Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

ABSTRACT:

Background

Previous research has implicated de novo and inherited truncating mutations in autism-spectrum disorder. We aim to investigate whether the load of inherited truncating mutations contributes similarly to high-functioning autism, and to characterize genes that harbour de novo variants in high-functioning autism.

Methods

We performed whole-exome sequencing in 20 high-functioning autism families (average IQ = 100).

Results

We observed no difference in the number of transmitted versus nontransmitted truncating alleles for high-functioning autism (117 v. 130, p = 0.78). Transmitted truncating and de novo variants in high-functioning autism were not enriched in gene ontology (GO) or Kyoto Encyclopedia of Genes and Genomes (KEGG) categories, or in autism-related ge

SUBMITTER: Torrico B 

PROVIDER: S-EPMC6710089 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature