Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.

ABSTRACT:

Background

The Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cognitive levels and delayed age at walking, when compared to ASD participants without pdSNV. Here, we made use of a Swedish sample of individuals with ASD (called PAGES, for Population-Based Autism Genetics & Environment Study) to evaluate the frequency of pdSNV and their impact on medical and psychiatric phenotypes, using an epidemiological frame and universal health reporting. We then combine findings with those for potentially damaging copy number variation (pdCNV).

Methods

SNV and CNV calls were generated from whole-exome sequencing and

SUBMITTER: Mahjani B 

PROVIDER: S-EPMC8495954 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature