title: Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.
abstract: BACKGROUND
  Congenital bilateral absence of vas deferens (CBAVD) is responsible for 2-6% of male infertility. It occurs in 95% of men with cystic fibrosis. This malformation is present in patients with a sterile obstructive azoospermia but without clinical evidence of cystic fibrosis. Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens.
  
  
  METHODS
  The study involved 20 male patients aged between 28-40 years, referred with suspected cystic fibrosis and in whom bilateral absence of vas deferens was confirmed by cyto-biochemical analyses and urogenital ultrasound. Molecular study of the CFTR gene was based on several techniques: DHPLC, DGGE and direct sequencing.
  
  
  RESULTS
  Thirteen patients had CFTR mutations: F508del, G542X, W1282X, E1104X, 711+1G → T, V201M (TG) m and IVS8-5T. These mutations were associated with polymorphisms: M470V and D1270N. Seven cases presented only polymorphisms.
  
  
  CONCLUSIONS
  The different mutations found in this study were associated with polymorphisms which decrease the severity of the disease and delay its onset. Thus, bilateral agenesis of the vas deferens is classed as a form of cystic fibrosis with only genital expression.
authors.affiliation: Laboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Boudaya
authors.forename: S Hadj
authors.initials: SH
authors.lastname: Fredj
authors.forename: R Bel
authors.initials: RB
authors.lastname: Haj
authors.forename: M
authors.initials: M
authors.lastname: Khrouf
authors.forename: A
authors.initials: A
authors.lastname: Bouker
authors.forename: L
authors.initials: L
authors.lastname: Halouani
authors.forename: T
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D000328:Adult; D000352:Africa, Northern; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator