Novel cause of hereditary obstructive azoospermia: A T2 allele in the CFTR gene

Reproductive BioMedicine Online

Volumn 18, Issue 3, 2009, Pages 327-332

  Radpour, Ramin ^a,b   Taherzadeh Fard, Elahe ^c   Gourabi, Hamid ^b   Aslani, Sahar ^d   Dizaj, Ahmad Vosough ^b   Aslani, Ali ^d  

^a UNIVERSITY OF BASEL   (Switzerland)

^b ROYAN INSTITUTE FOR REPRODUCTIVE BIOMEDICINE   (Iran)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d Faculty of Engineering   (Iran)

Author keywords

CBAVD; CFTR; Male infertility; Obstructive azoospermia; Vas deferens

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; AZOOSPERMIA; CASE REPORT; CHROMOSOME; CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS; DISEASE SEVERITY; EPIDIDYMIS; EPITHELIUM CELL; EXON; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC REGULATION; HAPLOTYPE; HEREDITARY OBSTRUCTIVE AZOOSPERMIA; HETEROZYGOTE; HUMAN; MALE; MALE GENITAL TRACT MALFORMATION; VAS DEFERENS;

EID: 63249131946     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60089-2     Document Type: Article

References (21)

1. Beaudet AL, Tsui LC 1993 A suggested nomenclature for designating mutations. Human Mutation 2, 245-248.
2. Chu CS, 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.
3. Claustres M, Guittard C, Bozon D 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.
4. 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. European Journal of Human Genetics 3, 285-293.
5. 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.
6. Cystic Fibrosis Mutation Database 2007 http://www.genet.sickkids.on.ca/ cftr/ [accessed 15 January 2009].
7. den Dunnen JT, Antonarakis SE 2000 Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation 15, 7-12. (See also http://www.hgvs.org/mutnomen/ [accessed 15 January 2009].)
8. Disset A, Michot C, Harris A et al. 2005 A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with congenital bilateral absence of vas deferens (CBAVD). Human Mutation 25, 72-81.
9. Dork T, Dworniczak B, Aulehla-Scholz C et al. 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Human Genetics 100, 365-377.
10. 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 Genetic. 74, 176-179.
11. Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR 2002 Atypical 50 splice sites cause CFTR exon 9 to be vulnerable to skipping. American Journal of Human Genetics 71, 294-303.
12. Kiesewetter S, Macek M, Davis C et al. 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genetics 5, 274-278.
13. Niksic M, Romano M, Buratti E et al. 1999 Functional analysis of cisacting elements regulating the alternative splicing of human CFTR exon 9. Human Molecular Genetics 8, 2339-2349.
14. Pagani F, Buratti E, Stuani C et al. 2000 Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. Journal of Biological Chemistry 275, 21041-21047.
15. Radpour R, Gourabi H, Gilani MA, Dizaj AV 2008a Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. Journal of Andrology 29, 35-40.
16. Radpour R, Gourabi H, Dizaj AV et al. 2008b Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility. Journal of Andrology 29, 506-513.
17. n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. Journal of Andrology 28, 541-547.
18. Radpour R, Gilani MA, Gourabi H et al. 2006 Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. Molecular Human Reproduction 12, 469-473.
19. World Health Organization 1999 WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction (4th edition). Cambridge University Press, Cambridge, UK.
20. Zielenski J, Tsui LC 1995 Cystic fibrosis: genotypic and phenotypic variations. Annual Review of Genetics 29, 777-807.
21. 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.