A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Autor: Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Wayne W. Grody, Samuel P. Strom, Eric Vilain, Joshua Deignan, Fabiola Quintero-Rivera, Sibel Kantarci, Sureni Mullegama, Sung-Hae Kang, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Azamian S. Mashid, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Lorraine Potocki, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Andrea L. Gropman, Yong-hui Jiang, Loren D.M. Pena, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Dan C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matt T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell’Angelica, Katrina M. Dipple, Matthew R. Herzog, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Janet S. Sinsheimer, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary 'Gracie' G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson, Joy D. Cogan

Publikováno v: The American Journal of Human Genetics. 100:343-351

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8910f952c879a58bfc4156ed97d28079
https://doi.org/10.1016/j.ajhg.2016.12.013

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Autor: Colleen E. Wahl, Ingrid A. Holm, Jonathan A. Bernstein, Mitja I. Kurki, Annika M. Dries, Alexander Hoischen, Patrick Allard, Janet S. Sinsheimer, J. Scott Newberry, Maysantoine A. El-Dairi, David R. Adams, Anna C. Need, Mitchell Goheen, Camilo Toro, Outi Kuismin, Andrea L. Gropman, Fanny Kortüm, Lindsay C. Burrage, Braden E. Boone, Nicole M. Walley, Lori H. Handley, Daryl A. Scott, Donna Muzny, Jane S. Bellet, Lance H. Rodan, Catherine Groden, Paul Mazur, Christina G.S. Palmer, Megan W. Butler, Azamian S. Mashid, Brendan Lee, Peter G. Kranz, Alexa T. McCray, Yaping Yang, Hane Lee, David A. Sweetser, Lynne A. Wolfe, Richard Alan Lewis, Sylvia Klinkenberg, Trevor S. Frisby, Lea Latham, Elizabeth A. Worthey, Michele Nehrebecky, William J. Craigen, Donna M. Brown, Constance T. R. M. Stumpel, Laura A. Mamounas, Michael F. Wangler, Lauren C. Briere, Alanna E. Koehler, Sarah Sadozai, Shinya Yamamoto, Kate Frost, Michael Freemark, Carson R. Loomis, Slavé Petrovski, Christine M. Eng, Barbara K. Burton, Hugo J. Bellen, Angela L. Jones, Esteban C. Dell Angelica, A. Bacino, Camille L. Birch, David Goldstein, Tran A. Alyssa, Joan M. Stoler, Yong-hui Jiang, Scott E. Hickey, Paul R. Lee, Jennifer A. Sullivan, William A. Gahl, Christopher J. Adams, Rebecca C. Spillmann, Katherine H. Kim, Daryl Waggott, Seema R. Lalani, Denise J. Levy, René Santer, May V. Malicdan, Donna Novacic, John H. Postlethwait, Kimberly Splinter, Laurel A. Donnell-Fink, Jean M. Johnston, Richard L. Maas, Alexandra J. McCarty, Gretchen Golas, Sarah K. Nicholas, Donna M. Krasnewich, David D. Draper, Cynthia J. Tifft, Cecilia Esteves, David M. Koeller, John A. Phillips, Chris A. Walsh, Palotie Aarno, Gary D. Clark, Howard J. Jacob, Katherine E. Schaffer, Magdalena Walkiewicz, Satu Korpi-Heikkila, Karin Oberndorff, David P. Bick, Isabel Hardee, Valerie Maduro, John J. Mulvihill, Elizabeth A. Burke, Thomas C. Markello, Yvonne L. Latour, Adam P. Liebendorder, Ashok Balasubramanyam, David J. Eckstein, Elizabeth L. Krieg, M. T. Cho, Teri A. Manolio, Katherine R. Chao, Alan H. Beggs, Patricia A. Zornio, Valerie Gartner, Chyau Yueh C Lau, Monte Westerfield, Issac S. Kohane, Jyoti G. Dayal, Rena A. Godfrey, Thomas O. Metz, John H. Newman, Brett H. Graham, Alec A. Weech, Joe Lazar, Mike Warburton, Anastasia L. Wise, Nicholas Stong, Shweta U. Dhar, Matthew R. Herzog, Joel B. Krier, Jennefer N. Kohler, Guoyun Yu, Neil A. Hanchard, Edwin K. Silverman, Christine M. Shuss, Kim A. Strong, Olli Pietilainen, Casey Martin, Mariska Davids, Prashant Sharma, Joseph Loscalzo, Lorraine Potocki, Nathanial J. Tolman, Joy D. Cogan, Matthew Might, Barbara N. Pusey, Naghmeh Dorrani, Sharyn A. Lincoln, Euan A. Ashley, Mahim Jain, Jennifer L. Murphy, Stan F. Nelson, Patricia A. Ward, Shawn Levy, Kelly Schoch, Katrina M. Dipple, Paul G. Fisher, Cynthia M. Cooper, Vandana Shashi, Juan C. Pallais, Martha Ann Keels, Jennifer E. Posey, Heather M. McLaughlin, Calum A. MacRae, Eric Vilain, Molly C. Schroeder, Mary E. Hackbarth, Sara P. Thomas, Lisa Emrick, Ariane Soldatos, Allyn McConkie-Rosell, Ellen Macnamara, Melanie J. Bonner, Hayk Barseghyan, Tyra Estwick, Alejandro E. Mercedes, Malik Alawi, Maja Hempel, Matthew T. Wheeler, Jordan S. Orange, Paolo M. Moretti, Brenda Iglesias, Rachel Ramoni, Loren D M Pena, Zaheer M. Valivullah, Mary 'Gracie' G. Gordon, Rizwan Hamid, Jeanette C. Papp, Dan C. Dorset, Jill A. Rosenfeld

Publikováno v: American Journal of Human Genetics, 99, 991-999
American Journal of Human Genetics, 99, 4, pp. 991-999
American Journal of Human Genetics, 100, 1, pp. 179
American Journal of Human Genetics, 100, 179
American Journal of Human Genetics, 99(4), 991-999. Cell Press

Item does not contain fulltext The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44e4831dd3e02760631dd22e1bbb1d6
http://hdl.handle.net/2066/167201