ArticleThe Indian journal of medical research2020
Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.
Article in The Indian journal of medical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 11 citations in OpenAlex.
- Novel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.International journal of molecular sciences · 2025Article
- Phenotypic impact of CFTR mutations on male reproductive tract agenesis in a Chinese cohort with congenital absence of the vas deferens.Journal of assisted reproduction and genetics · 2025Article
- [Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2024Article
- Current landscape of cystic fibrosis gene therapy.Frontiers in pharmacology · 2024Review
- Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens.Molecular genetics & genomic medicine · 2023Article
- Congenital Bilateral Absence of the Vas Deferens.Frontiers in genetics · 2022Review
- Article
- Genetics of Male Infertility - Present and Future: A Narrative Review.Journal of human reproductive sciencesReview
- Clinical Presentations and Semen Characteristics of Men Attending the Secondary Referral Infertility Clinic at Mumbai, India.Journal of human reproductive sciencesArticle
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9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
objectivesDue to limited information available on the frequency and spectrum of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens (CBAVD) in Indian population, it is difficult to provide accurate genetic counselling to couples. The present study was undertaken to investigate the spectrum and frequency of CFTR gene mutations in Indian men with CBAVD and to determine the female CF carrier status.
methodsDirect DNA sequencing of the CFTR gene was carried out in eighty CBAVD men, their female partners and fifty controls from the general population. Pathological significance of the identified novel CFTR gene variants was carried out using in silico tools. Appropriate genetic counselling was provided to the couples prior to intracytoplasmic sperm injection (ICSI).
resultsA significant association was observed for CFTR gene variants in Indian CBAVD men versus controls (odds ratio: 12.1; 95% confidence interval: 4.8-30.4; P<0.0001). A total of 20 CFTR gene variants were identified in 53 CBAVD men. Eight novel missense CFTR gene variants (L214V, A238P, E379V, L578I, F587L, L926W, R1325K and R1453Q); two novel splice-site gene variants (c.1-30C>G and IVS1+2T>G) and ten previously reported mutations (R75Q, c.1210-12[5], F508del, A309G, R334W, I444T, R668C, R709X, A1285V and Q1352H) were detected in CBAVD men. The novel and reported CFTR gene mutations were L926W (2.5%, P=0.26), R1453Q (2.5%, P=0.26), F508del (8.75%, P=0.03) and c.1210-12[5] (42.5%, P=0.002). A total of 13 (16.2%) female partners were found to be a CF carrier. Nine couples had a risk of transmitting mutant CFTR allele to the offspring. INTERPRETATION &
conclusionsThe heterogeneous spectrum of CFTR gene in Indian population suggests the necessity of screening CBAVD men and female partners for accurate genetic counselling prior to undergoing ICSI.
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