Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
Clin Genet 2015 Apr; 87(4):362-7.
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.
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, Charles; Pober, B R; and Donahoe, P K, "Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia." (2015). Faculty Research 2015. 50.