Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

ABSTRACT: With its high rate of consanguineous marriages and diverse ethnic population, little is currently understood about the genetic architecture of autism spectrum disorder (ASD) in Pakistan. Pakistan has a highly ethnically diverse population, yet with a high proportion of endogamous marriages, and is therefore anticipated to be enriched for biallelic disease-relate variants. Here, we attempt to determine the underlying genetic abnormalities causing ASD in thirty-six small simplex or multiplex families from Pakistan. Microarray genotyping followed by homozygosity mapping, copy number variation analysis, and whole exome sequencing were used to identify candidate. Given the high levels of consanguineous marriages among these families, autosomal recessively inherited variants were prioritized, ho

SUBMITTER: Khan H 

PROVIDER: S-EPMC11035605 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature