Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.

ABSTRACT:

Background

Copy number variations (CNVs) can contribute to variable degrees of fitness and/or disease predisposition. Recent studies show that at least 1% of any given genome is copy number variable when compared to the human reference sequence assembly. Homozygous deletions (or CNV nulls) that are found in the normal population are of particular interest because they may serve to define non-essential genes in human biology.

Results

In a genomic screen investigating CNV in Autism Spectrum Disorders (ASDs) we detected a heterozygous deletion on chromosome 10p12.1, spanning the Patched-domain containing 3 (PTCHD3) gene, at a frequency of ~1.4% (6/427). This finding seemed interesting, given recent discoveries on the role of another Patched-domain containing gene (PTCHD1) in AS

SUBMITTER: Ghahramani Seno MM 

PROVIDER: S-EPMC3072306 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature