Open AccessGene discoveries in autism are biased towards comorbidity with intellectual disability
Author(s) -
Matthew Jensen,
Corrine Smolen,
Santhosh Girirajan
Publication year - 2020
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106476
Subject(s) - autism , comorbidity , intellectual disability , genetics , copy number variation , gene , autism spectrum disorder , phenotype , psychology , biology , psychiatry , genome
Autism typically presents with highly heterogeneous features, including frequent comorbidity with intellectual disability (ID). The overlap between these phenotypes has confounded the diagnosis and discovery of genetic factors associated with autism. We analysed pathogenic de novo genetic variants in individuals with autism who had either ID or normal cognitive function to determine whether genes associated with autism also contribute towards ID comorbidity.