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1. 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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2. 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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4. 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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5. Author Correction: The NCI Genomic Data Commons

Author

Heath, Allison P., Ferretti, Vincent, Agrawal, Stuti, An, Maksim, Angelakos, James C., Arya, Renuka, Bajari, Rosita, Baqar, Bilal, Barnowski, Justin H. B., Burt, Jeffrey, Catton, Ann, Chan, Brandon F., Chu, Fay, Cullion, Kim, Davidsen, Tanja, Do, Phuong-My, Dompierre, Christian, Ferguson, Martin L., Fitzsimons, Michael S., Ford, Michael, Fukuma, Miyuki, Gaheen, Sharon, Ganji, Gajanan L., Garcia, Tzintzuni I., George, Sameera S., Gerhard, Daniela S., Gerthoffert, Francois, Gomez, Fauzi, Han, Kang, Hernandez, Kyle M., Issac, Biju, Jackson, Richard, Jensen, Mark A., Joshi, Sid, Kadam, Ajinkya, Khurana, Aishmit, Kim, Kyle M. J., Kraft, Victoria E., Li, Shenglai, Lichtenberg, Tara M., Lodato, Janice, Lolla, Laxmi, Martinov, Plamen, Mazzone, Jeffrey A., Miller, Daniel P., Miller, Ian, Miller, Joshua S., Miyauchi, Koji, Murphy, Mark W., Nullet, Thomas, Ogwara, Rowland O., Ortuño, Francisco M., Pedrosa, Jesús, Pham, Phuong L., Popov, Maxim Y., Porter, James J., Powell, Raymond, Rademacher, Karl, Reid, Colin P., Rich, Samantha, Rogel, Bessie, Sahni, Himanso, Savage, Jeremiah H., Schmitt, Kyle A., Simmons, Trevar J., Sislow, Joseph, Spring, Jonathan, Stein, Lincoln, Sullivan, Sean, Tang, Yajing, Thiagarajan, Mathangi, Troyer, Heather D., Wang, Chang, Wang, Zhining, West, Bedford L., Wilmer, Alex, Wilson, Shane, Wu, Kaman, Wysocki, William P., Xiang, Linda, Yamada, Joseph T., Yang, Liming, Yu, Christine, Yung, Christina K., Zenklusen, Jean Claude, Zhang, Junjun, Zhang, Zhenyu, Zhao, Yuanheng, Zubair, Ariz, Staudt, Louis M., and Grossman, Robert L.

Published
2021
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6. 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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7. 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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8. 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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9. The NCI Genomic Data Commons

Author

Heath, Allison P., primary, Ferretti, Vincent, additional, Agrawal, Stuti, additional, An, Maksim, additional, Angelakos, James C., additional, Arya, Renuka, additional, Bajari, Rosita, additional, Baqar, Bilal, additional, Barnowski, Justin H. B., additional, Burt, Jeffrey, additional, Catton, Ann, additional, Chan, Brandon F., additional, Chu, Fay, additional, Cullion, Kim, additional, Davidsen, Tanja, additional, Do, Phuong-My, additional, Dompierre, Christian, additional, Ferguson, Martin L., additional, Fitzsimons, Michael S., additional, Ford, Michael, additional, Fukuma, Miyuki, additional, Gaheen, Sharon, additional, Ganji, Gajanan L., additional, Garcia, Tzintzuni I., additional, George, Sameera S., additional, Gerhard, Daniela S., additional, Gerthoffert, Francois, additional, Gomez, Fauzi, additional, Han, Kang, additional, Hernandez, Kyle M., additional, Issac, Biju, additional, Jackson, Richard, additional, Jensen, Mark A., additional, Joshi, Sid, additional, Kadam, Ajinkya, additional, Khurana, Aishmit, additional, Kim, Kyle M. J., additional, Kraft, Victoria E., additional, Li, Shenglai, additional, Lichtenberg, Tara M., additional, Lodato, Janice, additional, Lolla, Laxmi, additional, Martinov, Plamen, additional, Mazzone, Jeffrey A., additional, Miller, Daniel P., additional, Miller, Ian, additional, Miller, Joshua S., additional, Miyauchi, Koji, additional, Murphy, Mark W., additional, Nullet, Thomas, additional, Ogwara, Rowland O., additional, Ortuño, Francisco M., additional, Pedrosa, Jesús, additional, Pham, Phuong L., additional, Popov, Maxim Y., additional, Porter, James J., additional, Powell, Raymond, additional, Rademacher, Karl, additional, Reid, Colin P., additional, Rich, Samantha, additional, Rogel, Bessie, additional, Sahni, Himanso, additional, Savage, Jeremiah H., additional, Schmitt, Kyle A., additional, Simmons, Trevar J., additional, Sislow, Joseph, additional, Spring, Jonathan, additional, Stein, Lincoln, additional, Sullivan, Sean, additional, Tang, Yajing, additional, Thiagarajan, Mathangi, additional, Troyer, Heather D., additional, Wang, Chang, additional, Wang, Zhining, additional, West, Bedford L., additional, Wilmer, Alex, additional, Wilson, Shane, additional, Wu, Kaman, additional, Wysocki, William P., additional, Xiang, Linda, additional, Yamada, Joseph T., additional, Yang, Liming, additional, Yu, Christine, additional, Yung, Christina K., additional, Zenklusen, Jean Claude, additional, Zhang, Junjun, additional, Zhang, Zhenyu, additional, Zhao, Yuanheng, additional, Zubair, Ariz, additional, Staudt, Louis M., additional, and Grossman, Robert L., additional

Published
2021
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10. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Author

Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, and Schmidts, Miriam

Published
2018
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11. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Author

Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-Menchen, Tabea, Aprea, Isabella, Frank, Diana, Pennekamp, Petra, Dworniczak, Bernd, Wallmeier, Julia, Raidt, Johanna, Nielsen, Kim G., Philipsen, Maria C., Santamaria, Francesca, Venditto, Laura, Amirav, Israel, Mussaffi, Huda, Prenzel, Freerk, Wu, Kaman, Bakey, Zeineb, Schmidts, Miriam, Loges, Niki T., and Omran, Heymut

Published
2018
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12. Bortezomib-based induction followed by stem cell transplantation in light chain amyloidosis: results of the multicenter HOVON 104 trial

Author

Minnema, Monique C., Nasserinejad, Kazem, Hazenberg, Bouke, Hegenbart, Ute, Vlummens, Philip, Ypma, P.F., Wu, Kaman, Croockewit, S., Sonneveld, P., Schoenland, Stefan, Minnema, Monique C., Nasserinejad, Kazem, Hazenberg, Bouke, Hegenbart, Ute, Vlummens, Philip, Ypma, P.F., Wu, Kaman, Croockewit, S., Sonneveld, P., and Schoenland, Stefan

Abstract

Contains fulltext : 210134.pdf (publisher's version ) (Open Access)

Published
2019

13. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, cranio facial and genital features (COFG syndrome)

Author

Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Rad, Abolfazl; Altunoğlu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Çağlayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yeşil, Gözde; Sahebzamani, Afsaneh; Ercan-Şençiçek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G.; Hauser, Natalie; Günel, Murat; Schmidts, Miriam, School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Rad, Abolfazl; Altunoğlu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Çağlayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yeşil, Gözde; Sahebzamani, Afsaneh; Ercan-Şençiçek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G.; Hauser, Natalie; Günel, Murat; Schmidts, Miriam, School of Medicine, and Department of Medical Genetics

Abstract

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. Objective: a homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. Results: we identified four homozygous MAB21L1 loss of function variants (p.Glu281fs∗20, p.Arg287Glufs∗14 p.Tyr280∗ and p.Ser93Serfs∗48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. Conclusion: this report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis., Simons Foundation for Autism Research; United States Department of Health & Human Services National Institutes of Health (NIH); Rady Children’s Institute for Genomic Medicine; Radboudumc; RIMLS Nijmegen (Hypatia tenure track fellowship); the ’Deutsche Forschungsgemeinschaft’ DFG; European Research Council (ERC StG TREATC ilia, grant No. 716344); European Union (European Union); H2020; ERAnet consortium CRANIRARE2; Yale Center for Mendelian Disorders; Gregory M. Kiez and Mehmet Kutman Foundation

Published
2019

15. Cover Image, Volume 40, Issue 3

Author

Rehman, Atteeq U., primary, Najafi, Maryam, additional, Kambouris, Marios, additional, Al-Gazali, Lihadh, additional, Makrythanasis, Periklis, additional, Rad, Abolfazl, additional, Maroofian, Reza, additional, Rajab, Anna, additional, Stark, Zornitza, additional, Hunter, Jill V., additional, Bakey, Zeineb, additional, Tokita, Mari J., additional, He, Weimin, additional, Vetrini, Francesco, additional, Petersen, Andrea, additional, Santoni, Federico A., additional, Hamamy, Hanan, additional, Wu, Kaman, additional, Al-Jasmi, Fatma, additional, Helmstädter, Martin, additional, Arnold, Sebastian J., additional, Xia, Fan, additional, Richmond, Christopher, additional, Liu, Pengfei, additional, Karimiani, Ehsan Ghayoor, additional, Karami Madani, GholamReza, additional, Lunke, Sebastian, additional, El-Shanti, Hatem, additional, Eng, Christine M., additional, Antonarakis, Stylianos E., additional, Hertecant, Jozef, additional, Walkiewicz, Magdalena, additional, Yang, Yaping, additional, and Schmidts, Miriam, additional

Published
2019
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16. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Author

Rehman, Atteeq U., primary, Najafi, Maryam, additional, Kambouris, Marios, additional, Gazali, Lihadh Al, additional, Makrythanasis, Periklis, additional, Rad, Abolfazl, additional, Maroofian, Reza, additional, Rajab, Anna, additional, Stark, Zornitza, additional, Hunter, Jill V., additional, Bakey, Zeineb, additional, Tokita, Mari J., additional, He, Weimin, additional, Vetrini, Francesco, additional, Petersen, Andrea, additional, Santoni, Federico A., additional, Hamamy, Hanan, additional, Wu, Kaman, additional, Jasmi, Fatma Al, additional, Helmstädter, Martin, additional, Arnold, Sebastian J., additional, Xia, Fan, additional, Richmond, Christopher, additional, Liu, Pengfei, additional, Karimiani, Ehsan Ghayoor, additional, Madani, GholamReza Karami, additional, Lunke, Sebastian, additional, El‐Shanti, Hatem, additional, Eng, Christine M., additional, Antonarakis, Stylianos E., additional, Hertecant, Jozef, additional, Walkiewicz, Magdalena, additional, Yang, Yaping, additional, and Schmidts, Miriam, additional

Published
2018
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17. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctivecerebellar,ocular, craniofacial andgenital features (COFG syndrome)

Author

Rad, Abolfazl, primary, Altunoglu, Umut, additional, Miller, Rebecca, additional, Maroofian, Reza, additional, James, Kiely N, additional, Çağlayan, Ahmet Okay, additional, Najafi, Maryam, additional, Stanley, Valentina, additional, Boustany, Rose-Mary, additional, Yeşil, Gözde, additional, Sahebzamani, Afsaneh, additional, Ercan-Sencicek, Gülhan, additional, Saeidi, Kolsoum, additional, Wu, Kaman, additional, Bauer, Peter, additional, Bakey, Zeineb, additional, Gleeson, Joseph G, additional, Hauser, Natalie, additional, Gunel, Murat, additional, Kayserili, Hulya, additional, and Schmidts, Miriam, additional

Published
2018
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18. Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

Author

Höben, Inga M., primary, Hjeij, Rim, additional, Olbrich, Heike, additional, Dougherty, Gerard W., additional, Menchen, Tabea, additional, Aprea, Isabella, additional, Frank, Diana, additional, Pennekamp, Petra, additional, Dworniczak, Bernd, additional, Wallmeier, Julia, additional, Raidt, Johanna, additional, Nielsen, Kim Gjerum, additional, Philipsen, Maria C., additional, Santamaria, Francesca, additional, Venditto, Laura, additional, Amirav, Israel, additional, Prenzel, Freerk, additional, Wu, Kaman, additional, Schmidts, Miriam, additional, Loges, Niki T., additional, and Omran, Heymut, additional

Published
2017
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19. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Author

Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N., Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G., Hauser, Natalie, Gunel, Murat, and Kayserili, Hulya

Abstract

Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. Objective A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. Results We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. Conclusion T his report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis. [ABSTRACT FROM AUTHOR]

Published
2019
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20. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Author

Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, and Helmstädter, Martin

Abstract

Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome (WES) and whole genome sequencing (WGS) in four independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter, and thinning of the corpus callosum, we identified four previously unreported homozygous truncating PPP1R21 alleles: c.347delT p.(Ile116Lysfs*25), c.2170_2171insGGTA p.(Ile724Argfs*8), c.1607dupT p.(Leu536Phefs*7), c.2063delA p.(Lys688Serfs*26) and found that PPP1R21 was absent in fibroblasts of an affected individual, supporting the allele's loss of function effect. PPP1R21 function had not been studied except that a large scale affinity proteomics approach suggested an interaction with PIBF1 defective in Joubert syndrome. Our co‐immunoprecipitation studies did not confirm this but in contrast defined the localization of PPP1R21 to the early endosome. Consistent with the subcellular expression pattern and the clinical phenotype exhibiting features of storage diseases, we found patient fibroblasts exhibited a delay in clearance of transferrin‐488 while uptake was normal. In summary, we delineate a novel neurodevelopmental syndrome caused by biallelic PPP1R21 loss of function variants, and suggest a role of PPP1R21 within the endosomal sorting process or endosome maturation pathway. We describe PPP1R21 loss of function in 4 independent families with syndromal neurodevelopmental delay by exome and genome sequencing. Immunoflorescence analysis reveals wildtype PPP1R21 localises to the early endosome and PPP1R21 loss of function in patient fibroblasts results in disturbances of the endosomal sorting process or endosome maturation pathway. [ABSTRACT FROM AUTHOR]

Published
2019
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21. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Author

Peter O. Bauer, Ahmet Okay Caglayan, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Valentina Stanley, Joseph G. Gleeson, Maryam Najafi, Abolfazl Rad, Reza Maroofian, Kiely N. James, Hülya Kayserili, Rose-Mary Boustany, Zeineb Bakey, Murat Gunel, Natalie S. Hauser, Gozde Yesil, Rebecca Miller, Afsaneh Sahebzamani, Miriam Schmidts, Kaman Wu, Umut Altunoglu, YEŞİL, Gözde, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Rad, Abolfazl, Altunoğlu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N., Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Şençiçek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G., Hauser, Natalie, Günel, Murat, Schmidts, Miriam, School of Medicine, and Department of Medical Genetics

Subjects
0301 basic medicine, Male, Models, Molecular, Microcephaly, Pathology, Protein Conformation, 030105 genetics & heredity, Consanguinity, Neurodevelopmental disorder, Loss of Function Mutation, Child, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Developmental Defects, Homozygote, Brain, Syndrome, Disease gene identification, Magnetic Resonance Imaging, Pedigree, Phenotype, Agenesis, Cerebello-Oculo-Facio-genital (COFG) syndrome, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Ataxia, corneal dystrophy, Pontocerebellar hypoplasia, Polymorphism, Single Nucleotide, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Rad A., Altunoglu U., Miller R., Maroofian R., James K. N. , Caglayan A. O. , Najafi M., Stanley V., Boustany R., YEŞİL G., et al., -MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)-, JOURNAL OF MEDICAL GENETICS, cilt.56, ss.332-339, 2019, Genetics, medicine, scrotal/labial aplasia, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Association Studies, MAB21L1, Homeodomain Proteins, Medicine, Genetics and heredity, business.industry, pontocerebellar hypoplasia, Facies, Infant, medicine.disease, Corneal dystrophy, Scrotal/labial aplasia, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental Disorders, business
Abstract

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. Objective: a homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. Results: we identified four homozygous MAB21L1 loss of function variants (p.Glu281fs∗20, p.Arg287Glufs∗14 p.Tyr280∗ and p.Ser93Serfs∗48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. Conclusion: this report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis., Simons Foundation for Autism Research; United States Department of Health & Human Services National Institutes of Health (NIH); Rady Children’s Institute for Genomic Medicine; Radboudumc; RIMLS Nijmegen (Hypatia tenure track fellowship); the ’Deutsche Forschungsgemeinschaft’ DFG; European Research Council (ERC StG TREATC ilia, grant No. 716344); European Union (European Union); H2020; ERAnet consortium CRANIRARE2; Yale Center for Mendelian Disorders; Gregory M. Kiez and Mehmet Kutman Foundation

Published
2019

22. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Author

Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, and Pazour GJ

Abstract

Motile and non-motile cilia are critical to mammalian development and health. Assembly of these organelles depends on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). A series of human and mouse IFT74 variants were studied to understand the function of this IFT subunit. Humans missing exon 2, which codes for the first 40 residues, presented an unusual combination of ciliary chondrodysplasia and mucociliary clearance disorders while individuals carrying biallelic splice site variants developed a lethal skeletal chondrodysplasia. In mice, variants thought to remove all Ift74 function, completely block ciliary assembly and result in midgestational lethality. A mouse allele that removes the first 40 amino acids, analogous to the human exon 2 deletion, results in a motile cilia phenotype with mild skeletal abnormalities. In vitro studies suggest that the first 40 amino acids of IFT74 are dispensable for binding of other IFT subunits but are important for tubulin binding. Higher demands on tubulin transport in motile cilia compared to primary cilia could account for the motile cilia phenotype observed in human and mice.

Published
2023
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23. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome).

Author

Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, and Schmidts M

Subjects
Brain abnormalities, Brain diagnostic imaging, Child, Child, Preschool, Consanguinity, Facies, Female, Genetic Association Studies, Genetic Predisposition to Disease, Homeodomain Proteins chemistry, Homozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Models, Molecular, Pedigree, Polymorphism, Single Nucleotide, Protein Conformation, Syndrome, Exome Sequencing, Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Homeodomain Proteins genetics, Loss of Function Mutation, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics, Phenotype
Abstract

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs., Objective: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families., Results: We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly., Conclusion: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.)

Published
2019
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