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

Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-med iated phenotype, with a broad spectrum of abnormalities causing male infert ility. The genotype of these patients includes mutations in the CFTR gene, e.g. Delta F508, R117H and the T5 allele; all of which are commonly found i n CAVD. In this study we have screened the entirety of CFTR gene in 47 male s with anomalies of the vas deferens: 37 cases of congenital bilateral abse nce of the vas deferens, three cases of congenital unilateral absence of th e vas deferens and seven cases of obstructive azoospermia with hypoplastic vas deferens. Among the 94 chromosomes studied, 65 mutations, of which thre e are novel (2789 + 2insA, L1227S, 4428insGA), were identified. The majorit y of patients (63.8%) had two detectable CFTR gene mutations. Furthermore, high frequencies of the Delta F508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed.