ArticleBMC medical genetics2007
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Asian journal of andrology · 2025Pooled it
- Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.Molecular genetics & genomic medicine · 2024Article
- Pathogenic Variants and Genotypes of theInternational journal of molecular sciences · 2023Article
- CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.International journal of molecular sciences · 2023Article
- Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.Scientific reports · 2023Article
- Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.Journal of assisted reproduction and genetics · 2022Article
- Genetics of the congenital absence of the vas deferens.Human genetics · 2021Review
- Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.The Indian journal of medical research · 2020Article
- Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD.Molecular genetics & genomic medicine · 2020Article
- Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.Andrology · 2018Review
- Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Journal of human genetics · 2016Article
- Physical deformities relevant to male infertility.Nature reviews. Urology · 2012Review
- Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.Fertility and sterility · 2010Article
- A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.European journal of human genetics : EJHG · 2009Article
- WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.The Journal of molecular diagnostics : JMD · 2008Article
- Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.The Journal of molecular diagnostics : JMD · 2008Article
- Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.The Journal of molecular diagnostics : JMD · 2007Article
- Azoospermia: vasal agenesis.Asian journal of andrologyArticle
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8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBy performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7%) males with isolated congenital bilateral absence of the vas deferens (CBAVD). Conventional PCR-based methods of mutation analysis do not detect gross DNA lesions. In this study, we looked for large rearrangements within the whole CFTR locus in the 32 CBAVD patients with only one or no mutation.
methodsWe developed a semi-quantitative fluorescent PCR assay (SQF-PCR), which relies on the comparison of the fluorescent profiles of multiplex PCR fragments obtained from different DNA samples. We confirmed the gross alterations by junction fragment amplification and identified their breakpoints by direct sequencing.
resultsWe detected two large genomic heterozygous deletions, one encompassing exon 2 (c.54-5811_c.164+2186del8108ins182) [or CFTRdele2], the other removing exons 22 to 24 (c.3964-3890_c.4443+3143del9454ins5) [or CFTRdele 22_24], in two males carrying a typical CBAVD mutation on the other parental CFTR allele. We present the first bioinformatic tool for exon phasing of the CFTR gene, which can help to rename the exons and the nomenclature of small mutations according to international recommendations and to predict the consequence of large rearrangements on the open reading frame.
conclusionIdentification of large rearrangements further expands the CFTR mutational spectrum in CBAVD and should now be systematically investigated. We have designed a simple test to specifically detect the presence or absence of the two rearrangements identified in this study.
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