Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

ABSTRACT:

Background

Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS.

Methods

We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database.

Results

We identified 28 CNVs in 17 cases; several encompassed genes important for right heart d

SUBMITTER: Dimopoulos A 

PROVIDER: S-EPMC5388571 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature