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https://hdl.handle.net/2440/105719
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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 1546-1718 |
Statement of Responsibility: | 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 Phenotype Mutation Female Male Intellectual Disability |
Rights: | © 2017 Nature America, Inc., part of Springer Nature. All rights reserved. |
DOI: | 10.1038/ng.3792 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/566759 http://purl.org/au-research/grants/nhmrc/1044175 http://purl.org/au-research/grants/nhmrc/1006110 |
Published version: | http://dx.doi.org/10.1038/ng.3792 |
Appears in Collections: | Aurora harvest 3 Genetics publications |
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