• PMID: 7513294
• Gene Name: CFTR
• Condition: Azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
• Association: This strategy allowed us to identify 11 DNA sequence alterations considered as CF-causing mutations and several variations. Despite this double analysis, only two patients out of eight with CBAVD could be demonstrated as compound heterozygotes for CF muta
• Population size: 12
• Population details: 12 unrelated infertile men with abnormalities of the vas deferens and/or epididymis
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermic men with congenital bilateral aplasia of epididymis or vas deferens

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens

Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M.

Several recent studies have demonstrated the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in healthy males with infertility caused by congenital absence of the vas deferens (CBAVD), previously recognized as an idiopathic genetic condition distinct from CF. In order to document further the genetic commonality of these two disorders, we undertook a double screening of the entire coding and flanking sequences of the CFTR gene, by using single-strand conformational polymorphism analysis and denaturing gradient gel electrophoresis in 12 unrelated infertile men with abnormalities of the vas deferens and/or epididymis. This strategy allowed us to identify 11 DNA sequence alterations considered as CF-causing mutations and several variations. Despite this double analysis, only two patients out of eight with CBAVD could be demonstrated as compound heterozygotes for CF mutations. FAU - Culard, J F AU - Culard JF AD - Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France. FAU - Desgeorges, M AU - Desgeorges M FAU - Costa, P AU - Costa P FAU - Laussel, M AU - Laussel M FAU - Razakatzara, G AU - Razakatzara G FAU - Navratil, H AU - Navratil H FAU - Demaille, J AU - Demaille J