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Volumn 34, Issue 2, 2005, Pages 126-134

Cx26 gene mutations in idiopathic progressive hearing loss

Author keywords

GJB2 mutations; Heterozygosity; Progressive sporadic hearing loss

Indexed keywords

DNA; MITOCHONDRIAL DNA; CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 26044443479     PISSN: 03816605     EISSN: None     Source Type: Journal    
DOI: 10.2310/7070.2005.04017     Document Type: Article
Times cited : (13)

References (56)
  • 1
    • 0036396927 scopus 로고    scopus 로고
    • Hereditary deafness and phenotyping in humans
    • Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br Med Bull 2002;63:73-94.
    • (2002) Br Med Bull , vol.63 , pp. 73-94
    • Bitner-Glindzicz, M.1
  • 2
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
    • Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3
  • 3
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353:1298-303.
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3
  • 4
    • 0032492217 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic and inherited sensorineural deafness
    • Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
    • (1998) Lancet , vol.351 , pp. 394-398
    • Estivill, X.1    Fortina, P.2    Surrey, S.3
  • 5
    • 1842452676 scopus 로고    scopus 로고
    • Audiological manifestations and features of connexin 26 deafness
    • Green GE, Mueller RF, Cohn ES, et al. Audiological manifestations and features of connexin 26 deafness. Audiol Med 2003;1:5-11.
    • (2003) Audiol Med , vol.1 , pp. 5-11
    • Green, G.E.1    Mueller, R.F.2    Cohn, E.S.3
  • 6
    • 0032935303 scopus 로고    scopus 로고
    • Cracking the auditory genetic code: Nonsyndromic hereditary hearing impairment
    • Lalwani AK, Castelein CM. Cracking the auditory genetic code: nonsyndromic hereditary hearing impairment. Am J Otol 1999;20:115-32.
    • (1999) Am J Otol , vol.20 , pp. 115-132
    • Lalwani, A.K.1    Castelein, C.M.2
  • 7
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 8
    • 0032575085 scopus 로고    scopus 로고
    • Connexin 26 gene linked to a dominant deafness
    • Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998; 393:319-20.
    • (1998) Nature , vol.393 , pp. 319-320
    • Denoyelle, F.1    Lina-Granade, G.2    Plauchu, H.3
  • 9
    • 4243238202 scopus 로고    scopus 로고
    • Exploring the clinical and epidemiological complexity of GJB2-linked deafness
    • Gualandi F, Ravani A, Berto A, et al. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet 2002;112:38-45.
    • (2002) Am J Med Genet , vol.112 , pp. 38-45
    • Gualandi, F.1    Ravani, A.2    Berto, A.3
  • 10
    • 0031007349 scopus 로고    scopus 로고
    • Connexin mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP, et al. Connexin mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 11
    • 0031933645 scopus 로고    scopus 로고
    • Connexin mutations and hearing loss
    • Scott DA, Kraft ML, Stone EM, et al. Connexin mutations and hearing loss. Nature 1998;391:32.
    • (1998) Nature , vol.391 , pp. 32
    • Scott, D.A.1    Kraft, M.L.2    Stone, E.M.3
  • 12
    • 0032514477 scopus 로고    scopus 로고
    • Connexin mutations and deafness
    • White TW, Deans MR, Kelsell DP, et al. Connexin mutations and deafness. Nature 1998;394:630-1.
    • (1998) Nature , vol.394 , pp. 630-631
    • White, T.W.1    Deans, M.R.2    Kelsell, D.P.3
  • 15
    • 0033037643 scopus 로고    scopus 로고
    • Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
    • Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546-50.
    • (1999) Pediatrics , vol.103 , pp. 546-550
    • Cohn, E.S.1    Kelley, P.M.2    Fowler, T.W.3
  • 16
    • 0032130635 scopus 로고    scopus 로고
    • Diagnostic and therapeutic approach to progressive sensorineural hearing loss
    • Berrettini S, Ravecca F, Forli F, et al. Diagnostic and therapeutic approach to progressive sensorineural hearing loss. Acta Otorhinolaryngol Ital 1998;Suppl 59:87-94.
    • (1998) Acta Otorhinolaryngol Ital , vol.59 , pp. 87-94
    • Berrettini, S.1    Ravecca, F.2    Forli, F.3
  • 17
    • 0029181378 scopus 로고
    • Die progrediente hörminderung-pathophysiologie, differentialdiagnostik, therapie
    • Lenarz T, Schönermark M. Die progrediente Hörminderung- Pathophysiologie, Differentialdiagnostik, Therapie. Laryngol Rhinol Otol (Stuttgart) 1995;74:1-6.
    • (1995) Laryngol Rhinol Otol (Stuttgart) , vol.74 , pp. 1-6
    • Lenarz, T.1    Schönermark, M.2
  • 18
  • 19
    • 1842569763 scopus 로고    scopus 로고
    • Audiological terms
    • Martini A, Mazzoli M, Stephens D, Read A, editors. London: Whurr Publishers
    • Stephens D. Audiological terms. In: Martini A, Mazzoli M, Stephens D, Read A, editors. Definitions, protocols and guidelines in genetic hearing impairment. London: Whurr Publishers; 2001. p. 9-14.
    • (2001) Definitions, Protocols and Guidelines in Genetic Hearing Impairment , pp. 9-14
    • Stephens, D.1
  • 20
    • 0031947397 scopus 로고    scopus 로고
    • Progressive sensorineural hearing impairment in systemic vasculitides
    • Berrettini S, Ferri C, Ravecca F, et al. Progressive sensorineural hearing impairment in systemic vasculitides. Semin Arthritis Rheum 1998;27:1-19.
    • (1998) Semin Arthritis Rheum , vol.27 , pp. 1-19
    • Berrettini, S.1    Ferri, C.2    Ravecca, F.3
  • 21
    • 29744456031 scopus 로고    scopus 로고
    • Protocollo comune per la valutazione dei risultati in audiologia riabilitativa
    • CRO Firenze
    • AA.VV. Protocollo comune per la valutazione dei risultati in audiologia riabilitativa. I Care. CRO Firenze 1997.
    • (1997) I Care
  • 23
    • 0022412730 scopus 로고
    • Progression of early childhood sensorineural hearing damage
    • Bohme G. Progression of early childhood sensorineural hearing damage. Laryngol Rhinol Otol (Stuttgart) 1985;64:470-2.
    • (1985) Laryngol Rhinol Otol (Stuttgart) , vol.64 , pp. 470-472
    • Bohme, G.1
  • 24
    • 0024210870 scopus 로고
    • Progressive sensorineural hearing loss in childhood
    • Newton VE, Rowson VJ. Progressive sensorineural hearing loss in childhood. Br J Audiol 1988;22:287-95.
    • (1988) Br J Audiol , vol.22 , pp. 287-295
    • Newton, V.E.1    Rowson, V.J.2
  • 25
    • 0021799551 scopus 로고
    • Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation
    • Parving A. Hearing disorders in childhood, some procedures for detection, identification and diagnostic evaluation. Int J Pediatr Otorhinolaryngol 1985;9:31-57.
    • (1985) Int J Pediatr Otorhinolaryngol , vol.9 , pp. 31-57
    • Parving, A.1
  • 26
    • 0032130219 scopus 로고    scopus 로고
    • Progressive sensorineural hearing loss: Neoplastic causes
    • Bacciu S, Piazza F, Negri M, et al. Progressive sensorineural hearing loss: neoplastic causes. Acta Otorhinolaryngol Ital 1998;Suppl 59:71-6.
    • (1998) Acta Otorhinolaryngol Ital , vol.59 , pp. 71-76
    • Bacciu, S.1    Piazza, F.2    Negri, M.3
  • 27
    • 0032129776 scopus 로고    scopus 로고
    • Iatrogenic and non iatrogenic factors as causes of progressive sensorineural hearing loss
    • De Capua B, Barbieri MT, Tozzi A, et al. Iatrogenic and non iatrogenic factors as causes of progressive sensorineural hearing loss. Acta Otorhinolaryngol Ital 1998;Suppl 59:55-8.
    • (1998) Acta Otorhinolaryngol Ital , vol.59 , pp. 55-58
    • De Capua, B.1    Barbieri, M.T.2    Tozzi, A.3
  • 28
    • 0032129758 scopus 로고    scopus 로고
    • Progressive sensorineural hearing loss: Metabolic, hormonal and vascular causes
    • Ravecca F, Berrettini S, Bruschini L, et al. Progressive sensorineural hearing loss: metabolic, hormonal and vascular causes. Acta Otorhinolaryngol Ital 1998;Suppl 59:42-50.
    • (1998) Acta Otorhinolaryngol Ital , vol.59 , pp. 42-50
    • Ravecca, F.1    Berrettini, S.2    Bruschini, L.3
  • 32
    • 0033600946 scopus 로고    scopus 로고
    • Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
    • Cohn ES, Kelley PM. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 1999;89:130-6.
    • (1999) Am J Med Genet , vol.89 , pp. 130-136
    • Cohn, E.S.1    Kelley, P.M.2
  • 33
    • 0036705561 scopus 로고    scopus 로고
    • Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations-phenotypic spectrum and frequencies of GJB2 mutations in Austria
    • Janecke AR, Hirst-Stadlmann A, Gunther B, et al. Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations-phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet 2002;111:145-53.
    • (2002) Hum Genet , vol.111 , pp. 145-153
    • Janecke, A.R.1    Hirst-Stadlmann, A.2    Gunther, B.3
  • 34
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park H-J, Hahn SH, Chun Y-M, et al. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535-8.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.-J.1    Hahn, S.H.2    Chun, Y.-M.3
  • 35
    • 0034643491 scopus 로고    scopus 로고
    • Genetic causes of hearing loss
    • Willems PJ. Genetic causes of hearing loss. N Engl J Med 2000;342:1101-9.
    • (2000) N Engl J Med , vol.342 , pp. 1101-1109
    • Willems, P.J.1
  • 36
    • 0034013087 scopus 로고    scopus 로고
    • Prevalent connexin 26 gene (GJB2) mutations in Japanese
    • Abe S, Usami S, Shinkawa H, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000; 37:41-3.
    • (2000) J Med Genet , vol.37 , pp. 41-43
    • Abe, S.1    Usami, S.2    Shinkawa, H.3
  • 37
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
    • Brobby GW, Muller-Myhsok B, Hostmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998;338:548-9.
    • (1998) N Engl J Med , vol.338 , pp. 548-549
    • Brobby, G.W.1    Muller-Myhsok, B.2    Hostmann, R.D.3
  • 38
    • 0036301921 scopus 로고    scopus 로고
    • A novel connexin 26 compound heterozygous mutation results in deafness
    • Harris KC, Erbe CB, Firszt JB, et al. A novel connexin 26 compound heterozygous mutation results in deafness. Laryngoscope 2002;112:1159-62.
    • (2002) Laryngoscope , vol.112 , pp. 1159-1162
    • Harris, K.C.1    Erbe, C.B.2    Firszt, J.B.3
  • 39
    • 0034677194 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    • Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000;90:141-5.
    • (2000) Am J Med Genet , vol.90 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3
  • 40
    • 0035180818 scopus 로고    scopus 로고
    • GJB2 (connexin 26) mutations and childhood deafness in Thailand
    • Kudo T, Ikeda K, Oshima T, et al. GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2001;22:858-61.
    • (2001) Otol Neurotol , vol.22 , pp. 858-861
    • Kudo, T.1    Ikeda, K.2    Oshima, T.3
  • 41
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-5.
    • (1998) N Engl J Med , vol.339 , pp. 1500-1505
    • Morell, R.J.1    Kim, H.J.2    Hood, L.J.3
  • 42
    • 0034022965 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • Kelsell DP, Wilgoss AL, Richard G, et al. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000;8: 141-4.
    • (2000) Eur J Hum Genet , vol.8 , pp. 141-144
    • Kelsell, D.P.1    Wilgoss, A.L.2    Richard, G.3
  • 43
    • 0035096676 scopus 로고    scopus 로고
    • Connexin mutations in skin disease and hearing loss
    • Kelsell DP, Di WL, Houseman MJ. Connexin mutations in skin disease and hearing loss. Am J Hum Genet 2001; 68:559-68.
    • (2001) Am J Hum Genet , vol.68 , pp. 559-568
    • Kelsell, D.P.1    Di, W.L.2    Houseman, M.J.3
  • 44
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE, et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998;103:393-9.
    • (1998) Hum Genet , vol.103 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3
  • 45
    • 0026584664 scopus 로고
    • Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generatuions
    • Sharland M, Bleach NR, Goberdhan PD, et al. Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generatuions. J Med Genet 1992;29:50-2.
    • (1992) J Med Genet , vol.29 , pp. 50-52
    • Sharland, M.1    Bleach, N.R.2    Goberdhan, P.D.3
  • 46
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
    • Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000;8:19-23.
    • (2000) Eur J Hum Genet , vol.8 , pp. 19-23
    • Gasparini, P.1    Rabionet, R.2    Barbujani, G.3
  • 47
    • 0035405978 scopus 로고    scopus 로고
    • Genetic analysis of the connexin-26 M34T variant
    • Griffith A. Genetic analysis of the connexin-26 M34T variant [serial online]. J Med Genet 2001;38:e24. Available at: 〈http://www.jmgjnl.eom/cgi/ content/full/38/7/e24〉.
    • (2001) J Med Genet , vol.38
    • Griffith, A.1
  • 48
    • 0037165262 scopus 로고    scopus 로고
    • A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
    • del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-9.
    • (2002) N Engl J Med , vol.346 , pp. 243-249
    • Del Castillo, I.1    Villamar, M.2    Moreno-Pelayo, M.A.3
  • 49
    • 0031949442 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    • Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-9.
    • (1998) Am J Hum Genet , vol.62 , pp. 792-799
    • Kelley, P.M.1    Harris, D.J.2    Comer, B.C.3
  • 50
    • 0345055300 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
    • Lench N, Houseman M, Newton V, et al. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998;351:415.
    • (1998) Lancet , vol.351 , pp. 415
    • Lench, N.1    Houseman, M.2    Newton, V.3
  • 51
    • 0035500580 scopus 로고    scopus 로고
    • Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A → G mitochondrial mutation
    • Abe S, Kelley PM, Kimberling WJ, et al. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A → G mitochondrial mutation. Am J Med Genet 2001;103:334-8.
    • (2001) Am J Med Genet , vol.103 , pp. 334-338
    • Abe, S.1    Kelley, P.M.2    Kimberling, W.J.3
  • 52
    • 0033911449 scopus 로고    scopus 로고
    • Candidate locus for a nuclear modifier gene for maternally inherited deafness
    • Bykhovskaya Y, Estivill X, Taylor K, et al. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am J Med Genet 2000;66:1905-10.
    • (2000) Am J Med Genet , vol.66 , pp. 1905-1910
    • Bykhovskaya, Y.1    Estivill, X.2    Taylor, K.3
  • 53
    • 0033912290 scopus 로고    scopus 로고
    • Mutations in the mitochondrial tRNA Ser (UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation
    • Lopez-Bigas N, Rabionet R, Martinez E, et al. Mutations in the mitochondrial tRNA Ser (UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation [letter]. Am J Med Genet 2000;66: 1465-7.
    • (2000) Am J Med Genet , vol.66 , pp. 1465-1467
    • Lopez-Bigas, N.1    Rabionet, R.2    Martinez, E.3
  • 54
    • 0034856656 scopus 로고    scopus 로고
    • Connexin 26 studies in patients with sensorineural hearing loss
    • Kenna MA, Wu BL, Cotanche DA, et al. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037-42.
    • (2001) Arch Otolaryngol Head Neck Surg , vol.127 , pp. 1037-1042
    • Kenna, M.A.1    Wu, B.L.2    Cotanche, D.A.3
  • 55
    • 0035138369 scopus 로고    scopus 로고
    • Genetic analysis of the connexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
    • Houseman MJ, Ellis LA, Pagnamenta A, et al. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 2001;38:20-5.
    • (2001) J Med Genet , vol.38 , pp. 20-25
    • Houseman, M.J.1    Ellis, L.A.2    Pagnamenta, A.3
  • 56
    • 0034098926 scopus 로고    scopus 로고
    • Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
    • Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-4.
    • (2000) Hum Genet , vol.106 , pp. 40-44
    • Rabionet, R.1    Zelante, L.2    Lopez-Bigas, N.3


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