Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

ABSTRACT: The study of extended pedigrees containing autism spectrum disorder- (ASD-) related broader autism phenotypes (BAP) offers a promising approach to the search for ASD candidate variants. Here, a total of 650,000 genetic markers were tested in four Kazakhstani multiplex families with ASD and BAP to obtain data on de novo mutations (DNMs), common, and rare inherited variants that may contribute to the genetic risk for developing autistic traits. The variants were analyzed in the context of gene networks and pathways. Several previously well-described enriched pathways were identified, including ion channel activity, regulation of synaptic function, and membrane depolarization. Perhaps these pathways are crucial not only for the development of ASD but also for ВАР. The results also poin

SUBMITTER: Perfilyeva A 

PROVIDER: S-EPMC9529466 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature