title: A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
abstract: Congenital bilateal absence of the vas deferens (CBAVD) with obstructive azoospermia is a congenital reproductive disorder that affects one in 10000 male individuals. The observation that many men presenting with CBAVD have mutations in their CFTR genes had led to the proposal that CBAVD may be a primary genital form of cystic fibrosis. We report here one novel mutation located in exon 10 of the CFTR gene. This mutation, named D513G (A-->G at position 1670), has been found in one of 83 patients with CBAVD from France, the analysis of exon 10 using a chemical clamp DGGE assay allowed us to identify three CF mutations AEF508 (37/166; 22%), AE1507 (1/166; 0/6%) and D513G (1/166; 0.6%), and two variants M470V and E528E (1716 G>A). The novel D513G mutation has not been found in more than 200 non-CF chromosomes and in a sample of 300 CF chromosomes from French classical CF patients.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, CHU Cochin, 123 bld Port-Royal, 75014 Paris, France. bienvenu@cochin.inserm.fr
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: S
authors.initials: S
authors.lastname: Bousquet
authors.forename: D
authors.initials: D
authors.lastname: Vidaud
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.forename: C
authors.initials: C
authors.lastname: Francoual
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
mesh_terms: D000818:Animals; D002417:Cattle; D017124:Conserved Sequence; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005602:France; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator