• PMID: 27488005
• Gene Name: CFTR
• Condition: Male infertility
• Association: Associated
• Mutation: c.1540A>G, c.2694T>G , c.4521G>A, IVS8-5T , c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC, c.4375-69C>T, M470V, T854T, P1290P, Q1463Q, 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
• Population size: 37
• Population details: 37 (5 Indian infertile males having CBAVD-URA, 32 halthy controls )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

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

Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, Kumaraswamy R, Khole V.

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. FAU - Gajbhiye, Rahul AU - Gajbhiye R AD - Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India. FAU - Kadam, Kaushiki AU - Kadam K AD - Department of Gamete Immunobiology, National Institute for Research in Reproductive Health (ICMR), Mumbai, India. FAU - Khole, Aalok AU - Khole A AD - Saint Vincent Hospital, Worcester, USA. FAU - Gaikwad, Avinash AU - Gaikwad A AD - Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India. FAU - Kadam, Seema AU - Kadam S AD - Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India. FAU - Shah, Rupin AU - Shah R AD - Lilavati Hospital & Research Center, Mumbai, India. FAU - Kumaraswamy, Rangaswamy AU - Kumaraswamy R AD - Sudha Hospital, Erode, India.