Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study

Abstract

Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories on this pathophysiology relate to pathogenic mutations in the cystic fibrosis transmembrane regulator gene leading to agenesis or obliteration of vas deferens in utero. In this study, we present a case of two brothers with congenital anomalies of the vas deferens who were found to have carried a rare, heterozygous cystic fibrosis transmembrane regulator variant p.r347h without pulmonary or gastrointestinal signs or symptoms of cystic fibrosis .