title: Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India.
authors.forename: Rahul
authors.initials: R
authors.lastname: Gajbhiye
authors.affiliation: Department of Gamete Immunobiology, National Institute for Research in Reproductive Health (ICMR), Mumbai, India.
authors.forename: Kaushiki
authors.initials: K
authors.lastname: Kadam
authors.affiliation: Saint Vincent Hospital, Worcester, USA.
authors.forename: Aalok
authors.initials: A
authors.lastname: Khole
authors.affiliation: Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India.
authors.forename: Avinash
authors.initials: A
authors.lastname: Gaikwad
authors.affiliation: Department of Reproductive Endocrinology & Infertility, National Institute for Research in Reproductive Health (ICMR), Mumbai, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Kadam
authors.affiliation: Lilavati Hospital & Research Center, Mumbai, India.
authors.forename: Rupin
authors.initials: R
authors.lastname: Shah
authors.affiliation: Sudha Hospital, Erode, India.
authors.forename: Rangaswamy
authors.initials: R
authors.lastname: Kumaraswamy
authors.affiliation: Department of Gamete Immunobiology, National Institute for Research in Reproductive Health (ICMR), Mumbai, India.
authors.forename: Vrinda
authors.initials: V
authors.lastname: Khole
mesh_terms: D000328:Adult; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D007674:Kidney Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014649:Vas Deferens / Q000002:abnormalities* / Q000473:pathology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator