Distribution of disease-associated copy number variants across distinct disorders of cognitive development.

ABSTRACT:

Objective

The purpose of the present study was to discover the extent to which distinct DSM disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs.

Method

Systematic review of 820 PubMed articles on autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia, and epilepsy produced 54 CNVs associated with one or several disorders. Pathway analysis on genes implicated by CNVs in different groupings was conducted.

Results

The majority of CNVs were found in ID with the other disorders somewhat subsumed, yet certain CNVs were associated with isolated or groups of disorders. Base

SUBMITTER: Pescosolido MF 

PROVIDER: S-EPMC3774163 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature