作者
Elaine M Kenny, Paul Cormican, Sarah Furlong, Eleisa Heron, Graham Kenny, Ciara Fahey, Eric Kelleher, Sean Ennis, Daniela Tropea, Richard Anney, Aiden P Corvin, Gary Donohoe, Louise Gallagher, Michael Gill, Derek W Morris
发表日期
2014/8
期刊
Molecular psychiatry
卷号
19
期号
8
页码范围
872-879
出版商
Nature Publishing Group
简介
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as:(1) Neurexin and Neuroligin Interacting Proteins,(2) Post-synaptic Glutamate Receptor Complexes,(3) Neural Cell Adhesion Molecules,(4) DISC1 and Interactors and (5) Functional and Positional Candidates. Thirty-one novel loss-of-function (LoF) variants that are predicted to severely disrupt protein-coding sequence were detected among 2 861 rare variants. We found an excess of LoF variants in the combined cases compared with controls (P= 0.02). This effect was stronger when analysis was limited to singleton …
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EM Kenny, P Cormican, S Furlong, E Heron, G Kenny… - Molecular psychiatry, 2014