Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B A de Vries, A Chantal Deden, Erika Leenders, Michael Kwint, Constance T R M Stumpel, Servi J C Stevens, Jeroen R Vermeulen, Jeske V T van Harssel, Danielle G M Bosch, Koen L I van Gassen, Ellen van Binsbergen, Christa M de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan Strober, Amy Crunk, Leandra Folk, Ingrid M Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian B Ousager, Martin Larsen, Laura Schultz-Rogers, Eva Morava, Eric W Klee, Ian R Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M Neumeyer, Jessica A Radley, Chanika Phornphutkul, Berkley Schmidt, William G Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos-Simarro, María Palomares-Bralo, Marta Pacio-Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti-Pierri, Leah Rowe, Jason Bunn, Margarita Saenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J M Nowaczyk, Ronald D Cohn, Peter Kannu, Ebba Alkhunaizi, David Chitayat, Stephen W Scherer, Han G Brunner, Lisenka E L M Vissers, Tjitske Kleefstra, David A Koolen, Rosanna Weksberg
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia...
June 3, 2021: American Journal of Human Genetics