title: Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
abstract: Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. Patients with unilateral absence of the vas deferens (CUAVD) and patients with CAVD in association with renal agenesis appear to have a different aetiology to those with isolated CAVD. We have studied 134 Spanish CAVD patients [110 congenital bilateral absence of the vas deferens (CBAVD) and 24 CUAVD], 16 of whom (six CBAVD, 10 CUAVD) had additional renal anomalies. Forty-two different CFTR mutations were identified, seven of them being novel. Some 45% of the CFTR mutations were specific to CAVD, and were not found in patients with cystic fibrosis or in the general Spanish population. CFTR mutations were detected in 85% of CBAVD patients and in 38% of those with CUAVD. Among those patients with renal anomalies, 31% carried one CFTR mutation. Anomalies in seminal vesicles and ejaculatory ducts were common in patients with CAVD. The prevalence of cryptorchidism and inguinal hernia appeared to be increased in CAVD patients, as well as nasal pathology and frequent respiratory infections. This study confirms the molecular heterogeneity of CFTR mutations in CAVD, and emphasizes the importance of an extensive CFTR analysis in these patients. In contrast with previous studies, this report suggests that CFTR might have a role in urogenital anomalies.
authors.affiliation: Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Barcelona, Spain. tcasals@iro.es
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: L
authors.initials: L
authors.lastname: Bassas
authors.forename: S
authors.initials: S
authors.lastname: Egozcue
authors.forename: M D
authors.initials: MD
authors.lastname: Ramos
authors.forename: J
authors.initials: J
authors.lastname: Giménez
authors.forename: A
authors.initials: A
authors.lastname: Segura
authors.forename: F
authors.initials: F
authors.lastname: Garcia
authors.forename: M
authors.initials: M
authors.lastname: Carrera
authors.forename: S
authors.initials: S
authors.lastname: Larriba
authors.forename: J
authors.initials: J
authors.lastname: Sarquella
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism; D002712:Chlorides / Q000378:metabolism; D019343:Citric Acid / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005632:Fructose / Q000378:metabolism; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011859:Radiography; D012661:Semen / Q000378:metabolism; D014649:Vas Deferens / Q000002:abnormalities* / Q000000981:diagnostic imaging
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D019343:Citric Acid; D005632:Fructose