• PMID: 11101688
• Gene Name: CFTR
• Condition: Congenital absence of the vas deferens (CAVD)
• Association: In this study we have screened the entirety ofCFTR gene in 47 males with anomalies of the vas deferens: 37 cases of congenital bilateral absence of the vas deferens, three cases of congenitalunilateral absence of the vas deferens and seven cases of obstru
• Mutation: 2789+2insA, L1227S, 4428insGA, DeltaDeltaF508 mutation, R117H
• Population size: 47
• Population details: 47 males with anomalies of the vas deferens
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital absence of the vas deferens (CAVD)

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations

Jézéquel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V.

Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. The genotype of these patients includes mutations in the CFTR gene, e.g. DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. In this study we have screened the entirety of CFTR gene in 47 males with anomalies of the vas deferens: 37 cases of congenital bilateral absence of the vas deferens, three cases of congenital unilateral absence of the vas deferens and seven cases of obstructive azoospermia with hypoplastic vas deferens. Among the 94 chromosomes studied, 65 mutations, of which three are novel (2789+2insA, L1227S, 4428insGA), were identified. The majority of patients (63.8%) had two detectable CFTR gene mutations. Furthermore, high frequencies of the DeltaDeltaF508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed. FAU - Jézéquel, P AU - Jézéquel P AD - Laboratoire de Génétique Moléculaire et Hormonologie, et UPR 41 CNRS, CHU Pontchaillou, F-35033 Rennes cedex, France. FAU - Dubourg, C AU - Dubourg C FAU - Le Lannou, D AU - Le Lannou D FAU - Odent, S AU - Odent S FAU - Le Gall, J Y AU - Le Gall JY FAU - Blayau, M AU - Blayau M FAU - Le Treut, A AU - Le Treut A