Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
Nature genetics, 2017nature.com
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 …
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.
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