Recessive gene disruptions in autism spectrum disorder.

ABSTRACT: Autism spectrum disorder (ASD) affects up to 1 in 59 individuals¹. Genome-wide association and large-scale sequencing studies strongly implicate both common variants^2-4 and rare de novo variants^5-10 in ASD. Recessive mutations have also been implicated^11-14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (

SUBMITTER: Doan RN 

PROVIDER: S-EPMC6629034 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature