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Volumn 4, Issue 2, 2011, Pages 331-335

Mutations of the connexin 26 gene in families with non-syndromic hearing loss

Author keywords

Connexin 26; GJB2; Non syndromic autosomal recessive deafness; Polymerase chain reaction restriction fragment length polymorphism

Indexed keywords

CONNEXIN 26;

EID: 79551713366     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2011.428     Document Type: Article
Times cited : (18)

References (41)
  • 1
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet R, Gasparini P and Estivill X: Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16: 190-202, 2000.
    • (2000) Hum Mutat , vol.16 , pp. 190-202
    • Rabionet, R.1    Gasparini, P.2    Estivill, X.3
  • 3
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • DOI 10.1097/00125817-200207000-00004
    • Kenneson A, Van Naarden Braun K and Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4: 258-274, 2002. (Pubitemid 44698560)
    • (2002) Genetics in Medicine , vol.4 , Issue.4 , pp. 258-274
    • Kenneson, A.1    Van, N.B.K.2    Boyle, C.3
  • 4
    • 52949116850 scopus 로고    scopus 로고
    • Genetics of congenital hearing impairment: A clinical approach
    • Tranebjaerg L: Genetics of congenital hearing impairment: a clinical approach. Int J Audiol 47: 535-545, 2008.
    • (2008) Int J Audiol , vol.47 , pp. 535-545
    • Tranebjaerg, L.1
  • 7
    • 0242266904 scopus 로고    scopus 로고
    • Gap Junctions in the Inner Ear: Comparison of Distribution Patterns in Different Vertebrates and Assessment of Connexin Composition in Mammals
    • DOI 10.1002/cne.10916
    • Forge A, Becker D, Casalotti S, Edwards J, Marziano N and Nevill G: Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals. J Comp Neurol 467: 207-231, 2003. (Pubitemid 37363146)
    • (2003) Journal of Comparative Neurology , vol.467 , Issue.2 , pp. 207-231
    • Forge, A.1    Becker, D.2    Casalotti, S.3    Edwards, J.4    Marziano, N.5    Nevill, G.6
  • 8
    • 0034469456 scopus 로고    scopus 로고
    • Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
    • DOI 10.1007/s007950070001
    • Kikuchi L, Adams JC, Miyabe Y, So E and Kobayashi L: Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Med Electron Microsc 33: 51-56, 2000. (Pubitemid 32164777)
    • (2000) Medical Electron Microscopy , vol.33 , Issue.2 , pp. 51-56
    • Kikuchi, T.1    Adams, J.C.2    Miyabe, Y.3    So, E.4    Kobayashi, T.5
  • 13
    • 69149109366 scopus 로고    scopus 로고
    • Prevalence of the connexin 26 mutation 35delG in non-syndromic hearing loss in Egypt
    • Mustafa MW: Prevalence of the connexin 26 mutation 35delG in non-syndromic hearing loss in Egypt. Internet J Otorhinolar 3: http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ ijorl/vol3n1/ connexin.xml, 2004.
    • (2004) Internet J Otorhinolar , vol.3
    • Mustafa, M.W.1
  • 14
    • 18044390304 scopus 로고    scopus 로고
    • GJB2 mutations in Turkish patients with ARNSHL: Prevalence and two novel mutations
    • DOI 10.1016/j.heares.2004.11.022
    • Kalay E, Caylan RK, Kremer H, Brouwer AP and Karaguzel A: GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res 203: 88-93, 2005. (Pubitemid 40602818)
    • (2005) Hearing Research , vol.203 , Issue.1-2 , pp. 88-93
    • Kalay, E.1    Caylan, R.2    Kremer, H.3    De, B.A.P.M.4    Karaguzel, A.5
  • 15
    • 38349023660 scopus 로고    scopus 로고
    • Prevalence of connexin 26 mutations in non- Syndromic recessive deafness in the Jordanian population
    • Mahasneh AA: Prevalence of connexin 26 mutations in non- syndromic recessive deafness in the Jordanian population. Int J Hum Genet 6: 119-124, 2006.
    • (2006) Int J Hum Genet , vol.6 , pp. 119-124
    • Mahasneh, A.A.1
  • 18
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
    • Brobby GW, Muller-Myhsok B and Horstmann RD: Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 338: 548-549, 1998.
    • (1998) N Engl J Med , vol.338 , pp. 548-549
    • Brobby, G.W.1    Muller-Myhsok, B.2    Horstmann, R.D.3
  • 20
    • 49149083047 scopus 로고    scopus 로고
    • Study of six mutations in the gjb2 gene in Cuban patients with nonsyndromic sensorineural deafness
    • Perea Y, Mato J, Amores I and Ferreira R: Study of six mutations in the gjb2 gene in Cuban patients with nonsyndromic sensorineural deafness. Biotecnol Apl 24: 241-245, 2007.
    • (2007) Biotecnol Apl , vol.24 , pp. 241-245
    • Perea, Y.1    Mato, J.2    Amores, I.3    Ferreira, R.4
  • 21
    • 0002496513 scopus 로고
    • 2nd edition. Ford N, Nolan C, Ferguson M (eds). Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York
    • Sambrook J, Fritsch EF and Maniatis T (eds): Molecular Cloning: A Laboratory Manual. Vol 1. 2nd edition. Ford N, Nolan C, Ferguson M (eds). Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, pp5-6, 1989.
    • (1989) Molecular Cloning: A Laboratory Manual , vol.1 , pp. 5-6
    • Sambrook, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 25
    • 0036705561 scopus 로고    scopus 로고
    • Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations - Phenotypic spectru and frequencies of GJB2 mutations in Austria
    • DOI 10.1007/s00439-002-0762-y
    • Janecke AR, Hirst-Stadlmann A, Günther B, Utermann B, Müller T, Löffler J, Utermann G and Nekahm-Heis D: Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations - phenotypic spectrum and frequencies of GJB2 mutations in Austria. Hum Genet 111: 145-153, 2002. (Pubitemid 36075032)
    • (2002) Human Genetics , vol.111 , Issue.2 , pp. 145-153
    • Janecke, A.R.1    Hirst-Stadlmann, A.2    Gunther, B.3    Utermann, B.4    Muller, T.5    Loffler, J.6    Utermann, G.7    Nekahm-Heis, D.8
  • 27
    • 0036524027 scopus 로고    scopus 로고
    • Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
    • DOI 10.1007/s00439-001-0674-2
    • Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, and Kanaan M: Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110: 284-289, 2002. (Pubitemid 36067450)
    • (2002) Human Genetics , vol.110 , Issue.3 , pp. 284-289
    • Shahin, H.1    Walsh, T.2    Sobe, T.3    Lynch, E.4    King, M.-C.5    Avraham, K.B.6    Kanaan, M.7
  • 28
    • 0035489776 scopus 로고    scopus 로고
    • Autosomal recessive non-syndromic hearing loss in the Lebanese population: Prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
    • Mustaapha BM, Salem N, Delague V, et al: Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet 38: e36, 2001.
    • (2001) J Med Genet , vol.38
    • Mustaapha, B.M.1    Salem, N.2    Delague, V.3
  • 30
    • 0034116117 scopus 로고    scopus 로고
    • Simple PCR test to detect the common 35delG mutation in the connexin 26 gene
    • Wilcox SA, Osborn AH and Dahl HH: Simple PCR test to detect the common 35delG mutation in the connexin 26 gene. Mol diagn 5: 75-78, 2000.
    • (2000) Mol Diagn , vol.5 , pp. 75-78
    • Wilcox, S.A.1    Osborn, A.H.2    Dahl, H.H.3
  • 31
    • 0034614011 scopus 로고    scopus 로고
    • Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
    • Lerer I, Sagi M, Malamud E, Levi H, Rothschild AR and Abeliovich D: Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 95: 53-56, 2000.
    • (2000) Am J Med Genet , vol.95 , pp. 53-56
    • Lerer, I.1    Sagi, M.2    Malamud, E.3    Levi, H.4    Rothschild, A.R.5    Abeliovich, D.6
  • 34
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • DOI 10.1097/00125817-200207000-00004
    • Kenneson A, van Naarden Braun K and Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4: 258-274, 2002. (Pubitemid 44698560)
    • (2002) Genetics in Medicine , vol.4 , Issue.4 , pp. 258-274
    • Kenneson, A.1    Van, N.B.K.2    Boyle, C.3
  • 35
    • 2542482799 scopus 로고    scopus 로고
    • Molecular epidemiology of DFNB1 deafness in France
    • Roux AF, Pallares-Ruiz N, Vielle A, et al: Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet 5: 5, 2004.
    • (2004) BMC Med Genet , vol.5 , pp. 5
    • Roux, A.F.1    Pallares-Ruiz, N.2    Vielle, A.3
  • 36
    • 0041321501 scopus 로고    scopus 로고
    • Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
    • Maheswari M, Vijaya R, Ghosh M, Shastri S, Kabra M and Menon PSN: Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2 gene. Indian Scenario. Am J Med Genet 120: 180-184, 2003. (Pubitemid 37063794)
    • (2003) American Journal of Medical Genetics , vol.120 A , Issue.2 , pp. 180-184
    • Maheshwari, M.1    Vijaya, R.2    Ghosh, M.3    Shastri, S.4    Kabra, M.5    Menon, P.S.N.6
  • 38
    • 0032715472 scopus 로고    scopus 로고
    • Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness
    • Martin PE, Coleman SL, Casalotti SO, Forge A and Evans WH: Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness. Hum Mol Genet 8: 2369-2376, 1999.
    • (1999) Hum Mol Genet , vol.8 , pp. 2369-2376
    • Martin, P.E.1    Coleman, S.L.2    Casalotti, S.O.3    Forge, A.4    Evans, W.H.5
  • 39
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
    • DOI 10.1093/hmg/6.12.2163
    • Carrasquillo MM, Zlotogora J, Barges S, and Chakravarti A: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6: 2163-2172, 1997. (Pubitemid 27477960)
    • (1997) Human Molecular Genetics , vol.6 , Issue.12 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Chakravarti, A.4
  • 40
    • 0033838433 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT
    • DOI 10.1086/303045
    • Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ and Friedman TB: autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. Am J Hum Genet 67: 745-49, 2000. (Pubitemid 30659604)
    • (2000) American Journal of Human Genetics , vol.67 , Issue.3 , pp. 745-749
    • Griffith, A.J.1    Chowdhry, A.A.2    Kurima, K.3    Hood, L.J.4    Keats, B.5    Berlin, C.I.6    Morell, R.J.7    Friedman, T.B.8


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