Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients

Hearing Research

Volumn 207, Issue 1-2, 2005, Pages 43-49

  Dalamón, Viviana ^a   Béhèran, Agustina ^b   Diamante, Fernando ^b   Pallares, Norma ^b   Diamante, Vicente ^b   Elgoyhen, Ana Belén ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b Centro de Implantes Cocleares Prof Dr Vicente Diamante   (Argentina)

Author keywords

c.35delG mutation; Connexin 26; Connexin 30; Deafness; delGJB6 D13S1830; GJB2; GJB6

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ADOLESCENT; ADULT; ALLELE; ARGENTINA; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; ARGENTINA; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONNEXINS; DNA; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; SEQUENCE DELETION;

EID: 24944556454     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.heares.2005.04.012     Document Type: Article

References (36)

1. Y.A. Bayazit, B.B. Cable, O. Cataloluk, C. Kara, P. Chamberlin, R.J. Smith, M. Kanlikama, E. Ozer, E.A. Cakmak, S. Mumbuc, and A. Arslan GJB2 gene mutations causing familial hereditary deafness in Turkey Int. J. Pediatr. Otorhinolaryngol. 67 2003 1331 1335
2. R. Bruzzone, V. Veronesi, D. Gomes, M. Bicego, N. Duval, S. Marlin, C. Petit, P. D'Andrea, and T.W. White Loss-of-function and residual channel activity of connexin 26 mutations associated with non-syndromic deafness FEBS Lett. 533 2003 79 88
3. K. Cryns, and G. Van Camp Deafness genes and their diagnostic applications Audiol. Neurootol. 9 2004 2 22
4. I.V. del Castillo, M.A. Moreno-Pelayo, F.J. del Castillo, A. Alvarez, D. Telleria, I. Menendez, and F. Moreno A deletion involving the connexin 30 gene in nonsyndromic hearing impairment New Eng. J. Med. 346 4 2002 243 249
5. I.V. del Castillo, M.A. Moreno-Pelayo, F.J. Del Castillo, Z. Brownstein, S. Marlin, Q. Adina, D.J. Cockburn, A. Pandya, K.R. Siemering, G.P. Chamberlin, E. Ballana, W. Wuyts, A.T. Maciel-Guerra, A. Alvarez, M. Villamar, M. Shohat, D. Abeliovich, H.H. Dahl, X. Estivill, P. Gasparini, T. Hutchin, W.E. Nance, E.L. Sartorato, R.J. Smith, G. Van Camp, K.B. Avraham, C. Petit, and F. Moreno Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study Am. J. Hum. Genet. 73 6 2003 1452 1458
6. F. Denoyelle, D. Weil, M.A. Maw, S.A. Wilcox, N.J. Lench, D.R. Allen-Powell, A.H. Osborn, H.H. Dahl, A. Middleton, M.J. Houseman, C. Dode, S. Marlin, A. Boulila-ElGaied, M. Grati, H. Ayadi, S. BenArab, P. Bitoun, G. Lina-Granade, J. Godet, M. Mustapha, J. Loiselet, E. El-Zir, A. Aubois, A. Joannard, and C. Petit Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene Hum. Mol. Genet. 6 12 1997 2173 2177
7. X. Estivill, P. Fortina, S. Surrey, R. Rabionet, S. Melchionda, L. D'Agruma, E. Mansfield, E. Rappaport, N. Govea, M. Mila, L. Zelante, and P. Gasparini Connexin-26 mutations in sporadic and inherited sensorineural deafness Lancet 351 9100 1998 394 398
8. P. Gasparini, R. Rabionet, G. Barbujani, S. Melchionda, M. Petersen, K. Brondum-Nielsen, A. Metspalu, E. Oitmaa, M. Pisano, P. Fortina, L. Zelante, and X. Estivill High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB235delG Eur. J. Hum. Genet. 8 2000 19 23
9. G.E. Green, D.A. Scott, J.M. McDonald, G.G. Woodworth, V.C. Sheffield, and R.J. Smith Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness JAMA 281 1999 2211 2216
10. A.J. Griffith, A.A. Chowdhry, K. Kurima, L.J. Hood, B. Keats, C.I. Berlin, R.J. Morell, and T.B. Friedman Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT Am. J. Hum. Genet. 67 2000 745 749
11. P.M. Kelley, D.J. Harris, B.C. Comer, J.W. Askew, T. Fowler, S.D. Smith, and W.J. Kimberling Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss Am. J. Hum. Genet. 62 1998 792 799
12. D.P. Kelsell, J. Dunlop, H.P. Stevens, N.J. Lench, J.N. Liang, G. Parry, R.F. Mueller, and I.M. Leigh Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature 387 6628 1997 80 83
13. M.A. Kenna, B.L. Wu, D.A. Cotanche, B.R. Korf, and H.L. Rehm Connexin 26 studies in patients with sensorineural hearing loss Arch. Otolaryngol. Head Neck Surg. 127 2001 1037 1042
14. D.T. Kiang, N. Jin, Z.J. Tu, and H.H. Lin Upstream genomic sequence of the human connexin 26 gene Gene 199 1997 165 171
15. T. Kikuchi, J.C. Adams, Y. Miyabe, E. So, and T. Kobayashi Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness Med. Electron. Microsc. 33 2000 51 56
16. S. Kupka, S. Braun, S. Aberle, B. Haack, M. Ebauer, U. Zeissler, H.P. Zenner, N. Blin, and M. Pfister Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment Hum. Mutat. 20 2002 77 78
17. M.J. Lee, and S.K. Rhee Heteromeric gap junction channels in rat hepatocytes in which the expression of connexin 26 is induced Mol. Cells 8 1998 295 300
18. S. Marlin, E.N. Garabedian, G. Roger, L. Moatti, N. Matha, P. Lewin, C. Petit, and F. Denoyelle Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling Arch. Otolaryngol. Head Neck Surg. 127 8 2001 927 933
19. P.E. Martin, S.L. Coleman, S.O. Casalotti, A. Forge, and W.H. Evans Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness Hum. Mol. Genet. 8 1999 2369 2376
20. R.J. Morell, H.J. Kim, L.J. Hood, L. Goforth, K. Friderici, R. Fisher, G. Van Camp, C.I. Berlin, C. Oddoux, H. Ostrer, B. Keats, and T.B. Friedman Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness New Engl. J. Med. 339 1998 1500 1505
21. N.E. Morton Genetic epidemiology of hearing impairment Ann. N.Y. Acad. Sci. 630 1991 16 31
22. OMIM. Online Mendelian Inheritance in Man. Available from: 〈 http://www.ncbi.nlm.nih.gov/omim/ 〉 (Online).
23. A. Oshima, T. Doi, K. Mitsuoka, S. Maeda, and Y. Fujiyoshi Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function J. Biol. Chem. 278 2003 1807 1816
24. S. Prasad, R.A. Cucci, G.E. Green, and R.J. Smith Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA) Hum. Mutat. 16 2000 502 508
25. R. Rabionet, L. Zelante, N. Lopez-Bigas, L. D'Agruma, S. Melchionda, G. Restagno, M.L. Arbones, P. Gasparini, and X. Estivill Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene Hum. Genet. 106 2000 40 44
26. G. Richard, T.W. White, L.E. Smith, R.A. Bailey, J.G. Compton, D.L. Paul, and S.J. Bale Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma Hum. Genet. 103 1998 393 399
27. A.F. Roux, N. Pallares-Ruiz, A. Vielle, V. Faugere, C. Templin, D. Leprevost, F. Artieres, G. Lina, N. Molinari, P. Blanchet, M. Mondain, and M. Claustres Molecular epidemiology of DFNB1 deafness in France BMC Med. Genet. 5 2004 5
28. Scott, D.A., K.M., Carmi, R., Ramesh, A., Elbedour, K., Yairi, Y., Srisailapathy, C.R., Rosengren, S.S., Markham, A.F., Mueller, R.F., Lench, N.J., Van Camp, G., Smith, R.J., Sheffield, V.C., 1998. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 11 (5), 387-394.
29. I.M. Skerrett, W.L. Di, E.M. Kasperek, D.P. Kelsell, and B.J. Nicholson Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin 26 M34T Faseb J. 18 2004 860 862
30. The Hereditary Hearing Loss Homepage-Guy Van Camp, Richard Smith. Available from: 〈 http://webhost.ua.ac.be/hhh 〉 (Online).
31. E. Thonnissen, R. Rabionet, M.L. Arbones, X. Estivill, K. Willecke, and T. Ott Human connexin 26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression Hum. Genet. 111 2002 190 197
32. F. Venail, A.F. Roux, N. Pallares-Ruiz, M. Claustres, P. Blanchet, Q. Gardiner, and M. Mondain Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports Laryngoscope 114 2004 566 569
33. S.A. Wilcox, K. Saunders, A.H. Osborn, A. Arnold, J. Wunderlich, T. Kelly, V. Collins, L.J. Wilcox, R.J. McKinlay Gardner, M. Kamarinos, B. Cone-Wesson, R. Williamson, and H.H. Dahl High frequency hearing loss correlated with mutations in the GJB2 gene Hum. Genet. 106 2000 399 405
34. B.L. Wu, N. Lindeman, V. Lip, A. Adams, R.S. Amato, G. Cox, M. Irons, M. Kenna, B. Korf, J. Raisen, and O. Platt Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing Genet. Med. 4 2002 279 288
35. L. Zelante, P. Gasparini, X. Estivill, S. Melchionda, L. D'Agruma, N. Govea, M. Mila, M.D. Monica, J. Lutfi, M. Shohat, E. Mansfield, K. Delgrosso, E. Rappaport, S. Surrey, and P. Fortina Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum. Mol. Genet. 6 1997 1605 1609
36. B. Zoll, L. Petersen, K. Lange, P. Gabriel, C. Kiese-Himmel, P. Rausch, J. Berger, B. Pasche, M. Meins, M. Gross, R. Berger, E. Kruse, J. Kunz, K. Sperling, and F. Laccone Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T > C) and -493del10 Hum. Mutat. 21 2002 98