Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities

Human Reproduction

Volumn 11, Issue SUPPL. 4, 1996, Pages 55-78

  Lissens, Willy ^a   Mercier, Bernard ^b   Tournaye, Herman ^c   Bonduelle, Maryse ^a   Férec, Claude ^b   Seneca, Sara ^a   Devroey, Paul ^c   Silber, Sherman ^d   Van Steirteghem, André ^c   Liebaers, Inge ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b ETSBO   (France)

^c CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

^d ST LUKE S HOSPITAL   (United States)

Author keywords

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

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; CONFERENCE PAPER; CYSTIC FIBROSIS; DNA SEQUENCE; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; PHENOTYPE; URINARY TRACT MALFORMATION; VAS DEFERENS; YOUNG SYNDROME;

EID: 3342917400     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/11.suppl_4.55     Document Type: Article

References (89)

1. Abeliovich, D., Pashut Lavon, I., Lerer, I. et al. (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet., 51, 951-956.
2. Anguiano, A., Oates, R.D., Amos, J.A. et al. (1992) Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. J. Am. Med. Assoc., 267, 1794-1797.
3. 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.
4. Bienvenu, T., Beljord, C., Adjiman, M. and Kaplan, J.C. (1993) Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. J. Med. Genet., 30, 797.
5. Bienvenu, T., Lacronique, V., Raymondjean, M. et al. (1995) Three novel sequence variations in the 5′ upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect. Hum. Genet., 95, 698-702.
6. Bremer, S., Hoof, T., Wilke, M. et al. (1992) Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic fibrosis transmembrane conductance regulator mRNA transcripts in human epithelia. Eur. J. Biochem., 206, 137-149.
7. Brock, D.J.H. (1995) Heterozygote screening for cystic fibrosis. Eur. J. Hum. Genet., 3, 2-13.
8. 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.
9. Chillon, M., Casals, T., Giménez, J. et al. (1994) Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum. Genet., 93, 447-451.
10. Chillon, M., Casals, T., Mercier, B. et al. (1995a) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med., 332, 1475-1480.
11. Chillon, M., Dörk, T., Casals, T. et al. (1995b) A novel splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA → G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am. J. Hum. Genet., 56, 623-629.
12. 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.
13. Chu, C.-S., Trapnell, B.C., Curristin, S.M. et al. (1992) Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelia mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J. Clin. Invest., 90, 785-790.
14. Chu, C.-S., Trapnell, B.C., Curristin, S. et al. (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet., 3, 151-156.
15. n 5T allele in men with congenital bilateral absence of the vas deferens. Eur. J. Hum. Genet., 3, 285-293.
16. Culard, J.-F., Desgeorges, M., Costa, P. et al. (1994) Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum. Genet., 93, 467-470.
17. Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum. Mutat., 4, 167-177.
18. Cystic Fibrosis Genotype-Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. N. Engl. J. Med., 329, 1308-1313.
19. Dean, M. and Santis, G. (1994) Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum. Genet., 93, 364-368.
20. 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.
21. Donohue, R.E. and Fauver, H.E. (1989) Unilateral absence of the vas deferens. A useful clinical sign. J. Am. Med. Assoc., 261, 1180-1182.
22. Dubin, L. and Amelar, R.D. (1971) Etiologic factors in 1294 consecutive cases of male infertility. Fertil. Steril., 22, 469-474.
23. Dumur, V., Gervais, R., Rigot, J.-M. et al. (1990) Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens, Lancet, 336, 512.
24. 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.
25. 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.
26. Durieu, I., Bey-Omar, F., Rollet, J. et al. (1995) Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine, 74, 42-47.
27. Eiberg, H., Mohr, J., Schmiegelow, K. et al. (1985) Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin. Genet., 28, 265-271.
28. Férec, C., Audrézet, M.P., Mercier, B. et al. (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet., 1, 188-191.
29. Gervais, R., Dumur, V., Rigot, J.-M. et al. (1993) High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N. Engl. J. Med., 328, 446-447.
30. Grompe, M. (1993) The rapid detection of unknown mutations in nucleic acids. Nature Genet., 5, 111-117.
31. Handelsman, D.J., Conway, A.J., Boylan, L.M. and Turtle, J.R. (1984) Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. N. Engl. J. Med., 310, 3-9.
32. Heaton, N.D. and Pryor, J.P. (1990) Vasa aplasia and cystic fibrosis. Br. J. Urol., 66, 538-540.
33. Higgins, C.F. (1995) The ABC of channel regulation. Cell, 82, 693-696.
34. Highsmith, W.E., Burch, L.H., Zhou, Z. et al. (1994) A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med., 331, 974-980.
35. Hirsh, A., Williams, C. and Williamson, B. (1993) Young's syndrome and cystic fibrosis mutation ΔF508. N. Engl. J. Med., 342, 118.
36. Holsclaw, D.S., Lober, B., Jockin, H. and Schwachman, H. (1971) Genital abnormalities in male patients with cystic fibrosis. J. Urol., 106, 568-574.
37. 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.
38. Jarvi, K., Zielenski, J., Wilschanski, M. et al. (1995) Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet, 345, 1578.
39. Jézéquel, P., Dorval, I., Fergelot, P. et al. (1995) Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin. Chem., 41, 833-835.
40. Kerem, B.-S., Rommens, J.M., Buchanan, J.A. et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073-1080.
41. Kiesewetter, S., Macek, M., Davis, C. et al. (1993) A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet., 5, 274-278.
42. Knowlton, R.G., Cohen-Haguenauer, O., Van Cong, N. et al. (1985) A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature, 318, 380-382.
43. Landing, B.H., Wells, T.R. and Wang, C.-I. (1969) Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch. Pathol., 88, 569-580.
44. Le Lannou, D., Jézéquel, P., Blayau, M. et al. (1995) Obstructive azoospermia with agenesis of the vas deferens or with brochiectasia (Young's syndrome): a genetic approach. Hum. Repmd., 10, 338-341.
45. Liu, J., Lissens, W., Silber, S.J. et al. (1994) Birth after preimplantation diagnosis of the cystic fibrosis ΔF508 mutation by the polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. J. Am. Med. Assoc., 272, 1858-1860.
46. McKusick, V.A. (1994) Congenital bilateral aplasia of the vas deferens (277180). In Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. 11th edn, The Johns Hopkins University Press, pp. 2255-2256.
47. Mercier, B., Raguénès, O., Estivill, X. et al. (1994) Complete detection of mutations in cystic fibrosis patients of native American origin. Hum. Genet., 94, 629-632.
48. 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.
49. Meschede, D., Horst, J., Williams, C. and Williamson, R. (1994) Genetic testing and counselling for congenital bilateral absence of the vas deferens. Lancet, 343, 1566-1567.
50. Mickle, J., Milunsky, A., Amos, J.A. and Oates, R.D. (1995) Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum. Reprod., 10, 1728-1735.
51. Morral, N., Nunes, V., Casals, T., et al. (1993) Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum. Mol. Genet., 2, 677-681.
52. Oates, R.D. and Amos, J.A. (1994) The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J. Androl., 15, 1-9.
53. Osborne, L.R., Lynch, M., Middleton, P.G. et al. (1993) Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum. Mol. Genet., 2, 1605-1609.
54. Palermo, G., Joris, H., Devroey, P. and Van Steirteghem, A.C. (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet, 342, 17-18.
55. Patrizio, P. and Zielenski, J. (1996) Congenital absence of the vas deferens: a mild form of cystic fibrosis. Mol. Med. Today, 2, 24-31.
56. Patrizio, P., Silber, S.J., Ord, T., Balmaceda, J.P. and Asch, R.H. (1988) Two births after microsurgical sperm aspiration in congenital absence of vas deferens. Lancet, ii, 1364.
57. Patrizio, P., Asch, R., Handelin, B. and Silber, S.J. (1993a) Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum. Reprod., 8, 215-220.
58. Patrizio, P., Ord, T., Silber, S.J. and Asch, R.H. (1993b) Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens. Hum. Reprod., 8, 1259-1263.
59. Pignatti, P.F. (1994) Cystic fibrosis. In Humphries, S.E. and Malcolm, S. (eds), From Genotype to Phenotype. BIOS Scientific Publishers Ltd, Oxford, UK, pp. 19-48.
60. Pignatti, P.F., Bombieri, C., Marigo, C. et al. (1995) Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum. Mol. Genet., 4, 635-639.
61. Rave-Harel, N., Madgar, 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.
62. Rigot, J.-M, Lafitte, J.-J., Dumur, V. et al. (1991) Cystic fibrosis and congenital absence of the vas deferens. N. Engl J. Med., 325, 64-65.
63. Riordan, J.R., Rommens, J.M., Kerem, B.-S. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science, 245, 1066-1073.
64. Rommens, J.M., Iannuzi, M.C., Kerem, B.-C. et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245, 1059-1065.
65. Saiki, R.K., Scharf, S., Faloona, F. et al. (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science, 230, 1350-1354.
66. Scriver, C.R. and Fujiwara, T.M. (1992) Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am. J. Hum. Genet., 51, 943-950.
67. Silber, S.J., Ord, T., Borrero, C. et al. (1987) New treatment for infertility due to congenital absence of vas deferens. Lancet, ii, 850-851.
68. Silber, S.J., Asch, R., Balmaceda, J. et al. (1988) Pregnancy with sperm aspiration from the proximal head of the epididymis: a new treatment for congenital absence of the vas deferens. Fertil Steril., 50, 525-528.
69. Silber, S.J., Ord, T., Balmaceda, J. et al. (1990) Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm. N. Engl. J. Med., 323, 1788-1792.
70. Silber, S.J., Nagy, Z.P., Liu, J. et al. (1994) Conventional in-vitro fertilization versus intracytoplasmic sperm injection for patients requiring microsurgical sperm aspiration. Hum. Reprod., 9, 1705-1709.
71. Silber, S.J., Nagy, Z., Liu, J. et al. (1995) The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility. Hum. Reprod., 10, 2031-2043.
72. Slomski, R., Schloesser, M., Berg, L. et al. (1992) Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum. Genet., 89, 615-619.
73. 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.
74. ten Kate, L.P. (1990) Carrier screening for cystic fibrosis and other autosomal recessive diseases. Am. J. Hum. Genet., 47, 359-361.
75. Tizzano, E.F., Silver, M.M., Chitayat, D. et al. (1994) Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis. Am. J. Pathol, 144, 906-914.
76. Tournaye, H., Devroey, P., Liu, J. et al. (1994) 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., 61, 1045-1051.
77. Trezise, A.E., Linder, C.C., Grieger, D. et al. (1993) CFTR expression is regulated during both the cycle of the seminiferous epithelium and the oestrous cycle of rodents. Nature Genet., 3, 157-164.
78. Tsui, L.-C., Buchwald, M., Barker, D. et al. (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science, 230, 1054-1057.
79. Van Steirteghem, A.C., Liu, J., Joris, H. et al. (1993a) Higher success rate by intracytoplasmic sperm injection than by subzonal insemination. Report of a second series of 300 consecutive treatment cycles. Hum. Reprod., 8, 1055-1060.
80. Van Steirteghem, A.C., Nagy, Z., Joris, H. et al. (1993b) High fertilization and implantation rates after intracytoplasmic sperm injection. Hum. Reprod., 8, 1061-1066.
81. Wainwright, B.J., Scambler, P.J., Schmidtke, J. et al. (1985) Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature, 318, 384-385.
82. Welsh, M.J. and Smith, A.E. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell, 73, 1251-1254.
83. 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 Inc., New York, NY, USA, pp. 3799-3876.
84. White, R., Woodward, M., Leppert, M. et al. (1985) A closely linked genetic marker for cystic fibrosis. Nature, 318, 382-384.
85. Williamson, R. (1993) Universal community carrier screening for cystic fibrosis. Nature Genet., 3, 195-201.
86. Wilton, L.J., Teichtahl, H., Temple-Smith, PD. et al. (1991) Young's syndrome (obstructive azoospermia and chronic sinobrochial infection): a quantitative study of axonermal ultrastructure and function. Fertil. Steril., 55, 144-151.
87. Zielenski, J. and Tsui, L.-C. (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet., 29, 777-807.
88. Zielenski, J., Fujiwara, M., Markiewicz, D. et al. (1993) Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am. J. Hum. Genet., 52, 609-615.
89. 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.