The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland

British Journal of Urology

Volumn 79, Issue 1, 1997, Pages 74-77

  Donat, R ^a   Mcneill, A S ^a   Fitzpatrick, D R ^a   Hargreave, T B ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Congenital bilateral absence of the vas deferens; Cystic fibrosis; Male infertility

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ARTICLE; CHROMOSOME 7; CLINICAL ARTICLE; CYSTIC FIBROSIS; GENE MUTATION; GENETIC COUNSELING; HUMAN; INCIDENCE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNITED KINGDOM; VAS DEFERENS;

EID: 0031397371     PISSN: 00071331     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1464-410x.1997.30816.x     Document Type: Article

References (29)

1. WHO 1987. Towards more objectivity in the diagnosis and management of male infertility. Results of a World Health Organisation Multi Centre Study. Int J Androl 1987; Suppl 7
2. Anguiano A. Oates RD, Amos JA et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 1992; 267: 1794-7
3. Dumur V, Gervais R, Rigot J-M et al. Abnormal distribution of CF Delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990: 336: 512
4. Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 1994: 15: 1-8
5. Axton RA, Brock DJH. A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. Human Mutation 1995; 5: 260-2
6. Boat TF, Welsh MJ, Beaudet al. Cystic fibrosis. In Scriver CR, Beaudet al. Sly WS, Valle D eds, The Metabolic Basis of Inherited Disease. New York. McGraw-Hill: 1989: 2649-80
7. Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complimentary DNA. Science 1989; 245: 1059-65
8. Donohue RE, Fauver HE, Unilateral absence of the vas deferens: a useful clinical sign. JAMA 1989; 261: 1180-2
9. Augarten A, Yahav Y, Kerem BS et al. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 1994; 344: 1473-4
10. Tournaye H. Nagy Z, Devroey P. Lissens W, Liu J. van Steirteghem A. Microsurgical epididymal sperm aspiration and intracytoplasmic sperm injection: a new effective approach to infertility as a result of congenital bilateral absence of the vas deferens. Fertil Steril 1994; 61: 1045-51
11. Liu J, Lissens W. Silber SJ, Devroey P. Liebaers I, van Steirteghem A. Birth after preimplantation diagnosis of the cystic fibrosis Delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. JAMA 1994: 272: 1858-60
12. Gervais R. Dumur V, Rigot J-M et al. High frequency of the R117H mutation in patients with congenital absence of the vas deferens. N Engl J Med 1993; 328: 446-7
13. 3 Rigot J-M. Lafitte J-J, Dumur V et al. Cystic fibrosis and congenital absence of the vas deferens. N Engl J Med 1991; 325: 64-5
14. Durieux I, Bey-Omar F, Rollet J et al. Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine 1995; 74: 42-7
15. 5 Culard J-F, Desgeorges M. Costa P et al. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet 1994; 93: 467-70
16. Culard J-F, Desgeorges M, Romey M-C, Malzac P. Demaille J, Claustres M. A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient. Hum Mol Genet 1994: 3: 369-70
17. Bienvenu T, Beldjord C. Adjiman M. Kaplan JC, Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. J Med Genet 1993; 30: 797
18. Meschede D, Eigel A, Horst J, Nieschlag E. Compound heterozygosity for the Delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens. Am J Hum Genet 1993; 53: 292-3
19. Rave-Harel N. Madgar I. Goshen R et al. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 1995; 56: 1359-66
20. Casals T, Bassas L, Ruiz-Romero J et al. 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 1995; 95: 205-11
21. Hirsh AV, Mills C. Bekir J. Dean N. Yovich JL, Tan SL. Factors influencing the outcome of in-vitro fertilization with epididymal spermatozoa in irreversible obstructive azoospermia. Human Reprod 1994; 9: 1710-6
22. Williams C. Mayall ES. Williamson R. A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens. J Med Genet 1993; 30: 973
23. Osborne LR. Lynch M. Middleton PG et al. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet 1993: 2: 1605-9
24. Patricio P. Ord T. Silber SJ, Asch RH, Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens. Human Reprod 1993: 8: 1259-63
25. Mercier B. Verlingue C. Lissens W et al. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients. Am J Hum Genet 1995: 56: 272-7
26. Tizzano EF, Chitayat D. Buchwald M. Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues. Hum Mol Genet 1993; 2: 219-24
27. Trezise AEO, Chambers JA, Wardle CJ, Gould S, Harris A. Expression of the cystic fibrosis gene in human fetal tissues. Hum Mol Genet 1993: 2: 213-8
28. Chillon M. Casals T. Mercier B et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-80
29. Silber SJ, Ord T, Balmaceda J. Patricio P. Asch RH. Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm. N Engl J Med 1990: 323: 1788-92