Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

ABSTRACT:

Background

Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing data in 2671 families with autism (discovery cohort of 516 families, replication cohort of 2155 families). We focused on DNVs in enhancers with characterized in vivo activity in the brain and identified an excess of DNVs in an enhancer named hs737.

Results

We adapted the fitDNM statistical model to work in noncoding regions and tested enhancers for excess of DNVs in fami

SUBMITTER: Padhi EM 

PROVIDER: S-EPMC8278787 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature