De novo copy number variants are associated with congenital diaphragmatic hernia.

ABSTRACT:

Background

Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the aetiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH.

Methods

In this study, the authors investigated the frequency of chromosomal anomalies and copy number variants (CNVs) in 256 parent-child trios of CDH using clinical conventional cytogenetic and microarray analysis. The authors also selected a set of CDH related training genes to prioritise the genes in those segmental aneuploidies and identified the genes and gene sets that may contribute to the aetiology of CDH.

Results

T

SUBMITTER: Yu L 

PROVIDER: S-EPMC3696999 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature