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

• Published in: Molecular human reproduction Vol. 6; no. 12; pp. 1063 - 1067
• Main Authors: Jézéquel, Pascal, Dubourg, Christèle, Le Lannou, Dominique, Odent, Sylvie, Le Gall, Jean-Yves, Blayau, Martine, Le Treut, André, David, Véronique
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01-12-2000; Oxford Publishing Limited (England)
• Subjects: Adult; Alleles; Biological and medical sciences; CAVD; CFTR; Cohort Studies; cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; gene mutations; Genetic Testing; Gynecology. Andrology. Obstetrics; Humans; Male; Male genital diseases; male infertility; Medical sciences; Mutation; Non tumoral diseases; Oligospermia - genetics; Vas Deferens - abnormalities; Human; Semen pathway; Genetic marker; Respiratory disease; Metabolic diseases; Cystic fibrosis; Male genital duct; Congenital disease; Vas deferens; Genetic disease; Cohort study; Digestive diseases; Male sterility; Mutation; Cystic fibrosis transmembrane conductance regulator; Male genital diseases; Pancreatic disease
• ISSN: 1360-9947; 1460-2407; 1460-2407
• DOI: 10.1093/molehr/6.12.1063

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. ΔΔF508, 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 ΔΔF508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed.