Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens

Molecular Human Reproduction

Volumn 5, Issue 1, 1999, Pages 10-13

  Lissens, Willy ^a   Mahmoud, Kamal Zaki ^b   El Gindi, Essam ^b   Abdel Sattar, Ahmad ^b   Seneca, Sara ^a   Van Steirteghem, André ^c   Liebaers, Inge ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b Kamal Shaeer Hospital   (Egypt)

^c CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

Author keywords

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

Indexed keywords

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AZOOSPERMIA; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; GENE STRUCTURE; GENITAL MALFORMATION; HUMAN; MALE; PRIORITY JOURNAL; VAS DEFERENS;

ADULT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EGYPT; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; HUMANS; INFERTILITY, MALE; INTRONS; KIDNEY; MALE; MUTATION; VAS DEFERENS;

EID: 0032954908     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/5.1.10     Document Type: Article

References (36)

1. Augarten, A., Yahav, Y., Kerem, B.-S. et al. (1994) Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet, 344, 1473-1474.
2. Casals, T., Bassas, L., Ruiz-Romero, J. et al. (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.
3. Chillon, M., Casals, T., Mercier, B. et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med., 332, 1475-1480.
4. Chu, C.-S., Trapnell, B.C., Murtagh, J.J. et al. (1991) Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J., 10, 1355-1363.
5. Costes, B., Girodon, E., Ghanem, N. et al. (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur. J. Hum. Genet., 3, 285-293.
6. Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum. Mutat., 4, 167-177. (http:// www.genet.sickkids.on.ca/cftr).
7. Dean, M. and Santis, G. (1994) Heterogeneity in the severity of cystic fibrosis and the role of the CFTR gene mutations. Hum. Genet., 93, 364-368.
8. De Braekeleer, M. and Férec, C. (1996) Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol. Hum. Reprod., 2, 669-677.
9. Delaney, S.J., Rich, D.P., Thomson, S.A. et al. (1993) Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nature Genet., 4, 426-431.
10. Dörk, T., Dworniczak, B., Aulehla-Scholz, C. et al. (1997) Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum. Genet., 100, 365-377.
11. Dubin, L. and Amelar, R.D. (1971) Etiologic factors in 1294 consecutive cases of male infertility. Fertil. Steril., 22, 469-474.
12. Dumur, V., Gervais, R., Rigot, J.-M. et al. (1995) Congenital bilateral absence of vas deferens in absence of cystic fibrosis. Lancet, 345, 200-201.
13. Dumur, V., Gervais, R., Rigot, J.-M. et al. (1996) Congenital bilateral absence of vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. Hum. Genet., 97, 7-10.
14. Estivill, X. (1996) Complexity in a monogenic disease. Nature Genet., 12, 348-350.
15. Estivill, X., Bancells, C., Ramos, C. et al. (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum. Mutat., 10, 135-154.
16. Ferrari, M. and Cremonesi, L. (1996) Genotype-phenotype correlation in cystic fibrosis patients. Ann. Biol. Clin., 54, 235-241.
17. Hyde, S.C., Emsley, P., Hartshorn, M.J. et al. (1990) Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature, 346, 362-365.
18. Jarvi, K., Zielenski, J., Wilschanski, M. et al. (1995) Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet, 345, 1578.
19. Kerem, B. and Kerem, E. (1996a) The molecular basis for disease variability in cystic fibrosis. Eur. J. Hum. Genet., 4, 65-73.
20. Kerem, E. and Kerem, B. (1996b) Genotype-phenotype correlations in cystic fibrosis. Pediatr. Pulmonol., 22, 387-395.
21. Kerem, B.-S., Rommens, J.M., Buchanan, J.A. et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073-1080.
22. Kerem, E., Rave-Harel, N., Augarten, A. et al. (1997) A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am. J. Respir. Crit. Care Med., 155, 1914-1920.
23. Lissens, W. and Liebaers, I. (1997) The genetics of male infertility in relation to cystic fibrosis. Baillière's Clin. Obstet. Gynaecol., 11, 797-824.
24. Lissens, W., Mercier, B., Tournaye, H. et al. (1996) Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. Hum. Reprod., 11 (Suppl. 4), 55-80.
25. Mercier, B., Verlingue, C., Lissens, W. et al. (1995) Is congenital bilateral absence of the vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients. Am. J. Hum. Genet., 56, 272-277.
26. Pignatti, P.F. (1994) Cystic Fibrosis. In Humpries, S.E. and Malcolm, S. (eds), From Genotype to Phenotype. BIOS Scientific Publishers Ltd, Oxford, pp. 19-48.
27. Rave-Harel, N., Magdar, I., Goshen, R. et al. (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am. J. Hum. Genet., 56, 1359-1366.
28. Rave-Harel, N., Kerem, E., Nissim-Rafinia, M. et al. (1997) The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am. J. Hum. Genet., 60, 87-94.
29. Riordan, J.R., Rommens, J.M., Kerem, B.-S. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterisation of complementary DNA. Science, 245, 1066-1073.
30. Rommens, J.M., Iannuzzi, M.C., Kerem, B.-S. et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245, 1059-1065.
31. Strong, T.V., Wilkinson, D.J., Mansoura, M.K. et al. (1993) Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance. Hum. Mol. Genet., 2, 225-230.
32. Teng, H., Jorissen, M., Van Poppel, H. et al. (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum. Mol. Genet., 6, 85-90.
33. Welsh, M.J., Tsui, L.-C., Boat, T.F. and Beaudet, A.L. (1995) Cystic fibrosis. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill, New York, pp. 3799-3876.
34. Zielenski, J. and Tsui, L.-C. (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet., 29, 777-807.
35. Zielenski, J., Rozmahel, R., Bozon, D. et al. (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics, 10, 214-228.
36. Zielenski, J., Patrizio, P., Corey, M. et al. (1995) CFTR gene variant for patients with congenital absence of vas deferens. Am. J. Hum. Genet., 57, 958-960.