| Autor: |
Alireza Kashani, S A Woods, Kasper Lage, Faouzi I. Maalouf, Mauro Longoni, Frances A. High, D Andrews, C Ward-Melver, Charles Lee, Caroline Coletti, Patricia K. Donahoe, Katayoon Darvishi, Maria Loscertales, Adam Tracy, Barbara R. Pober, Meaghan K. Russell, Kate G. Ackerman |
| Rok vydání: |
2014 |
| Předmět: |
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| Zdroj: |
Clinical Genetics. 87:362-367 |
| ISSN: |
0009-9163 |
| DOI: |
10.1111/cge.12395 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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