Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa

Annals of Human Biology

Volumn 39, Issue 1, 2012, Pages 76-79

  Boudaya, M ^a   Fredj, S Hadj ^a   Haj, R Bel ^a   Khrouf, M ^b   Bouker, A ^c   Halouani, L ^d   Messaoud, T ^a  

^a CHILDREN S HOSPITAL   (Tunisia)

^b Centre Ibn Zohr Tunis   (Tunisia)

^c Clinique Ettaoufik Tunis   (Tunisia)

^d Clinique les Jasmins Tunis   (Tunisia)

Author keywords

CBAVD; CFTR mutations; DGGE; DHPLC; Direct sequencing

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ANATOMY; DISEASE INCIDENCE; DISEASE SEVERITY; GENE EXPRESSION; INFERTILITY; MALE; MOLECULAR ANALYSIS; MUTATION; POLYMORPHISM; PUBLIC HEALTH; REPRODUCTIVE BIOLOGY;

ADULT; AFRICA; ARTICLE; CONGENITAL MALFORMATION; GENETIC POLYMORPHISM; GENETICS; HUMAN; MALE; MUTATION; PHENOTYPE; UROGENITAL TRACT DISEASE; VAS DEFERENS;

ADULT; AFRICA, NORTHERN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MALE; MALE UROGENITAL DISEASES; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; VAS DEFERENS;

NORTH AFRICA;

EID: 83455201699     PISSN: 03014460     EISSN: 14645033     Source Type: Journal    
DOI: 10.3109/03014460.2011.642892     Document Type: Article

References (23)

1. Alonso M, Blanco A, Fernandez-Burriel M, Calleja J, Fernandez I, Sanz A, Valasco E, Telleria JJ. 2000. Poluvariant mutant genes: different haplotypes determining different alterations causing azoospermia. Gene Funct Dis 5-6:189-193.
2. Casals T, Bassas L, Egozcue S, Ramos MD, Gimenez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X. 2000. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of vas deferens. Hum Rep 15:1476-1483.
3. Chih Wu C, Alper OM, Feng Lu J, Ping Wang S, Guo L, Sun Chiang H, Jun L, Wong C. 2005. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Rep 20:2470-2475. (Pubitemid 41226406)
4. Claustres M, Altieri JP, Guittard C, Templin C, Chevalier Prost F, Des Georges M. 2004. Are p.1148T, p.R74W and p.D1270N cystic fibrosis causing mutation? BMC Med Genet 5:19.
5. Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, Des Georges M, Ferec C, Macek M, Pignatti PF, Schwartz M, Witt M, Schwarz M, Girodon E. 2009. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 17:51-65.
6. Desideri-Vaillant C, Creff J, Le Maréchal C, Maolic V, Férec C. 2004. Implication du gène CFTR dans la stérilité masculine associée à une absence de canaux déférents: Spectrum of CFTR mutations in congenital absence of the vas deferens. Immuno-Anal Biol Spéc 19: 343-350. (Pubitemid 40037586)
7. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M. 1992. Molecular characterisation ofcystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13:770-776.
8. Fontaine E, Jardin A. 2001. Anomalies des organes génitaux internes masculins et retentissement sur la fertilité. Prog Uro 11:729-732. (Pubitemid 33654141)
9. Fredj SH, Messaoud T, Templin C, Des Georges M, Fattoum S, Claustres M. 2009. Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisi. Genet test 13:1-5.
10. Gaillard D, Clavel C, Bessaci-Kabouya K, Abély M. 2009. Les formes atténuées de la mucoviscidose: génétique-suivi prolongé nécessaire Mild cystic fibrosis: Genetics-extending follow-up is necessary. Arch Ped 16:387-390.
11. G Noone P, R Knowles M. 2001. CFTR-Opathies: disease pheno-types associated with cystic fibrosis transmembrane regulator gene mutations. Resp Res 2:328-332. (Pubitemid 34189660)
12. Larriba S, Bassas L, Giminez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T, Testicular CFTR. 1998. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. J Hum Mol Genet 11:1739-1744. (Pubitemid 28464148)
13. Le Maréchal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C. 2001. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 108:290-298. (Pubitemid 32421740)
14. Loumi O, Ferec C, Mercier B, Creff J, Fercot B, Denine R, Grangaud JP. 2008. CFTR mutations in the Algerian population. J Cys Fib 7: 54-59.
15. Middendorf RL, Bruce RC, Eckless RD, Grone DL, Roemer SC, Sloniker GD, Steffens DL, Sutter SL, Brumbaugh JA, Patony G. 1992. DNA sequencing using a versatile infrared laser scanner/ electrophoresis apparatus. Electro 13:487-494.
16. Rabti I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costa C, Goossens M, Girodon E. 2007. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrange-ments enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Rep 22:1285-1291. (Pubitemid 47071653)
17. Radpour R, Gourabi H, Vosough Dizaj A, Holzgrev W, Yan Zhong X. 2008. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility J Androl 29:506-513.
18. Radpour R, Sadighi Gilani MA, Gourabi H, Dizaj AV, Mollamohamadi S. 2006. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10missense polymorph in Iranian males with congenital bilateral absence of the vas deferens. Mol Hum Rep 12: 469-473. (Pubitemid 44288206)
19. Rich DP, Berger HA, Cheng SH, Travis SM, Saxena M, Smith AE, Welsh MJ. 1993. Regulation of the cystic fibrosis transmembrane conductance regulator Cl channel by negative charge in the R domain. J Biol Chem 268:20259-20267. (Pubitemid 23278931)
20. Sambrook J, Fritsch EF, Maniatis T 1989. Isolation of DNA from mammalian cells in Molecular cloning. New York: Laboratory Press.
21. Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud CH, Des Georges M, Claustres M. 2007. Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 8:22.
22. Yahia M, Naimi D. 2005. Recherche des mutations du gène CFTR chez les patients affectés par l'Atrésie Bilatérale des canaux différents (ABCD) dans l'Est et Sud Algérien. Sci Technol 23:97-101.
23. Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC. 1995. Identification of six mutations (R31L, 441del A, 681del C, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat 5: 43-47.