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Exploring the impact of structural variants on the genetic etiology of autism spectrum disorder and

Rohan Alibutud, Sammy Hansali1, Xiaolong Cao, Anbo Zhou, Vaidhyanathan Mahaganapathy, Marco Azaro, Christine Gwin, Sherri Wilson, Steven Buyske, Christopher W. Bartlett3, Judy F. Flax, Linda M. Brzustowicz1, Jinchuan Xing

Poster # 20

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restrictive interests and/or repetitive behaviors and deficits in social interaction and communication. ASD has a complex polygenic genetic architecture, and its contributing factors are not yet fully understood, especially large structural variations. In this study we aim to assess the contribution of structural variations, including copy number variants (CNVs), insertions, deletions, duplications, and mobile element insertions, to ASD and related language impairments in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Within the cohort ~77% of the families contain structural variations that followed expected segregation or de novo patterns and passed our filtering criteria. These structural variations affected 270 brain-expressed genes and can potentially contribute to the genetic etiology of the disorders. Gene Ontology and protein-protein interaction network analysis suggested several clusters of genes in different function categories, such as components of axon and histone modification machinery. Genes and biological processes identified in this study contribute to the understanding of ASD and related neurodevelopment disorders.

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