Indian Journal of Medical Research

ORIGINAL ARTICLE
Year
: 2016  |  Volume : 143  |  Issue : 5  |  Page : 616--623

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies


Rahul Gajbhiye1, Kaushiki Kadam2, Aalok Khole3, Avinash Gaikwad1, Seema Kadam1, Rupin Shah4, Rangaswamy Kumaraswamy5, Vrinda Khole2 
1 Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India
2 Department of Gamete Immunobiology, National Institute for Research in Reproductive Health (ICMR), Mumbai, India
3 Saint Vincent Hospital, Worcester, USA
4 Lilavati Hospital & Research Center, Mumbai, India
5 Sudha Hospital, Erode, India

Correspondence Address:
Dr Rahul Gajbhiye
Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), J.M. Street, Parel, Mumbai 400 012, Maharashtra
India

Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings.


How to cite this article:
Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, Kumaraswamy R, Khole V. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.Indian J Med Res 2016;143:616-623


How to cite this URL:
Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, Kumaraswamy R, Khole V. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies. Indian J Med Res [serial online] 2016 [cited 2021 Jun 21 ];143:616-623
Available from: https://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=5;spage=616;epage=623;aulast=Gajbhiye;type=0