Journal article

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung-Hyun Kim, Deepali N Shinde, Margot RF Reijnders, Natalie S Hauser, Rebecca L Belmonte, Gregory R Wilson, Danielle GM Bosch, Paula A Bubulya, Vandana Shashi, Slave Petrovski, Joshua K Stone, Eun Young Park, Joris A Veltman, Margje Sinnema, Connie TRM Stumpel, Jos M Draaisma, Joost Nicolai, Helger G Yntema, Kristin Lindstrom, Bert BA de Vries Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2016

University of Melbourne Researchers


Awarded by National Heart, Lung, and Blood Institute

Awarded by NIH

Awarded by Stichting ODAS

Awarded by Dutch Organization for Health Research and Development

Funding Acknowledgements

We are deeply grateful to all individuals and their families for participating in this study. We thank Dr. Michael Markey (Wright State University) for transcript splicing analysis, Dr. David Goldstein, Jennifer Sullivan, and Nicole Walley (Duke University) for their help in collecting clinical information, Petra de Vries (Radboudumc) and Hermann-Josef Ludecke (University Duisburg-Essen) for technical support, and Dr. Christian Gilissen (Radboudumc) for bioinformatic support. We thank the University of Washington Center for Mendelian Genomics (funded by the National Human Genome Research Institute and National Heart, Lung, and Blood Institute grant 1U54HG006493 to Drs. Debbie Nickerson, Jay Shendure, and Michael Bamshad) and the Radboudumc Genomics Technology Center for family-based sequencing. This work was supported by NIH grants (CA190688 and CA185818 to E.-Y.E.A. and GM084407 to P.A.B.), a start-up fund from the University of South Alabama Mitchell Cancer Institute (to E.-Y.E.A.), the Ohio Board of Regents (to P.A.B.), a California State University Chico Internal Research Grant (to D.L.S.), grants from Stichting ODAS and Vereniging Bartimeus-Sonneheerdt (5781251 to B.B.A.d.V. and D.G.M.B.), and a grant from the Dutch Organization for Health Research and Development (912-12-109 to B.B.A.d.V. and J.A.V.). This study used data generated by the DECIPHER Consortium. A full list of centers who contributed to the generation of the data is available at and via email at Funding for the DECIPHER project was provided by the Wellcome Trust.