• PMID: 9630075
• Gene Name: CFTR
• Condition: congenital bilateral agenesis of the vas deferens
• Association: The mutations W1282X and a new missense mutation P499A were identified in the patient
• Mutation: W1282X, P499A
• Population size: 1
• Population details: 1 CBAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital bilateral agenesis of the vas deferens, cystic fibrosis

Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene

Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO.

We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transmembrane regulator (CFTR) gene for a stop mutation W1282X and a new missense mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffian duct derivatives, are revealed only in combination with a severe CFTR mutation. FAU - Arduino, C AU - Arduino C AD - Servizio Universitario Convenzionato di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, Torino, Italy. FAU - Ferrone, M AU - Ferrone M FAU - Brusco, A AU - Brusco A FAU - Garnerone, S AU - Garnerone S FAU - Fontana, D AU - Fontana D FAU - Rolle, L AU - Rolle L