title: A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
abstract: Cystic fibrosis is the most common autosomal disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin Paris, France.
authors.forename: Angele
authors.initials: A
authors.lastname: Ngukam
authors.forename: Marie Line
authors.initials: ML
authors.lastname: Jacquemont
authors.forename: Isabelle
authors.initials: I
authors.lastname: Souville
authors.forename: Marion
authors.initials: M
authors.lastname: Viel
authors.forename: Cherif
authors.initials: C
authors.lastname: Beldjord
authors.forename: Dominique
authors.initials: D
authors.lastname: Hubert
authors.forename: Jean-Noël
authors.initials: JN
authors.lastname: Hughes
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007812:Laos; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator