title: Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
abstract: 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.
authors.affiliation: Servizio Universitario Convenzionato di Genetica Medica, Azienda Ospedaliera S. Giovanni Battista, Torino, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Arduino
authors.forename: M
authors.initials: M
authors.lastname: Ferrone
authors.forename: A
authors.initials: A
authors.lastname: Brusco
authors.forename: S
authors.initials: S
authors.lastname: Garnerone
authors.forename: D
authors.initials: D
authors.lastname: Fontana
authors.forename: L
authors.initials: L
authors.lastname: Rolle
authors.forename: A O
authors.initials: AO
authors.lastname: Carbonara
mesh_terms: D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator