Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics
Authors:
Open Access
- 8 August 2014
- journal article
- research article
- Published by National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 111 (34) , 12450-12455
Abstract
Significance: Congenital diaphragmatic hernia (CDH) is a common birth defect associated with high morbidity and mortality. Focusing on the coding sequence of 51 genes, discovered in human studies and in mouse models, we studied 275 CDH patients and identified multiple variants in CDH-causing genes. Information on gene expression in embryonic mouse diaphragms and protein interactions allowed us to prioritize additional compelling CDH-associated genes. We believe that an improved understanding of the genetics of CDH will be important to design new therapeutic strategies for patients with diaphragmatic defects.Keywords
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