• PMID: 9043501
• Gene Name: CFTR
• Condition: congenital bilateral agenesis of the vas deferens
• Association: All patients were in good health and without clinical evidence of cystic fibrosis. CFTR gene mutations were found in 70% of patients with CBAVD.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital bilateral agenesis of the vas deferens

The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland

Donat R, McNeill AS, Fitzpatrick DR, Hargreave TB.

OBJECTIVE: To examine the incidence of cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in Scottish patients with congenital bilateral absence of the vas deferens (CBAVD). PATIENTS AND METHODS: Thirty patients with CBAVD presenting consecutively to the Edinburgh infertility clinic were examined for CFTR gene mutations. All patients were assessed clinically and tested for 15 gene mutations using a single-tube polymerase chain-reaction multiplex system. RESULTS: All patients were in good health and without clinical evidence of cystic fibrosis. CFTR gene mutations were found in 70% of patients with CBAVD. CONCLUSION: CFTR gene-testing and genetic counselling are important in all men with CBAVD. FAU - Donat, R AU - Donat R AD - Urology Department, Western General Hospital, Edinburgh, UK. FAU - McNeill, A S AU - McNeill AS FAU - Fitzpatrick, D R AU - Fitzpatrick DR