Skip to main content
Log in

Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

  • Letter to the Editors
  • Published:
Human Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A (1992) Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 267:1794–1797

    Google Scholar 

  • Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Navaez H, Nunes V, Estivill X (1995) Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 95:205–211

    Google Scholar 

  • Costes B, Fanen P, Goossens M, Ghanem N (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 2:185–191

    Google Scholar 

  • Culard JF, Desgeorges M, Costa P, Laussel M, Razaktzara G, Navratil H, Demaille J, Claustres M (1994) Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital aplasia of epididymis or vas deferens. Hum Genet 93:467–470

    Google Scholar 

  • Dumur V, Gervais R, Rigot JM, Laffite JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P (1990) Abnormal distribution of CF AF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 336:512

    Google Scholar 

  • Holsclaw DS, Perlmutter AD, Jockin H, Schwachman H (1971) Genital abnormalities in male patients with cystic fibrosis. J Urol 106:568–574

    Google Scholar 

  • Jézéquel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M (1995) Structural analysis of CFTR gene in the congenital bilateral absence of the vas deferens. Clin Chem 41:833–835

    Google Scholar 

  • Kaplan E, Swachman H, Perlmutter AD, Rule A, Khaw KT, Holsclaw DS (1968) Reproductive failure in males with cystic fibrosis. N Engl J Med 279:65–69

    Google Scholar 

  • Le Lannou D, Jézéquel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Le Gall JY (1995) Obstructive azoospermia with agenesis of vas deferens or with bronchectasia (Young's syndrome): a genetic approach. Hum Reprod 10:338–341

    Google Scholar 

  • Olson JR, Weaver DK (1969) Congenital mesonephric defects in male infants with mucoviscidosis. J Clin Pathol 22:725–730

    Google Scholar 

  • Rigot JM, Laffite JJ, Dumur V, Radj G, Manouvrier S, Biserte J, Mazeman E, Roussel P (1991) Cystic fibrosis and congenital absence of the vas deferens. N Engl J Med 325:64–65

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to P. Jézéquel.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Jézéquel, P., Chauvel, B., Le Treut, A. et al. Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype. Hum Genet 97, 548–549 (1996). https://doi.org/10.1007/BF02267085

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02267085

Keywords

Navigation