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Article

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Clinical genetics - 1 Apr 2015

Longoni M, Russell M K, High F A, Darvishi K, Maalouf F I, Kashani A, Tracy A A, Coletti C M, Loscertales M, Lage K, Ackerman K G, Woods S A, Ward-Melver C, Andrews D, Lee C, Pober B R, Donahoe P K

Abstract excerpt

Zinc finger protein, FOG2 family member 2 (ZFPM2) (previously named FOG2) gene defects result in the highly morbid congenital diaphragmatic hernia (CDH) in humans and animal models. In a cohort of 275 CDH patient exomes, we estimated the prevalence of damaging ZFPM2 mutations to be almost 5%. Genetic analysis of a multigenerational family identified a heritable intragenic ZFPM2 deletion with an estimated...

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Source

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Identifiers

PMID: 24702427
DOI: 10.1111/cge.12395
PMCID: PMC4410767

Genes

ZFPM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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