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
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
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
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
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
Holsclaw DS, Perlmutter AD, Jockin H, Schwachman H (1971) Genital abnormalities in male patients with cystic fibrosis. J Urol 106:568–574
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
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
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
Olson JR, Weaver DK (1969) Congenital mesonephric defects in male infants with mucoviscidosis. J Clin Pathol 22:725–730
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
Author information
Authors and Affiliations
Corresponding author
Rights 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
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02267085