Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.

ABSTRACT:

Background

Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder. We identified CNV regions arising from common ancestral mutations by utilizing the pedigree information. By combining this analysis with whole genome sequence data in the same individuals, we also explored the role of compound heterozygosity.

Results

Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a large number of Amish individuals. In addition, we highlight a set of CNVs found at higher frequencies in BP individuals, and within genes kno

SUBMITTER: Kember RL 

PROVIDER: S-EPMC4382929 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature