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Review
. 2020 Feb;44(1):151169.
doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1.

The influence of genetics in congenital diaphragmatic hernia

Lan Yu  1 , Rebecca R Hernan  1 , Julia Wynn  1 , Wendy K Chung  2
Affiliations
Review

The influence of genetics in congenital diaphragmatic hernia

Lan Yu et al. Semin Perinatol. 2020 Feb.

Abstract

Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.

Keywords: CDH; Chromosomal anomalies; Congenital diaphragmatic hernia; Gene.

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Conflict of interest statement

DISCLOSURE

There is no conflict of interest for all authors

Figures

Figure 1.
Figure 1.. Chromosomal anomalies and genes associated with CDH from mouse models and humans.
Duplicated (blue) and deleted (red) copy number variants identified in patients with CDH Genes implicated by mouse models (black), monogenetic syndromes (green) and/or patients with isolated CDH or with multiple malformations (purple). Aneuploidies are not shown.
See this image and copyright information in PMC

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