Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome.

ABSTRACT:

Background

Hypoplastic left heart syndrome (HLHS) is a heterogeneous, lethal combination of congenital malformations characterized by severe underdevelopment of left heart structures, resulting in a univentricular circulation. The genetic determinants of this disorder are largely unknown. Evidence of copy number variants (CNVs) contributing to the genetic etiology of HLHS and other congenital heart defects has been mounting. However, the functional effects of such CNVs have not been examined, particularly in cases where the variant of interest is found in only a single patient.

Methods and results

Whole-genome SNP microarrays were employed to detect CNVs in two patient cohorts (N = 70 total) predominantly diagnosed with some form of nonsyndromic HLHS. We discovered 16 rare o

SUBMITTER: Glidewell SC 

PROVIDER: S-EPMC4703543 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature