• PMID: 7539342
• Gene Name: CFTR
• Condition: Congenital bilateral absence of the vas deferens (CBAVD)
• Association: Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed i
• Mutation: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case)
• Population size: 25
• Population details: 25 CBAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of the vas deferens (CBAVD)

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens

Jézéquel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M.

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. We discuss the significance of these results. FAU - Jézéquel, P AU - Jézéquel P AD - Laboratoire de Génétique Moléculaire, C.H.U. Pontchaillou, Rennes, France. FAU - Dorval, I AU - Dorval I FAU - Fergelot, P AU - Fergelot P FAU - Chauvel, B AU - Chauvel B FAU - Le Treut, A AU - Le Treut A FAU - Le Gall, J Y AU - Le Gall JY FAU - Le Lannou, D AU - Le Lannou D