Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder

Research in Autism Spectrum Disorders（2022）

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摘要

•CNVs encompassing the CNTN5 gene may increase the risk for ASD and broad neurodevelopmental disorders.•CNTN5 CNVs are rare and parents transmit the variant to their children with ASD and unaffected children at the same rate.•Framework to assess the role of rare and intermediate effect-size candidate variants in complex disorders

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关键词

ASD,CNTN5,CNV,CNS,CHU-SJ,SSC,SPARK,UKBB,WGS,SRS

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