Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

ABSTRACT:

Background

Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified.

Objective

To identify genomic alterations that contribute to the development of diaphragmatic defects.

Methods

A cohort of 45 unrelated patients with CDH or diaphragmatic eventrations was screened for genomic alterations by array comparative genomic hybridisation or single nucleotide polymorphism based copy number analysis.

Results

Genomic alterations that were likely to have contributed to the development of CDH were identified in 8 patients. Inherited deletions of ZFPM2 were identified in 2 patients with isolated diaphragmatic defects and a large de novo 8q deletion overlapping the same

SUBMITTER: Wat MJ 

PROVIDER: S-EPMC3227222 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature