Title
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
Document Type
Article
Publication Date
4-2015
JAX Source
Clin Genet 2015 Apr; 87(4):362-7.
Volume
87
Issue
4
First Page
362
Last Page
367
ISSN
1399-0004
PMID
24702427
Abstract
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 penetrance of 37.5%, which has important implications for genetic counseling. Similarly, a low penetrance ZFPM2 frameshift mutation was observed in a second multiplex family. Isolated CDH was the predominant phenotype observed in our ZFPM2 mutation patients. Findings from the patients described herein indicate that ZFPM2 point mutations or deletions are a recurring cause of CDH. Clin Genet 2015 Apr; 87(4):362-7.
Recommended Citation
Longoni M,
Russell M,
High F,
Darvishi K,
Maalouf F,
Kashani A,
Tracy A,
Coletti C,
Loscertales M,
Lage K,
Ackerman K,
Woods S,
Ward-Melver C,
Andrews D,
Lee C,
Pober B,
Donahoe P.
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet 2015 Apr; 87(4):362-7.