Truncating SRCAP Variants Outside the Floating-Harbor Syndrome Locus Cause a Distinct Neurodevelopmental Disorder with a Specific DNA Methylation Signature

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. 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 Ounap,Karit Reinson,Sander Pajusalu,Arie van Haeringen,Claudia Ruivenkamp,Roos Cuperus,Fernando Santos-Simarro,Maria Palomares-Bralo,Marta Pacio-Miguez,Alyssa Ritter,Elizabeth Bhoj,Elin Tonne,Kristian Tveten,Gerarda Cappuccio,Nicola Brunetti-Pierri, Leah Rowe,Jason Bunn,Margarita Saenz,Konrad Platzer,Mareike Mertens,Oana Caluseriu,Malgorzata 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

The American Journal of Human Genetics（2021）

引用 47|浏览73

关键词

SRCAP,Floating-Harbor syndrome,speech delay,intellectual disability,DNA methylation signature,neurodevelopmental disorders,non-FLHS SRCAP-related NDD,genotype-phenotype correlation,nonsense-mediated decay,epigenomics

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