Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis ? Analyses of the CFTR gene in 67 patients

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR...

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Bibliographic Details
Published in:American journal of human genetics 1995, Vol.56 (1), p.272-277
Main Authors: MERCIER, B, VERLINGUE, C, LISSENS, W, SILBER, S. J, NOVELLI, G, BONDUELLE, M, AUDREZET, M. P, FEREC, C
Format: Article
Language:English
Subjects:
Alleles
Base Sequence
Biological and medical sciences
Cohort Studies
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
Epistasis, Genetic
Female
Gastroenterology. Liver. Pancreas. Abdomen
Heterozygote
Humans
Infertility, Male - genetics
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Malformations
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Pedigree
Point Mutation
Vas Deferens - abnormalities
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Summary:Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier (delta F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD.
ISSN:0002-9297
1537-6605