Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

ABSTRACT: This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate autism genes in independent simplex families, including both four known and two novel autosomal dominant and autosomal recessive genes associated with ASD. The variants consisted primarily of de novo and homozygous missense and splice variants. Multiple individuals displayed more than one candidate variant, suggesting the potential involvement of digenic or oligogenic models. These variants were absent in the Genome Aggregation Database (gnomAD) and exhibited extremely low frequencies in the local control population dataset. Two novel autism genes, TRPC4 and SCFD2, were discovered in two Qatar

SUBMITTER: Gupta V 

PROVIDER: S-EPMC10644705 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature