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

B. Mercier, C. Verlingue, W. Lissens, S. J. Silber, G. Novelli, N. Bonduelle, M. P. Audrezet, C. Ferec

Research output: Contribution to journalArticle

Abstract

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 (ΔF508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD.

Original languageEnglish
Pages (from-to)272-277
Number of pages6
JournalAmerican Journal of Human Genetics
Volume56
Issue number1
Publication statusPublished - 1995

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Cystic Fibrosis Transmembrane Conductance Regulator
Regulator Genes
Cystic Fibrosis
Alleles
Phenotype
Mutation
Missense Mutation
Congenital bilateral aplasia of vas deferens
Infertility
Haplotypes
Siblings
Chromosomes
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Mercier, B., Verlingue, C., Lissens, W., Silber, S. J., Novelli, G., Bonduelle, N., ... Ferec, C. (1995). Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. American Journal of Human Genetics, 56(1), 272-277.

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. / Mercier, B.; Verlingue, C.; Lissens, W.; Silber, S. J.; Novelli, G.; Bonduelle, N.; Audrezet, M. P.; Ferec, C.

In: American Journal of Human Genetics, Vol. 56, No. 1, 1995, p. 272-277.

Research output: Contribution to journalArticle

Mercier, B, Verlingue, C, Lissens, W, Silber, SJ, Novelli, G, Bonduelle, N, Audrezet, MP & Ferec, C 1995, 'Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients', American Journal of Human Genetics, vol. 56, no. 1, pp. 272-277.
Mercier, B. ; Verlingue, C. ; Lissens, W. ; Silber, S. J. ; Novelli, G. ; Bonduelle, N. ; Audrezet, M. P. ; Ferec, C. / Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. In: American Journal of Human Genetics. 1995 ; Vol. 56, No. 1. pp. 272-277.
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