Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.

Background: Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The molecular basis of CBAVD is not completely understood, especially in developing countries.

Methods: We characterized the mutations/variants in the CFTR gene by single strand conformation polymorphism followed by sequencing in 35 CBAVD patients. None of the patients had systemic manifestations of cystic fibrosis. Fifty normal subjects were studied as controls.

Results: Mutations/variants in the CFTR gene were found in all CBAVD patients. Five mutations and 10 variants were detected in 35 patients. The most frequent severe mutation was F508del (34.2%) and the most common variant was IVS8-5T (54.2%). Two novel severe mutations (p.E217Gfs*11 and p.A1285V) and four novel variants (pT438A, c.4095+30insCT, c.-737G>A, and c.2909-92A>G) were detected.

Conclusion: The protocol for identification of mutations in cases of CBAVD in developing countries would have to include a different set of mutations than those reported from western countries.