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2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, and Wagner, Matias

Published
2024
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3. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

Author

Krenn, Martin, Wagner, Matias, Zulehner, Gudrun, Weng, Rosa, Jäger, Fiona, Keritam, Omar, Sener, Merve, Brücke, Christof, Milenkovic, Ivan, Langer, Agnes, Buchinger, Dominic, Habersam, Richard, Mayerhanser, Katharina, Brugger, Melanie, Brunet, Theresa, Jacob, Maureen, Graf, Elisabeth, Berutti, Riccardo, Cetin, Hakan, Hoefele, Julia, Winkelmann, Juliane, Zimprich, Fritz, and Rath, Jakob

Published
2024
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4. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Author

Holtz, Alexander, VanCoillie, Rachel, Vansickle, Elizabeth, Carere, Deanna, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria, Si, Yue, Wentzensen, Ingrid, Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Aldinger, Kimberly, Dobyns, William, Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten, OHeir, Emily, Moody, Shade, Kim, Katherine, Burton, Barbara, Yoon, Grace, Campo, Miguel, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan, Gordon, Patricia, Prokop, Jeremy, Karaa, Amel, Bupp, Caleb, Raby, Benjamin, Sherr, Elliott, and Argilli, Emanuela

Subjects
Hedgehog signaling, MYH10, Neurodevelopmental disorder, Nonmuscle myosin, Primary cilia, Actins, Cilia, Hedgehog Proteins, Humans, Myosin Heavy Chains, Neurodevelopmental Disorders, Nonmuscle Myosin Type IIB
Abstract

PURPOSE: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recognizable disorder has been associated with MYH10. We sought to define the clinical characteristics and molecular mechanism of a novel autosomal dominant disorder related to MYH10. METHODS: An international collaboration identified the patient cohort. CAS9-mediated knockout cell models were used to explore the mechanism of disease pathogenesis. RESULTS: We identified a cohort of 16 individuals with heterozygous MYH10 variants presenting with a broad spectrum of neurodevelopmental disorders and variable congenital anomalies that affect most organ systems and were recapitulated in animal models of altered MYH10 activity. Variants were typically de novo missense changes with clustering observed in the motor domain. MYH10 knockout cells showed defects in primary ciliogenesis and reduced ciliary length with impaired Hedgehog signaling. MYH10 variant overexpression produced a dominant-negative effect on ciliary length. CONCLUSION: These data presented a novel genetic cause of isolated and syndromic neurodevelopmental disorders related to heterozygous variants in the MYH10 gene with implications for disrupted primary cilia length control and altered Hedgehog signaling in disease pathogenesis.

Published
2022

6. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz, Schmaderer, Christoph, Rogg, Manuel, Schell, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian J., Ozaltin, Fatih, Schmidts, Miriam, and Hoefele, Julia

Published
2024
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7. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Author

Weng, Patricia, Majmundar, Amar, Khan, Kamal, Lim, Tze, Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina, Aggarwal, Vimla, Bier, Louise, Heinzen, Erin, Onuchic-Whitford, Ana, Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas, Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo, Altmüller, Janine, Benz, Marcus, Yano, Shoji, Mikati, Mohamad, Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa, Martinez-Agosto, Julian, Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, Parboosingh, Jillian, Innes, A, Bierzynska, Agnieszka, Koziell, Ania, Muorah, Mordi, Saleem, Moin, Hoefele, Julia, Riedhammer, Korbinian, Gharavi, Ali, Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor, ODonnell-Luria, Anne, Rehm, Heidi, Mane, Shrikant, DAgati, Vivette, Pollak, Martin, Ghiggeri, Gian, Lifton, Richard, Goldstein, David, Davis, Erica, Hildebrandt, Friedhelm, and Sanna-Cherchi, Simone

Subjects
FSGS, SRNS, TRIM8, epilepsy, genomics, monogenic, nuclear body, Adult, Animals, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Developmental Disabilities, Epilepsy, Female, Glomerulosclerosis, Focal Segmental, Humans, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Proteins, Phenotype, Podocytes, Exome Sequencing
Abstract

Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin ligase tripartite motif containing 8. To establish whether TRIM8 variants represent a cause of FSGS, we aggregated exome/genome-sequencing data for 2,501 pediatric FSGS/SRNS-affected individuals and 48,556 control subjects, detecting eight heterozygous TRIM8 truncating variants in affected subjects but none in control subjects (p = 3.28 × 10-11). In all six cases with available parental DNA, we demonstrated de novo inheritance (p = 2.21 × 10-15). Reverse phenotyping revealed neurodevelopmental disease in all eight families. We next analyzed ES from 9,067 individuals with epilepsy, yielding three additional families with truncating TRIM8 variants. Clinical review revealed FSGS in all. All TRIM8 variants cause protein truncation clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Wild-type TRIM8 overexpressed in immortalized human podocytes and neuronal cells localized to nuclear bodies, while constructs harboring patient-specific variants mislocalized diffusely to the nucleoplasm. Co-localization studies demonstrated that Gemini and Cajal bodies frequently abut a TRIM8 nuclear body. Truncating TRIM8 DNVs cause a neuro-renal syndrome via aberrant TRIM8 localization, implicating nuclear bodies in FSGS and developmental brain disease.

Published
2021

8. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024
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9. Correction: The 2019 and 2021 International workshops on Alport syndrome

Author

Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S., Hoefele, Julia, Flinter, Frances, Gale, Daniel P., Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H., Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B., Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A. Neil, Baldassarri, Margherita, Pinto, Anna Maria, and Renieri, Alessandra

Published
2024
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10. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Author

Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, and Stuurman, KE

Subjects
DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network, Cancer, Rare Diseases, Human Genome, Pediatric Research Initiative, Genetics, Biotechnology, 2.1 Biological and endogenous factors
Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

Published
2020

12. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Author

Antczak, P., Birtel, J., Bergmann, C., Cetiner, M., Dahmer-Heath, M., Drube, J., Gerß, J., Haffner, D., Illig, T., Kamp-Becker, I., Klopp, N., Kollmann, S., König, J., Konrad, M., Liebau, M.C., Nittel, C., Okorn, C., Omran, H., Pape, L., Pennekamp, P., Schäfer, F., Schermer, B., Storf, H., Vasseur, J., Weber, S., Wohlgemuth, K., Ziegler, W., Gimpel, C., Göbel, J., Schlevogt, B., König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurélia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stéphane, Schanstra, Joost. P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Tönshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra, and Konrad, Martin

Published
2022
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13. Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Author

Baiko, Sergey, Serna Higuita, Lina Maria, Schaefer, Franz, Trautmann, Agnes, Tabatabaeifar, Mansoureh, Gheissari, Alaleh, Hooman, Nakysa, Benetti, Elisa, Emma, Francesco, Nigmatullina, Nazym, Lipska-Ziętkiewicz, Beata S., Bałasz-Chmielewska, Irena, Tkaczyk, Marcin, Stańczyk, Małgorzata, Borzecka, Halina, Tsygin, Alexey N., Prikhodina, Larisa, Bogdanovic, Radovan, Anarat, Ali, Ozaltin, Fatih, Mir, Sevgi, Fomina, Svitlana, Klopstock, Thomas, Prokisch, Holger, Kornblum, Cornelia, Xu, Hong, Shen, Qian, Rao, Jia, Liu, Cui-Hua, Sun, Shu-Zhen, Deng, Fang, Dong, Yang, Wang, Xiao-Wen, Luan, Jiang-Wei, Drovandi, Stefania, Gulhan, Bora, Boyer, Olivia, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Ng, Kar-Hui, Aurelle, Manon, Schreuder, Michiel F., Jankowski, Maciej, Mao, Jianhua, Feng, Chunyue, Liu, Cuihua, Sun, Shuzhen, Wang, Xiaowen, Clavé, Stéphanie, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Benz, Marcus R., Talebi, Saeed, and Ariceta, Gema

Published
2022
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14. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Author

Baiko, Sergey, Serna Higuita, Lina Maria, Schaefer, Franz, Trautmann, Agnes, Tabatabaeifar, Mansoureh, Gheissari, Alaleh, Hooman, Nakysa, Benetti, Elisa, Emma, Francesco, Nigmatullina, Nazym, Lipska-Ziętkiewicz, Beata S., Bałasz-Chmielewska, Irena, Tkaczyk, Marcin, Stańczyk, Małgorzata, Borzecka, Halina, Tsygin, Alexey N., Prikhodina, Larisa, Bogdanovic, Radovan, Anarat, Ali, Ozaltin, Fatih, Mir, Sevgi, Fomina, Svitlana, Klopstock, Thomas, Prokisch, Holger, Kornblum, Cornelia, Xu, Hong, Shen, Qian, Rao, Jia, Liu, Cui-Hua, Sun, Shu-Zhen, Deng, Fang, Dong, Yang, Wang, Xiao-Wen, Luan, Jiang-Wei, Drovandi, Stefania, Gulhan, Bora, Boyer, Olivia, Ziętkiewicz, Szymon, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Ng, Kar-Hui, Aurelle, Manon, Schijvens, Anne M., Jankowski, Maciej, Mao, Jianhua, Feng, Chunyue, Rousset-Rouviere, Caroline, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Benz, Marcus R., Talebi, Saeed, and Ariceta, Gema

Published
2022
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15. The 2019 and 2021 International Workshops on Alport Syndrome

Author

Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S., Hoefele, Julia, Flinter, Frances, Gale, Daniel P., Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H., Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B., Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A. Neil, Baldassarri, Margherita, Pinto, Anna Maria, and Renieri, Alessandra

Published
2022
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16. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.

Published
2022
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17. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Author

Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko

Published
2021
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18. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021
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20. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024

21. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021
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22. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

Author

Jacob, Maureen, Brugger, Melanie, Andres, Stephanie, Wagner, Matias, Graf, Elisabeth, Berutti, Riccardo, Tilch, Erik, Pavlov, Martin, Mayerhanser, Katharina, Hoefele, Julia, Meitinger, Thomas, Winkelmann, Juliane, and Brunet, Theresa

Subjects
NUCLEOTIDE sequencing, SINGLE nucleotide polymorphisms, FAMILY counseling, DNA, FRAMESHIFT mutation
Abstract

In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. We report the case of a female patient with profound NDD who died 30 years ago at the age of 3 years and for whom genome sequencing (GS) now identified a single-exon deletion in TBCK previously missed by ExomeDepth, the copy number variation (CNV) detection algorithm in ES. Deoxyribonucleic acid (DNA) was extracted from frozen muscle tissue of the index patient and the parents' blood. Genome data were analyzed for structural variants and single nucleotide variants (SUVs)/indels as part of the Bavarian Genomes consortium project. Biallelic variants in TBCK , which are linked to the autosomal recessive disorder TBCK syndrome, were detected in the affected individual: a novel frameshift variant and a deletion of exon 23, previously established as common but underrecognized pathogenic variant in individuals with TBCK syndrome. While in the foregoing ES analysis, calling algorithms for (SNVs)/indels were able to identify the frameshift variant, ExomeDepth failed to call the intragenic deletion. Our case illustrates the added value of GS for the detection of single-exon deletions for which calling from ES data remains challenging and confirms that the deletion of exon 23 in TBCK may be underdiagnosed in patients with NDDs. Furthermore, it shows the importance of "molecular or genetic autopsy" allowing genetic risk counseling for family members as well as the end of a diagnostic odyssey of 30 years. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Author

Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, and Jamra, Rami Abou

Published
2021
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28. Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?

Author

Riedhammer, Korbinian M., Simmendinger, Hannes, Tasic, Velibor, Putnik, Jovana, Abazi‐Emini, Nora, Stajic, Natasa, Berutti, Riccardo, Weidenbusch, Marc, Patzer, Ludwig, Lungu, Adrian, Milosevski‐Lomic, Gordana, Günthner, Roman, Braunisch, Matthias C., Ćomić, Jasmina, and Hoefele, Julia

Subjects
GENETIC variation, CHRONIC kidney failure, MEDICAL genetics, HEMATURIA, PROTEINURIA
Abstract

Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end‐stage kidney disease (ESKD). Monoallelic disease‐causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and biallelic variants with autosomal recessive AS (ARAS). The aim of this study was to analyze clinical and genetic data regarding a possible genotype–phenotype correlation in individuals with disease‐causing variants in COL4A3/COL4A4. Eighty‐nine individuals carrying at least one COL4A3/COL4A4 variant classified as (likely) pathogenic according to the American College of Medical Genetics guidelines and current amendments were recruited. Clinical data concerning the prevalence and age of first reported manifestation of MH, proteinuria, ESKD, and extrarenal manifestations were collected. Individuals with monoallelic non‐truncating variants reported a significantly higher prevalence and earlier diagnosis of MH and proteinuria than individuals with monoallelic truncating variants. Individuals with biallelic variants were more severely affected than those with monoallelic variants. Those with biallelic truncating variants were more severely affected than those with compound heterozygous non‐truncating/truncating variants or individuals with biallelic non‐truncating variants. In this study an association of heterozygous non‐truncating COL4A3/COL4A4 variants with a more severe phenotype in comparison to truncating variants could be shown indicating a potential dominant‐negative effect as an explanation for this observation. The results for individuals with ARAS support the, still scarce, data in the literature. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

Author

Krenn, Martin, primary, Wagner, Matias, additional, Zulehner, Gudrun, additional, Weng, Rosa, additional, Jäger, Fiona, additional, Keritam, Omar, additional, Sener, Merve, additional, Brücke, Christof, additional, Milenkovic, Ivan, additional, Langer, Agnes, additional, Buchinger, Dominic, additional, Habersam, Richard, additional, Mayerhanser, Katharina, additional, Brugger, Melanie, additional, Brunet, Theresa, additional, Jacob, Maureen, additional, Graf, Elisabeth, additional, Berutti, Riccardo, additional, Cetin, Hakan, additional, Hoefele, Julia, additional, Winkelmann, Juliane, additional, Zimprich, Fritz, additional, and Rath, Jakob, additional

Published
2023
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30. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Author

Riedhammer, Korbinian M., primary, Nguyen, Thanh-Minh T., additional, Koşukcu, Can, additional, Calzada-Wack, Julia, additional, Li, Yong, additional, Batzir, Nurit Assia, additional, Saygılı, Seha, additional, Wimmers, Vera, additional, Kim, Gwang-Jin, additional, Chrysanthou, Marialena, additional, Bakey, Zeineb, additional, Sofrin-Drucker, Efrat, additional, Kraiger, Markus, additional, Sanz-Moreno, Adrián, additional, Amarie, Oana V., additional, Rathkolb, Birgit, additional, Klein-Rodewald, Tanja, additional, Garrett, Lillian, additional, Hölter, Sabine M., additional, Seisenberger, Claudia, additional, Haug, Stefan, additional, Schlosser, Pascal, additional, Marschall, Susan, additional, Wurst, Wolfgang, additional, Fuchs, Helmut, additional, Gailus-Durner, Valerie, additional, Wuttke, Matthias, additional, Hrabe de Angelis, Martin, additional, Ćomić, Jasmina, additional, Doğan, Özlem Akgün, additional, Özlük, Yasemin, additional, Taşdemir, Mehmet, additional, Ağbaş, Ayşe, additional, Canpolat, Nur, additional, Orenstein, Naama, additional, Çalışkan, Salim, additional, Weber, Ruthild G., additional, Bergmann, Carsten, additional, Jeanpierre, Cecile, additional, Saunier, Sophie, additional, Lim, Tze Y., additional, Hildebrandt, Friedhelm, additional, Alhaddad, Bader, additional, Basel-Salmon, Lina, additional, Borovitz, Yael, additional, Wu, Kaman, additional, Antony, Dinu, additional, Matschkal, Julia, additional, Schaaf, Christian W., additional, Renders, Lutz, additional, Schmaderer, Christoph, additional, Rogg, Manuel, additional, Schell, Christoph, additional, Meitinger, Thomas, additional, Heemann, Uwe, additional, Köttgen, Anna, additional, Arnold, Sebastian J., additional, Ozaltin, Fatih, additional, Schmidts, Miriam, additional, and Hoefele, Julia, additional

Published
2023
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32. Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Author

Deltas, Constantinos, primary, Papagregoriou, Gregory, additional, Louka, Stavroula F., additional, Malatras, Apostolos, additional, Flinter, Frances, additional, Gale, Daniel P., additional, Gear, Susie, additional, Gross, Oliver, additional, Hoefele, Julia, additional, Lennon, Rachel, additional, Miner, Jeffrey H., additional, Renieri, Alessandra, additional, Savige, Judy, additional, and Turner, A. Neil, additional

Published
2023
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33. Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1

Author

Eichinger, Anna, Ponsel, Sabine, Bergmann, Carsten, Günthner, Roman, Hoefele, Julia, Amann, Kerstin, and Lange-Sperandio, Bärbel

Subjects
Nephrotic syndrome -- Case studies -- Drug therapy -- Diagnosis, Pediatric diseases -- Case studies -- Drug therapy -- Diagnosis, Cyclosporins -- Dosage and administration, Genetic disorders -- Case studies -- Drug therapy -- Diagnosis, Health
Abstract

Background Congenital nephrotic syndrome (CNS) is primarily a monogenetic disease, with the majority of cases due to changes in five different genes: the nephrin (NPHS1), podocin (NPHS2), Wilms tumor 1 (WT1), laminin ß2 (LAMB2), and phospholipase C epsilon 1 (PLCE1, NPHS3) gene. Usually CNS is not responsive to immunosuppressive therapy, but treatment with ACE inhibitors, AT1 receptor blockade and/or indomethacin can reduce proteinuria. If the disease progresses to end-stage renal disease, kidney transplantation is the therapy of choice. Case-Diagnosis Here, we present the case of a 4-month-old girl with congenital nephrotic syndrome. Upon admission, the patient presented with life-threatening anasarca, hypoalbuminemia, proteinuria, and impaired growth. There was no evidence of an infectious or immunological etiology. The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. In addition to daily parenteral albumin infusions plus furosemide, a pharmacological antiproteinuric therapy was started to reduce protein excretion. Based on the genetic results, immunosuppressive therapy with prednisolone was initiated, but without response. However, following cyclosporine A treatment, the patient achieved complete remission and now has good renal function, growth, and development. Conclusions A profound search for the cause of CNS is necessary but has its limitations. The therapeutic strategy should be adapted when the etiology remains unclear., Author(s): Anna Eichinger [sup.1] , Sabine Ponsel [sup.1] , Carsten Bergmann [sup.2] , Roman Günthner [sup.3] [sup.4] , Julia Hoefele [sup.3] , Kerstin Amann [sup.5] , Bärbel Lange-Sperandio [sup.1] Author [...]

Published
2018
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35. Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis

Author

Büscher, Anja K., Celebi, Nora, Hoyer, Peter F., Klein, Hanns-Georg, Weber, Stefanie, and Hoefele, Julia

Subjects
Mutation -- Research, Phenotypes -- Analysis, Cytoskeleton -- Analysis, Chronic kidney failure -- Development and progression, Health
Abstract

Background In 2010, INF2 mutations were associated with autosomal-dominant focal segmental glomerulosclerosis (FSGS), clinically presenting with moderate proteinuria in adolescence. However, in the meantime, cases with more severe clinical courses have been described, including progression to end-stage renal disease (ESRD) during childhood. INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton. Methods We report a family with 14 affected individuals (autosomal-dominant mode of inheritance), most of whom presented with nephrotic-range proteinuria, hypertension, and progressive renal failure. Four members received a kidney transplant without disease recurrence. Two patients underwent renal biopsy with the result of minimal-change glomerulopathy and IgA nephropathy respectively. We performed mutational analysis of ACTN4, CD2AP, COQ6, INF2, LAMB2, NPHS1, NPHS2, PLCE1, TRPC6, and WT1 in the index patient by next-generation sequencing. Additionally, in 6 affected and 2 unaffected family members target diagnostics were performed. Results We identified a novel heterozygous mutation c.490G>C (p.(Ala164Pro) in exon 3 of the INF2 gene in the index patient and 6 additionally examined affected family members. In silico analysis predicted it as 'probably damaging'. Additionally, three patients and 2 unaffected relatives harbored a novel heterozygous variant in ACTN4 (c.1149C>G, p.(Ile383Met)) with uncertain pathogenicity. Conclusion Mutations in INF2 are associated with familial proteinuric diseases - irrespective of the presence of FSGS and in the case of rapid disease progression. Therefore, mutational analysis should be considered in patients with renal histology other than FSGS and severe renal phenotype., Author(s): Anja K. Büscher [sup.1] , Nora Celebi [sup.2] , Peter F. Hoyer [sup.1] , Hanns-Georg Klein [sup.3] , Stefanie Weber [sup.4] , Julia Hoefele [sup.5] Author Affiliations: (1) Pediatric [...]

Published
2018
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38. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Author

Bakey, Zeineb, primary, Cabrera, Oscar A., additional, Hoefele, Julia, additional, Antony, Dinu, additional, Wu, Kaman, additional, Stuck, Michael W., additional, Micha, Dimitra, additional, Eguether, Thibaut, additional, Smith, Abigail O., additional, van der Wel, Nicole N., additional, Wagner, Matias, additional, Strittmatter, Lara, additional, Beales, Philip L., additional, Jonassen, Julie A., additional, Thiffault, Isabelle, additional, Cadieux-Dion, Maxime, additional, Boyes, Laura, additional, Sharif, Saba, additional, Tüysüz, Beyhan, additional, Dunstheimer, Desiree, additional, Niessen, Hans W. M., additional, Devine, William, additional, Lo, Cecilia W., additional, Mitchison, Hannah M., additional, Schmidts, Miriam, additional, and Pazour, Gregory J., additional

Published
2023
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39. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

Author

Schönauer, Ria, primary, Jin, Wenjun, additional, Findeisen, Christin, additional, Valenzuela, Irene, additional, Devlin, Laura Alice, additional, Murrell, Jill, additional, Bedoukian, Emma C., additional, Pöschla, Linda, additional, Hantmann, Elena, additional, Riedhammer, Korbinian M., additional, Hoefele, Julia, additional, Platzer, Konrad, additional, Biemann, Ronald, additional, Campeau, Philipp M., additional, Münch, Johannes, additional, Heyne, Henrike, additional, Hoffmann, Anne, additional, Ghosh, Adhideb, additional, Sun, Wenfei, additional, Dong, Hua, additional, Noé, Falko, additional, Wolfrum, Christian, additional, Woods, Emily, additional, Parker, Michael J., additional, Neatu, Ruxandra, additional, Le Guyader, Gwenael, additional, Bruel, Ange-Line, additional, Perrin, Laurence, additional, Spiewak, Helena, additional, Missotte, Isabelle, additional, Fourgeaud, Melanie, additional, Michaud, Vincent, additional, Lacombe, Didier, additional, Paolucci, Sarah A., additional, Buchan, Jillian G., additional, Glissmeyer, Margaret, additional, Popp, Bernt, additional, Blüher, Matthias, additional, Sayer, John A., additional, and Halbritter, Jan, additional

Published
2023
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40. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Author

Patterson, Victoria, primary, Ullah, Farid, additional, Bryant, Laura, additional, Griffin, John N., additional, Sidhu, Alpa, additional, Saliganan, Sheila, additional, Blaile, Mackenzie, additional, Saenz, Margarita S., additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Grange, Dorothy K., additional, Hu, Xuyun, additional, Mireguli, Maimaiti, additional, Luo, Yanfei, additional, Shen, Yiping, additional, Mulhern, Maureen, additional, Zackai, Elaine, additional, Ritter, Alyssa, additional, Izumi, Kosaki, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Riedhammer, Korbinian M., additional, Seitz, Barbara, additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Mignot, Cyril, additional, Keren, Boris, additional, Cox, Helen, additional, Jarvis, Joanna, additional, Hempel, Maja, additional, Gibson, Cynthia Forster, additional, Tran Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Bruel, Ange-Line, additional, Sorlin, Arthur, additional, Mehta, Sarju, additional, Raymond, F. Lucy, additional, Gilmore, Kelly, additional, Powell, Bradford C., additional, Weck, Karen, additional, Li, Chumei, additional, Vulto-van Silfhout, Anneke T., additional, Giacomini, Thea, additional, Mancardi, Maria Margherita, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Zara, Federico, additional, Vora, Neeta L., additional, Davis, Erica E., additional, Burdine, Rebecca, additional, and Bhoj, Elizabeth, additional

Published
2023
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41. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, primary, Danyel, Magdalena, additional, Grundmann, Kathrin, additional, Brunet, Theresa, additional, Klinkhammer, Hannah, additional, Hsieh, Tzung-Chien, additional, Engels, Hartmut, additional, Peters, Sophia, additional, Knaus, Alexej, additional, Moosa, Shahida, additional, Averdunk, Luisa, additional, Boschann, Felix, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Mensah, Martin Atta, additional, Pantel, Jean Tori, additional, Holtgrewe, Manuel, additional, Boesch, Annemarie, additional, Weiss, Claudia, additional, Weinhold, Natalie, additional, Suter, Aude-Annick, additional, Stoltenburg, Corinna, additional, Neugebauer, Julia, additional, Kallinich, Tillmann, additional, Kaindl, Angela M., additional, Holzhauer, Susanne, additional, Buehrer, Christoph, additional, Bufler, Philip, additional, Kornak, Uwe, additional, Ott, Claus-Eric, additional, Schuelke, Markus, additional, Nguyen, Hoa Huu Phuc, additional, Hoffjan, Sabine, additional, Grasemann, Corinna, additional, Rothoeft, Tobias, additional, Brinkmann, Folke, additional, Matar, Nora, additional, Sivalingam, Sugirthan, additional, Perne, Claudia, additional, Mangold, Elisabeth, additional, Kreiss, Martina, additional, Cremer, Kirsten, additional, Betz, Regina C., additional, Bender, Tim, additional, Muecke, Martin, additional, Grigull, Lorenz, additional, Klockgether, Thomas, additional, Isabel, Spier, additional, Heimbach, Andre, additional, Tim, Bender, additional, Brand, Fabian, additional, Stieber, Christiane, additional, Morawiec, Alexandra Marzena, additional, Karakostas, Pantelis, additional, Schaefer, Valentin S., additional, Bernsen, Sarah, additional, Weydt, Patrick, additional, Castro-Gomez, Sergio, additional, Aziz, Ahmad, additional, Grobe-Einsler, Marcus, additional, Kimmich, Okka, additional, Kobeleva, Xenia, additional, oender, Demet, additional, Lesmann, Hellen, additional, Kumar, Sheetal, additional, Tacik, Pawel, additional, Lee-Kirsch, Min Ae, additional, Berner, Reinhard, additional, Schuetz, Catharina, additional, Koerholz, Julia, additional, Kretschmer, Tanita, additional, Di Donato, Nataliya, additional, Schroeck, Evelin, additional, Heinen, Andre, additional, Reuner, Ulrike, additional, Hansske, Amalia-Mihaela, additional, Kaiser, Frank J., additional, Manka, Eva, additional, Munteanu, Martin, additional, Kuechler, Alma, additional, Cordula, Kiewert, additional, Hirtz, Raphael, additional, Schlapakow, Elena, additional, Schlein, Christian, additional, Lisfeld, Jasmin, additional, Kubisch, Christian, additional, Herget, Theresia, additional, Hempel, Maja, additional, Weiler-Normann, Christina, additional, Ullrich, Kurt, additional, Schramm, Christoph, additional, Rudolph, Cornelia, additional, Rillig, Franziska, additional, Groffmann, Maximilian, additional, Muntau, Ania, additional, Tibelius, Alexandra, additional, Schwaibold, Eva M. C., additional, Schaaf, Christian P., additional, Zawada, Michal, additional, Kaufmann, Lilian, additional, Hinderhofer, Katrin, additional, Okun, Pamela M., additional, Kotzaeridou, Urania, additional, Hoffmann, Georg F., additional, Choukair, Daniela, additional, Bettendorf, Markus, additional, Spielmann, Malte, additional, Ripke, Annekatrin, additional, Pauly, Martje, additional, Muenchau, Alexander, additional, Lohmann, Katja, additional, Huening, Irina, additional, Hanker, Britta, additional, Baeumer, Tobias, additional, Herzog, Rebecca, additional, Hellenbroich, Yorck, additional, Westphal, Dominik S., additional, Strom, Tim, additional, Kovacs, Reka, additional, Riedhammer, Korbinian M., additional, Mayerhanser, Katharina, additional, Graf, Elisabeth, additional, Brugger, Melanie, additional, Hoefele, Julia, additional, Oexle, Konrad, additional, Mirza-Schreiber, Nazanin, additional, Berutti, Riccardo, additional, Schatz, Ulrich, additional, Krenn, Martin, additional, Makowski, Christine, additional, Weigand, Heike, additional, Schroeder, Sebastian, additional, Rohlfs, Meino, additional, Katharina, Vill, additional, Hauck, Fabian, additional, Borggraefe, Ingo, additional, Mueller-Felber, Wolfgang, additional, Kurth, Ingo, additional, Elbracht, Miriam, additional, Knopp, Cordula, additional, Begemann, Matthias, additional, Kraft, Florian, additional, Lemke, Johannes, additional, Hentschel, Julia, additional, Platzer, Konrad, additional, Strehlow, Vincent, additional, Abou Jamra, Rami, additional, Kehrer, Martin, additional, Demidov, German, additional, Beck-Woedl, Stefanie, additional, Graessner, Holm, additional, Sturm, Marc, additional, Zeltner, Lena, additional, Schoels, Ludger J., additional, Magg, Janine, additional, Bevot, Andrea, additional, Kehrer, Christiane, additional, Kaiser, Nadja, additional, Horn, Denise, additional, Grueters-Kieslich, Annette, additional, Klein, Christoph, additional, Mundlos, Stefan, additional, Noethen, Markus, additional, Riess, Olaf, additional, Meitinger, Thomas, additional, Krude, Heiko, additional, Krawitz, Peter M., additional, Haack, Tobias, additional, Ehmke, Nadja, additional, and Wagner, Matias, additional

Published
2023
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42. Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Riedhammer, Korbinian, primary, Nguyen, Thanh-Minh T, additional, Kosukcu, Can, additional, Calzada-Wack, Julia, additional, Li, Yong, additional, Saygili, Seha, additional, Wimmers, Vera, additional, Kim, Gwang-Jin, additional, Chrysanthou, Marialena, additional, Kraiger, Markus, additional, Adrian Sanz-Moreno, Adrian, additional, Amarie, Oana V, additional, Rathkolb, Birgit, additional, Klein-Rodewald, Tanja, additional, Garrett, Lillian, additional, Hoelter, Sabine M, additional, Seisenberger, Claudia, additional, Haug, Stefan, additional, Marschall, Susan, additional, Wurst, Wolfgang, additional, Fuchs, Helmut, additional, Gailus-Durner, Valerie, additional, Wuttke, Matthias, additional, Hrabe de Angelis, Martin, additional, Comic, Jasmina, additional, Doga, Ozlem Akgun, additional, Ozluk, Yasemin, additional, Tasdemir, Mehmet, additional, Agbas, Ayse, additional, Canpolat, Nur, additional, Salim Caliskan, Salim, additional, Weber, Ruthild, additional, Bergmann, Carsten, additional, Jeanpierre, Cecile, additional, Saunier, Sophie, additional, Lim, Tze Y., additional, Hildebrandt, Friedhelm, additional, Alhaddad, Bader, additional, Wu, Kaman, additional, Antony, Dinu, additional, Matschkal, Julia, additional, Schaaf, Christian, additional, Renders, Lutz, additional, Schmaderer, Christoph, additional, Meitinger, Thomas, additional, Heemann, Uwe, additional, Kottgen, Anna, additional, Arnold, Sebastian, additional, Ozaltin, Fatih, additional, Schmidts, Miriam, additional, and Hoefele, Julia, additional

Published
2023
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43. Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

Author

Riedhammer, Korbinian M., primary, Ćomić, Jasmina, additional, Tasic, Velibor, additional, Putnik, Jovana, additional, Abazi-Emini, Nora, additional, Paripovic, Aleksandra, additional, Stajic, Natasa, additional, Meitinger, Thomas, additional, Nushi-Stavileci, Valbona, additional, Berutti, Riccardo, additional, Braunisch, Matthias C., additional, and Hoefele, Julia, additional

Published
2023
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44. IFT74variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Author

Bakey, Zeineb, primary, Cabrera, Oscar A., additional, Hoefele, Julia, additional, Antony, Dinu, additional, Wu, Kaman, additional, Stuck, Michael W., additional, Micha, Dimitra, additional, Eguether, Thibaut, additional, Smith, Abigail O., additional, van der Wel, Nicole N., additional, Wagner, Matias, additional, Strittmatter, Lara, additional, Beales, Philip L., additional, Jonassen, Julie A., additional, Thiffault, Isabelle, additional, Cadieux-Dion, Maxime, additional, Boyes, Laura, additional, Sharif, Saba, additional, Tüysüz, Beyhan, additional, Dunstheimer, Desiree, additional, Niessen, Hans W.M., additional, Devine, William, additional, Lo, Cecilia W, additional, Mitchison, Hannah M., additional, Schmidts, Miriam, additional, and Pazour, Gregory J., additional

Published
2023
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46. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional

Published
2023
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47. Correction: The 2019 and 2021 International workshops on Alport syndrome

Author

Daga, Sergio, primary, Ding, Jie, additional, Deltas, Constantinos, additional, Savige, Judy, additional, Lipska-Ziętkiewicz, Beata S., additional, Hoefele, Julia, additional, Flinter, Frances, additional, Gale, Daniel P., additional, Aksenova, Marina, additional, Kai, Hirofumi, additional, Perin, Laura, additional, Barua, Moumita, additional, Torra, Roser, additional, Miner, Jeff H., additional, Massella, Laura, additional, Ljubanović, Danica Galešić, additional, Lennon, Rachel, additional, Weinstock, Andrè B., additional, Knebelmann, Bertrand, additional, Cerkauskaite, Agne, additional, Gear, Susie, additional, Gross, Oliver, additional, Turner, A. Neil, additional, Baldassarri, Margherita, additional, Pinto, Anna Maria, additional, and Renieri, Alessandra, additional

Published
2023
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48. Lifetime Risk of Autosomal Recessive Kidney Diseases Calculated from Genetic Databases

Author

Braunisch, Matthias C., primary, Großewinkelmann, Clara Maria, additional, Menke, Martin, additional, Hannane, Nora, additional, Berutti, Riccardo, additional, Ćomić, Jasmina, additional, Günthner, Roman, additional, Renders, Lutz, additional, Schmaderer, Christoph, additional, Heemann, Uwe, additional, Riedhammer, Korbinian M., additional, Wagner, Matias, additional, and Hoefele, Julia, additional

Published
2023
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49. Implication ofFOXD2dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V, Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Çalışkan, Salim, Weber, Ruthild, Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian, Renders, Lutz, Schmaderer, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian, Ozaltin, Fatih, Schmidts, Miriam, and Hoefele, Julia

Subjects
Article
Abstract

BackgroundCongenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like exome sequencing (ES). However, disease-causing variants in known disease-associated genes still only explain a proportion of cases. Aim of this study was to unravel the underlying molecular mechanism of syndromic CAKUT in two multiplex families with presumed autosomal recessive inheritance.Methods and ResultsES in the index individuals revealed two different rare homozygous variants inFOXD2,a transcription factor not previously implicated in CAKUT in humans: a frameshift in family 1 and a missense variant in family 2 with family segregation patterns consistent with autosomal-recessive inheritance. CRISPR/Cas9-derivedFoxd2knock-out (KO) mice presented with bilateral dilated renal pelvis accompanied by renal papilla atrophy while extrarenal features included mandibular, ophthalmologic, and behavioral anomalies, recapitulating the phenotype of humans withFOXD2dysfunction. To study the pathomechanism ofFOXD2-dysfunction-mediated developmental renal defects, in a complementary approach, we generated CRISPR/Cas9-mediated KO ofFoxd2in ureteric-bud-induced mouse metanephric mesenchyme cells. Transcriptomic analyses revealed enrichment of numerous differentially expressed genes important in renal/urogenital development, includingPax2andWnt4as well as gene expression changes indicating a cell identity shift towards a stromal cell identity. Histology ofFoxd2KO mouse kidneys confirmed increased fibrosis. Further, GWAS data (genome-wide association studies) suggests thatFOXD2could play a role for maintenance of podocyte integrity during adulthood.ConclusionsIn summary, our data implicate thatFOXD2dysfunction is a very rare cause of autosomal recessive syndromic CAKUT and suggest disturbances of the PAX2-WNT4 cell signaling axis contribute to this phenotype.

Published
2023
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