Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility

Reproductive BioMedicine Online

Volumn 17, Issue 1, 2008, Pages 27-35

  Tamburino, Lucia ^a   Guglielmino, A ^a   Venti, E ^a   Chamayou, S ^a  

^a Unità di Medicina della Riproduzione Fondazione HERA   (Italy)

Author keywords

CFTR polymorphisms; Cystic fibrosis transmembrane conductance regulator; Male infertility

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; AZOOSPERMIA; CHROMOSOME; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; INTRON; IVS8 TG12 LOCUS; IVS8 TN LOCUS; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MUTATION RATE; MUTATIONAL ANALYSIS; OLIGOSPERMIA;

EID: 48249153394     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60289-1     Document Type: Article

References (55)

1. Aionuma LC, Ng EH, Chan HC 2002 New insights into the mechanisms underlying hydrosalpinx fluid formation and its adverse effect on IVF outcome. Human Reproduction Update 8, 255-264.
2. Bombieri C, Pignatti PF 2001 Cystic fibrosis mutation testing in Italy. Genetic Testing 5, 229-233.
3. Bossi A, Casazza G, Padoan R, Milani S 2004 Assemblea Dei Direttori Dei Centri. What is the incidence of cystic fibrosis in Italy? Data from the National Registry (1988-2001). Human Biology 76, 455-467.
4. Boucher D, Creveaux I, Grizard G et al. 1999 Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme. Molecular Human Reproduction 5, 587-593.
5. Casals T, Bassas L, Egozcue S et al. 2000 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Human Reproduction 15, 1476-1483.
6. Cheung KH, Leung CT, Leung GP, Wong PY 2003 Synergistic effects of cystic fibrosis transmembrane conductance regulator and aquaporin-9 in the rat epididymis. Biology of Reproduction 68, 1505-1510.
7. Chillon M, Casals T, Mercier B et al. 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New England Journal of Medicine 332, 1475-1480.
8. Chu C-S, Trapnell BC, Curristin S et al. 1993 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genetics 3, 151-156.
9. Claustres M 2005 Molecular pathology of the CFTR locus in male infertility. Reproductive BioMedicine Online 10, 14-41.
10. Claustres M, Guittard C, Bozon T et al.2000 Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Human Mutation 16, 143-156.
11. Consortium for CF Genetic Analysis, Website. Available at http://www.genet.sickkids.on.ca/cftr/ accessed 31/01/08.
12. Costes B, Girodon E, Ghanem N et al. 1995 Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens. European Journal of Human Genetics 3, 285-293.
13. Cuppens H, Lin W, Jaspers M et al. 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. Journal of Clinical Investigation 101, 487-496.
14. Daudin M, Bieth E, Bujan L et al. 2000 Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations and implications for genetic counselling. Fertility and Sterility 74, 1164-74.
15. Dayangac D, Erdem H et al. 2004 Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Human Reproduction 19, 1094-1100.
16. Dohle GR, Halley DJJ, Van Hemel JO et al. 2002 Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Human Reproduction 17, 13-16.
17. Ferlin A, Raicu F, Gatta V et al. 2007 Male infertility: role of genetic background. Reproductive BioMedicine Online 14, 734-745
18. Foresta C, Garolla A, Bartoloni L et al. 2005 Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. Journal of Clinical Endocrinology and Metabolism 90, 152-156.
19. Groman JD, Hefferon TW, Casals T et al. 2004 Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. American Journal of Human Genetics 74, 176-179.
20. Hayslip CC, Hao E, Usala SJ 1997 The cystic fibrosis transmembrane regulator gene is expressed in the human endocervix throughout the menstrual cycle. Fertility and Sterility 67, 636-640.
21. Jakubiczka S, Bettecken TH, Stumm M et al. 1999 Frequency of CFTR mutations in males participating in an ICSI programme. Human Reproduction 14, 1833-1834.
22. Jarvi K, Zielenski J, Wilschanski M et al. 1995 Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 345, 1578.
23. Kuliev A, Verlinsky Y 2008 Preimplantation genetic diagnosis: technological advances to improve accuracy and range of applications. Reproductive BioMedicine Online 16, 532-538.
24. Larriba S, Bonache S, Sarquella J 2005 Molecular evaluation of CFTR sequence variants in male infertility of testicular origin. International Journal of Andrology 28, 284-290.
25. Larriba S, Bassas L, Egozcue S et al. 2001 Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biology of Reproduction 6, 394-400.
26. Larriba S, Bassas L, Gimenez J 1998 Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Human Molecular Genetics 7, 1739-1743.
27. Mak V, Zielenski J, Tsui LC et al. 2000 Cystic fibrosis gene mutations and infertile men with primary testicular failure. Human Reproduction 15, 436-439.
28. Malt V, Zielenski J, Tsui LC et al. 1999 Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. Journal of the American Medical Association 281, 2217-2224.
29. Mak V, Jarvi KA, Zielenski J et al. 1997 Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Human Molecular Genetics 6, 2099-2107.
30. Meschede D, Dworniczak B, Behre HM et al. 1997 CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. American Journal of Human Genetics 61, 1200-1202.
31. Mickle J, Milunsky A, Amos JA, Oates RD 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. Human Reproduction 10, 1728-1735.
32. Niksic M, Romano M, Buratti E et al. 1999 Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Human Molecular Genetics 8, 2339-2349.
33. Pallares-Ruiz N, Carles S, Des Georges M et al. 1999 Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Human Reproduction 14, 3035-3040.
34. Patrizio P, Salameh WA 1998 Expression of the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in normal and pathological adult human epididymis. Journal of Reproduction and Fertility Supplement 53, 261-270.
35. Quinzii C, Castellani C 2000 The cystic fibrosis transmembrane regulator gene and male infertility. Journal of Endocrinology Investigation 23, 684-689.
36. Rave-Harel N, Kerem E, Nissim-Rafinia M et al. 1997 The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. American Journal of Human Genetics 60, 87-94.
37. Ravnik-Glavac M, Svetina N, Zorn B et al. 2001 Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men. Genetic Testing 5, 243-247.
38. Renwick PJ, Trussler J, Ostad-Saffari E et al. 2006 Proof of principle and first cases using preimplantation genetic haplotyping - a paradigm shift for embryo diagnosis. Reproductive BioMedicine Online 13, 110-119.
39. Richards CS, Bradley LA, Amos J et al. 2002 Standards and guidelines for CFTR mutation testing. Genetics in Medicine 4, 379-391.
40. Robert F, Bey-Omar F, Rollet J et al. 2002 Relation between the anatomical genital phenotype and cystic fibrosis transmembrane conductance regulator gene mutations in the absence of the vas deferens. Fertility and Sterility 77, 889-896.
41. Rossi T, Grandoni F, Mazzilli F et al. 2004 High frequency of (TG)mTn variant tracts in the cystic fibrosis transmembrane conductance regulator gene in men with high semen viscosity. Fertility and Sterility 82, 1316-22.
42. Schulz S, Jakubiczka S, Kropf S et al. 2006 Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertility and Sterility 85, 135-138.
43. Stuhrmann M, Dork T 2000 CFTR gene mutations and male infertility. Andrologia 32, 71-83.
44. Stuppia L, Antonucci I, Binni F et al. 2005 Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. European Journal of Human Genetics 13, 959-964.
45. Teng H, Jorrisen M, Van Poppel et al. 1997 Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Human Molecular Genetics 6, 85-90.
46. Trezise AE, Buchwald M 1991 In vivo cell-specific expression of the cystic fibrosis traosmembrane conductance regulator. Nature 353, 434-437.
47. Trezise AE, Chambers JA, Wardle CJ et al. 1993a Expression of the cystic fibrosis gene in human foetal tissues. Human Molecular Genetics 2, 213-218.
48. Trezise AE, Linder CC, Grieger D et al. 1993b CFTR expression is regulated during both the cycle of the seminiferous epithelium and the oestrous cycle of rodents. Nature Genetics 3, 157-164.
49. Tuerlings JH, Mol B, Kremer JA et al. 1998 Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. Fertility and Sterility 69, 899-903.
50. Van Der Ven K, Messer L, Van Der Ven H et al. 1996 Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Human Reproduction 11, 513-517.
51. Welsh MJ, Tsui LC, Boat TF et al. 1995 Cystic fibrosis. In: Scriver CR, Beaud AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, vol. 3, pp. 3799-3876.
52. Wong PY 1998 CFTR gene and male fertility. Molecular Human Reproduction 4, 107-110.
53. World Health Organization 1999 WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th edn. Cambridge University Press, Cambridge, UK.
54. Wu CC, Alper OM, Lu JF et al. 2005 Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Human Reproduction 20, 2470-2475.
55. Zielenski J, Tsui LC 1995 Cystic fibrosis: genotypic and phenotypic variations. Annual Review of Genetics 29, 777-807.