Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.

ABSTRACT: Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed properly. It may occur either as an isolated anomaly or with additional anomalies. It is thought to be a multifactorial disease in which genetic factors could either substantially contribute to or directly result in the developmental defect. Patients with aneuploidies, pathogenic variants or de novo Copy Number Variations (CNVs) impacting specific genes and loci develop CDH typically in the form of a monogenetic syndrome. These patients often have other associated anatomical malformations. In patients without a known monogenetic syndrome, an increased genetic burden of de novo coding variants contributes to disease development. In early years, genetic evaluation w

SUBMITTER: Brosens E 

PROVIDER: S-EPMC8852845 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature