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Type: Journal article
Title: Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Author: Stessman, H.
Xiong, B.
Coe, B.
Wang, T.
Hoekzema, K.
Fenckova, M.
Kvarnung, M.
Gerdts, J.
Trinh, S.
Cosemans, N.
Vives, L.
Lin, J.
Turner, T.
Santen, G.
Ruivenkamp, C.
Kriek, M.
Van Haeringen, A.
Aten, E.
Friend, K.
Liebelt, J.
et al.
Citation: Nature Genetics, 2017; 49(4):515-526
Publisher: Nature Publishing Group
Issue Date: 2017
ISSN: 1061-4036
Statement of
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
Abstract: Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
Keywords: Humans
Autistic Disorder
Developmental Disabilities
Intellectual Disability
Rights: © 2017 Nature America, Inc., part of Springer Nature. All rights reserved.
DOI: 10.1038/ng.3792
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