CFTR gene mutations and clinical correlation in Indian patients with congenital bilateral absence of the vas deferens

Cystic fibrosis (CF) is the most common potentially lethal autosomal recessive disorder. Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. Here different mutations of CFTR and the poly-T variant of intron 8 (IVS8) in Indian patients (Sagar district of MP) were identified and sweat test values and clinical characteristic related to Cystic Fibrosis (CF) were analyzed. For counseling purposes, the most frequent possible mutation in Indian population: deltaF508 was screened in wives. Four patients (23%) showed abnormal chloride values (> 60 mmol/l). A second group of 3 patients (18%) had borderline values of sweat chloride (40-59 mmol/l). Another group with 3 patients (18%), with normal sweat chloride levels (30-39 mmo/l) and a fourth group of 8 (41%) patients with sweat chloride below 30 mmol/l. deltaF508 muation was found in 3 of the 18 patients (16%). On a sample of 14 patients, IVS8 analysis showed a frequency of 6/56 chromosomes (11%) of 5T allele. Even though these findings present an improvement in the detection of mutations related to clinical correlations in Indian patients (Sagar district of MP) CBAVD population, the search for other common and uncommon mutations should be continued.