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

References

• 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.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Chih Wu C, Alper ÖM, 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M. 1992. Molecular characterisation of cystic 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.
   PubMed Web of Science ®Google Scholar
• Fontaine E, Jardin A. 2001. Anomalies des organes génitaux internes masculins et retentissement sur la fertilité. Prog Uro. 11:729–732.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• G Noone P, R Knowles M. 2001. CFTR-Opathies: disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Resp Res. 2:328–332.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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 rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Rep. 22:1285–1291.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Sambrook J, Fritsch EF, Maniatis T. 1989. Isolation of DNA from mammalian cells in Molecular cloning. New York: Laboratory Press.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC. 1995. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat. 5:43–47.
   PubMed Web of Science ®Google Scholar