Implication du gène CFTR dans la stérilité masculine associée à une absence de canaux déférents

Abstract

Congenital bilateral absence of vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed the 27 exons of the CF gene by denaturing high-performance liquid chromatography and the intron-8 polypyrimidine tract length variants by sequencing in a cohort of 291 CBAVD patients. CBAVD patients can be classified in four categories: 72 patients with two CFTR mutations (25%); 65 patients with one CFTR mutation and the 5T allele in trans (22%); 56 patients with only one CFTR mutation or only the 5T allele (19%); 98 patients without CFTR mutations and 5T allele (34%). Seventy different mutations were identified. The most frequent mutations are delF508del (36%), the 5T allele (30%) and R117H (7%). The high proportion of CBAVD who do not have CFTR mutations allows suggesting two hypotheses: other undetected chandes in CFTR may be involved in CBAVD or another gene(s) could be responsible for CBAVD.