{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T21:51:09Z","timestamp":1757541069761,"version":"3.41.0"},"reference-count":18,"publisher":"Scientific Scholar","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,5]]},"abstract":"\n Background & objectives:<\/jats:title>\n The role of cystic fibrosis transmembrane conductance regulator (CFTR<\/jats:italic>) 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<\/jats:italic> gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Direct DNA sequencing of CFTR<\/jats:italic> gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n Three potential regulatory CFTR<\/jats:italic> 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<\/jats:italic> 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<\/jats:italic> gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR<\/jats:italic> 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<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR<\/jats:italic> gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR<\/jats:italic> 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.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0971-5916.187110","type":"journal-article","created":{"date-parts":[[2016,8,4]],"date-time":"2016-08-04T04:42:37Z","timestamp":1470285757000},"page":"616-623","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":17,"title":["Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies"],"prefix":"10.25259","volume":"143","author":[{"given":"Rahul","family":"Gajbhiye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaushiki","family":"Kadam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aalok","family":"Khole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avinash","family":"Gaikwad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema","family":"Kadam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rupin","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rangaswamy","family":"Kumaraswamy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vrinda","family":"Khole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-12-20241212","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/aja.2012.43","article-title":"The 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congenital bilateral absence of the vas deferens","volume":"20","author":"Wu","year":"2005","journal-title":"Hum Reprod"},{"key":"R5-12-20241212","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S1569-1993(02)00144-3","article-title":"CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens","volume":"2","author":"Anzai","year":"2003","journal-title":"J Cyst Fibros"},{"key":"R6-12-20241212","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/humu.20064","article-title":"The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles","volume":"24","author":"Steiner","year":"2004","journal-title":"Hum Mutat"},{"key":"R7-12-20241212","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1093\/humrep\/den500","article-title":"Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens","volume":"24","author":"Sharma","year":"2009","journal-title":"Hum Reprod"},{"key":"R8-12-20241212","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1093\/molehr\/gau047","article-title":"Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers","volume":"20","author":"Sharma","year":"2014","journal-title":"Mol Hum Reprod"},{"key":"R10-12-20241212","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1097\/MPA.0b013e3181bab679","article-title":"Independent contribution of common CFTR variants to chronic pancreatitis","volume":"39","author":"Cid","year":"2010","journal-title":"Pancreas"},{"key":"R11-12-20241212","first-page":"469","article-title":"Association of CFTR gene mutation with bronchial asthma","volume":"135","author":"Maurya","year":"2012","journal-title":"Indian J Med 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cystic fibrosis transmembrane conductance regulator genes: The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation","volume":"101","author":"Cuppens","year":"1998","journal-title":"J Clin Invest"},{"key":"R19-12-20241212","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S1472-6483(10)60801-2","article-title":"Molecular pathology of the CFTR locus in male infertility","volume":"10","author":"Claustres","year":"2005","journal-title":"Reprod Biomed Online"}],"container-title":["Indian Journal of Medical 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