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2. Supplementary Tables 1-4 from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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3. Data from Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
- Author
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Couch, Fergus J., primary, Gaudet, Mia M., primary, Antoniou, Antonis C., primary, Ramus, Susan J., primary, Kuchenbaecker, Karoline B., primary, Soucy, Penny, primary, Beesley, Jonathan, primary, Chen, Xiaoqing, primary, Wang, Xianshu, primary, Kirchhoff, Tomas, primary, McGuffog, Lesley, primary, Barrowdale, Daniel, primary, Lee, Andrew, primary, Healey, Sue, primary, Sinilnikova, Olga M., primary, Andrulis, Irene L., primary, Ozcelik, Hilmi, primary, Mulligan, Anna Marie, primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Jensen, Uffe Birk, primary, Skytte, Anne-Bine, primary, Kruse, Torben A., primary, Caligo, Maria A., primary, von Wachenfeldt, Anna, primary, Barbany-Bustinza, Gisela, primary, Loman, Niklas, primary, Soller, Maria, primary, Ehrencrona, Hans, primary, Karlsson, Per, primary, Nathanson, Katherine L., primary, Rebbeck, Timothy R., primary, Domchek, Susan M., primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Złowocka, Elżbieta, primary, Huzarski, Tomasz, primary, Byrski, Tomasz, primary, Gronwald, Jacek, primary, Cybulski, Cezary, primary, Górski, Bohdan, primary, Osorio, Ana, primary, Durán, Mercedes, primary, Tejada, María Isabel, primary, Benitez, Javier, primary, Hamann, Ute, primary, Hogervorst, Frans B.L., primary, van Os, Theo A., primary, van Leeuwen, Flora E., primary, Meijers-Heijboer, Hanne E.J., primary, Wijnen, Juul, primary, Blok, Marinus J., primary, Kets, Marleen, primary, Hooning, Maartje J., primary, Oldenburg, Rogier A., primary, Ausems, Margreet G.E.M., primary, Peock, Susan, primary, Frost, Debra, primary, Ellis, Steve D., primary, Platte, Radka, primary, Fineberg, Elena, primary, Evans, D. Gareth, primary, Jacobs, Chris, primary, Eeles, Rosalind A., primary, Adlard, Julian, primary, Davidson, Rosemarie, primary, Eccles, Diana M., primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Brewer, Carole, primary, Douglas, Fiona, primary, Hodgson, Shirley V., primary, Morrison, Patrick J., primary, Walker, Lisa, primary, Porteous, Mary E., primary, Kennedy, M. John, primary, Side, Lucy E., primary, Bove, Betsy, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, Fassy-Colcombet, Marion, primary, Castera, Laurent, primary, Cornelis, François, primary, Mazoyer, Sylvie, primary, Léoné, Mélanie, primary, Boutry-Kryza, Nadia, primary, Bressac-de Paillerets, Brigitte, primary, Caron, Olivier, primary, Pujol, Pascal, primary, Coupier, Isabelle, primary, Delnatte, Capucine, primary, Akloul, Linda, primary, Lynch, Henry T., primary, Snyder, Carrie L., primary, Buys, Saundra S., primary, Daly, Mary B., primary, Terry, MaryBeth, primary, Chung, Wendy K., primary, John, Esther M., primary, Miron, Alexander, primary, Southey, Melissa C., primary, Hopper, John L., primary, Goldgar, David E., primary, Singer, Christian F., primary, Rappaport, Christine, primary, Tea, Muy-Kheng M., primary, Fink-Retter, Anneliese, primary, Hansen, Thomas V.O., primary, Nielsen, Finn C., primary, Arason, Aðalgeir, primary, Vijai, Joseph, primary, Shah, Sohela, primary, Sarrel, Kara, primary, Robson, Mark E., primary, Piedmonte, Marion, primary, Phillips, Kelly, primary, Basil, Jack, primary, Rubinstein, Wendy S., primary, Boggess, John, primary, Wakeley, Katie, primary, Ewart-Toland, Amanda, primary, Montagna, Marco, primary, Agata, Simona, primary, Imyanitov, Evgeny N., primary, Isaacs, Claudine, primary, Janavicius, Ramunas, primary, Lazaro, Conxi, primary, Blanco, Ignacio, primary, Feliubadalo, Lidia, primary, Brunet, Joan, primary, Gayther, Simon A., primary, Pharoah, Paul P.D., primary, Odunsi, Kunle O., primary, Karlan, Beth Y., primary, Walsh, Christine S., primary, Olah, Edith, primary, Teo, Soo Hwang, primary, Ganz, Patricia A., primary, Beattie, Mary S., primary, van Rensburg, Elizabeth J., primary, Dorfling, Cecelia M., primary, Diez, Orland, primary, Kwong, Ava, primary, Schmutzler, Rita K., primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Ditsch, Nina, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Niederacher, Dieter, primary, Preisler-Adams, Sabine, primary, Gadzicki, Dorothea, primary, Varon-Mateeva, Raymonda, primary, Deissler, Helmut, primary, Gehrig, Andrea, primary, Sutter, Christian, primary, Kast, Karin, primary, Fiebig, Britta, primary, Heinritz, Wolfram, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Tischkowitz, Marc D., primary, Spurdle, Amanda B., primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Lindor, Noralane M., primary, Fredericksen, Zachary, primary, Pankratz, V. Shane, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Bernard, Loris, primary, Viel, Alessandra, primary, Giannini, Giuseppe, primary, Varesco, Liliana, primary, Radice, Paolo, primary, Greene, Mark H., primary, Mai, Phuong L., primary, Easton, Douglas F., primary, Chenevix-Trench, Georgia, primary, Offit, Kenneth, primary, and Simard, Jacques, primary
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- 2023
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4. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
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Paul, Maimuna S., primary, Duncan, Anna R., additional, Genetti, Casie A., additional, Pan, Hongling, additional, Jackson, Adam, additional, Grant, Patricia E., additional, Shi, Jiahai, additional, Pinelli, Michele, additional, Brunetti-Pierri, Nicola, additional, Garza-Flores, Alexandra, additional, Shahani, Dave, additional, Saneto, Russell P., additional, Zampino, Giuseppe, additional, Leoni, Chiara, additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Blümlein Tobias B. Haack, Ulrike, additional, Heinritz, Wolfram, additional, Matzker, Eva, additional, Alhaddad, Bader, additional, Jamra, Rami Abou, additional, Bartolomaeus, Tobias, additional, AlHamdan, Saber, additional, Carapito, Raphael, additional, Isidor, Bertrand, additional, Bahram, Seiamak, additional, Ritter, Alyssa, additional, Izumi, Kosuke, additional, Shakked, Ben Pode, additional, Barel, Ortal, additional, Ben Zeev, Bruria, additional, Begtrup, Amber, additional, Carere, Deanna Alexis, additional, Mullegama, Sureni V., additional, Palculict, Timothy Blake, additional, Calame, Daniel G., additional, Schwan, Katharina, additional, Aycinena, Alicia R.P., additional, Traberg, Rasa, additional, Douzgou, Sofia, additional, Pirt, Harrison, additional, Ismayilova, Naila, additional, Banka, Siddharth, additional, Chao, Hsiao-Tuan, additional, and Agrawal, Pankaj B., additional
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- 2023
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5. FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
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Mitter, Diana, primary, Pringsheim, Milka, additional, Kaulisch, Marc, additional, Plümacher, Kim Sarah, additional, Schröder, Simone, additional, Warthemann, Rita, additional, Abou Jamra, Rami, additional, Baethmann, Martina, additional, Bast, Thomas, additional, Büttel, Hans-Martin, additional, Cohen, Julie S., additional, Conover, Elizabeth, additional, Courage, Carolina, additional, Eger, Angelika, additional, Fatemi, Ali, additional, Grebe, Theresa A., additional, Hauser, Natalie S., additional, Heinritz, Wolfram, additional, Helbig, Katherine L., additional, Heruth, Marion, additional, Huhle, Dagmar, additional, Höft, Karen, additional, Karch, Stephanie, additional, Kluger, Gerhard, additional, Korenke, G. Christoph, additional, Lemke, Johannes R., additional, Lutz, Richard E., additional, Patzer, Steffi, additional, Prehl, Isabelle, additional, Hoertnagel, Konstanze, additional, Ramsey, Keri, additional, Rating, Tina, additional, Rieß, Angelika, additional, Rohena, Luis, additional, Schimmel, Mareike, additional, Westman, Rachel, additional, Zech, Frank-Martin, additional, Zoll, Barbara, additional, Malzahn, Dörthe, additional, Zirn, Birgit, additional, and Brockmann, Knut, additional
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- 2018
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6. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
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Di Donato, Nataliya, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas, Dobyns, William B., Di Donato, Nataliya, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas, and Dobyns, William B.
- Abstract
Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1-four novel and two previously reported. Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly cohort and two were tested with exome sequencing. Retrospectively, facial features were compatible with the diagnosis but significantly milder than previously reported in four patients, and non-specific in one. The pattern of malformations of cortical development was highly similar in four of six patients with available MRI images and encompassed frontal predominant pachygyria merging with the posterior predominant band heterotopia. Two remaining patients showed mild involvement consistent with bilaterally simplified gyration over the frontal lobes. Taken together, we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. (c) 2016 Wiley Periodicals, Inc.
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- 2016
7. Update on theACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
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Di Donato, Nataliya, primary, Kuechler, Alma, additional, Vergano, Samantha, additional, Heinritz, Wolfram, additional, Bodurtha, Joann, additional, Merchant, Sabiha R., additional, Breningstall, Galen, additional, Ladda, Roger, additional, Sell, Susan, additional, Altmüller, Janine, additional, Bögershausen, Nina, additional, Timms, Andrew E., additional, Hackmann, Karl, additional, Schrock, Evelin, additional, Collins, Sarah, additional, Olds, Carissa, additional, Rump, Andreas, additional, and Dobyns, William B., additional
- Published
- 2016
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8. Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
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Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional
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- 2015
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9. Transcriptional regulator PRDM12 is essential for human pain perception
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Chen, Ya-Chun, primary, Auer-Grumbach, Michaela, additional, Matsukawa, Shinya, additional, Zitzelsberger, Manuela, additional, Themistocleous, Andreas C, additional, Strom, Tim M, additional, Samara, Chrysanthi, additional, Moore, Adrian W, additional, Cho, Lily Ting-Yin, additional, Young, Gareth T, additional, Weiss, Caecilia, additional, Schabhüttl, Maria, additional, Stucka, Rolf, additional, Schmid, Annina B, additional, Parman, Yesim, additional, Graul-Neumann, Luitgard, additional, Heinritz, Wolfram, additional, Passarge, Eberhard, additional, Watson, Rosemarie M, additional, Hertz, Jens Michael, additional, Moog, Ute, additional, Baumgartner, Manuela, additional, Valente, Enza Maria, additional, Pereira, Diego, additional, Restrepo, Carlos M, additional, Katona, Istvan, additional, Dusl, Marina, additional, Stendel, Claudia, additional, Wieland, Thomas, additional, Stafford, Fay, additional, Reimann, Frank, additional, von Au, Katja, additional, Finke, Christian, additional, Willems, Patrick J, additional, Nahorski, Michael S, additional, Shaikh, Samiha S, additional, Carvalho, Ofélia P, additional, Nicholas, Adeline K, additional, Karbani, Gulshan, additional, McAleer, Maeve A, additional, Cilio, Maria Roberta, additional, McHugh, John C, additional, Murphy, Sinead M, additional, Irvine, Alan D, additional, Jensen, Uffe Birk, additional, Windhager, Reinhard, additional, Weis, Joachim, additional, Bergmann, Carsten, additional, Rautenstrauss, Bernd, additional, Baets, Jonathan, additional, De Jonghe, Peter, additional, Reilly, Mary M, additional, Kropatsch, Regina, additional, Kurth, Ingo, additional, Chrast, Roman, additional, Michiue, Tatsuo, additional, Bennett, David L H, additional, Woods, C Geoffrey, additional, and Senderek, Jan, additional
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- 2015
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10. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
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Seifert, Wenke, primary, Meinecke, Peter, additional, Krüger, Gabriele, additional, Rossier, Eva, additional, Heinritz, Wolfram, additional, Wüsthof, Achim, additional, and Horn, Denise, additional
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- 2014
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11. Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
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Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, and Hertz, Jens Michael
- Subjects
PAIN perception ,TRANSCRIPTIONAL repressor CTCF - Abstract
A correction to the article "Transcriptional regulator PRDM12 is essential for human pain perception" that was published in the 25 May,2015 issue is presented.
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- 2015
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12. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
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Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal, Paul, Maimuna S, Duncan, Anna R, Genetti, Casie A, Pan, Hongling, Jackson, Adam, Grant, Patricia E, Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P, Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobia, Alhamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexi, Mullegama, Sureni V, Palculict, Timothy Blake, Calame, Daniel G, Schwan, Katharina, Aycinena, Alicia R P, Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, and Agrawal, Pankaj B
- Subjects
Genetics ,epilepsy ,Drosophila ,DEAD-box protein ,neurodevelopmental disorder ,Genetics (clinical) ,Article ,transcription factor - Abstract
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulated gene repression. Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all of whom have extremely rare de novo mono-allelic or inherited bi-allelic variants in EIF4A2. Neurodegeneration was predominantly reported in individuals with bi-allelic variants. Molecular modeling predicts these variants would perturb structural interactions in key protein domains. To determine the pathogenicity of the EIF4A2 variants in vivo, we examined the mono-allelic variants in Drosophila melanogaster (fruit fly) and identified variant-specific behavioral and developmental defects. The fruit fly homolog of EIF4A2 is eIF4A, a negative regulator of decapentaplegic (dpp) signaling that regulates embryo patterning, eye and wing morphogenesis, and stem cell identity determination. Our loss-of-function (LOF) rescue assay demonstrated a pupal lethality phenotype induced by loss of eIF4A, which was fully rescued with human EIF4A2 wild-type (WT) cDNA expression. In comparison, the EIF4A2 variant cDNAs failed or incompletely rescued the lethality. Overall, our findings reveal that EIF4A2 variants cause a genetic neurodevelopmental syndrome with both LOF and gain of function as underlying mechanisms.
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- 2023
13. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
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Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, and Dobyns WB
- Subjects
- Biomarkers, Brain pathology, Child, Preschool, DNA Mutational Analysis, Exome, Facies, Female, Genetic Association Studies, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Infant, Magnetic Resonance Imaging, Male, Phenotype, Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Actins genetics, Craniofacial Abnormalities diagnosis, Craniofacial Abnormalities genetics, Mutation, Missense
- Abstract
Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations in ACTG1-four novel and two previously reported. Only one of seven patients was clinically diagnosed with this disorder and underwent ACTB/ACTG1 targeted sequencing, four patients were screened as a part of the large lissencephaly cohort and two were tested with exome sequencing. Retrospectively, facial features were compatible with the diagnosis but significantly milder than previously reported in four patients, and non-specific in one. The pattern of malformations of cortical development was highly similar in four of six patients with available MRI images and encompassed frontal predominant pachygyria merging with the posterior predominant band heterotopia. Two remaining patients showed mild involvement consistent with bilaterally simplified gyration over the frontal lobes. Taken together, we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)
- Published
- 2016
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