Article
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
American journal of human genetics - 3 Mar 2016
Stessman Holly A F, Willemsen Marjolein H, Fenckova Michaela, Penn Osnat, Hoischen Alexander, Xiong Bo, Wang Tianyun, Hoekzema Kendra, Vives Laura, Vogel Ida, Brunner Han G, van der Burgt Ineke, Ockeloen Charlotte W, Schuurs-Hoeijmakers Janneke H, Klein Wassink-Ruiter Jolien S, Stumpel Connie, Stevens Servi J C, Vles Hans S, Marcelis Carlo M, van Bokhoven Hans, Cantagrel Vincent, Colleaux Laurence, Nicouleau Michael, Lyonnet Stanislas, Bernier Raphael A, Gerdts Jennifer, Coe Bradley P, Romano Corrado, Alberti Antonino, Grillo Lucia, Scuderi Carmela, Nordenskjöld Magnus, Kvarnung Malin, Guo Hui, Xia Kun, Piton Amélie, Gerard Bénédicte, Genevieve David, Delobel Bruno, Lehalle Daphne, Perrin Laurence, Prieur Fabienne, Thevenon Julien, Gecz Jozef, Shaw Marie, Pfundt Rolph, Keren Boris, Jacquette Aurelia, Schenck Annette, Eichler Evan E, Kleefstra Tjitske
Abstract excerpt
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by...
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