Gene discoveries in autism are biased towards comorbidity with intellectual disability.

ABSTRACT:

Background

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.

Methods

We analysed 2290 individuals from the Simons Simplex Collection for de novo likely gene-disruptive (LGD) variants and copy-number variants (CNVs), and determined their relevance towards IQ and Social Responsiveness Scale (SRS) measures.

Results

Individuals who carried de novo variants in a set o

SUBMITTER: Jensen M 

PROVIDER: S-EPMC7483239 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature