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Volumn 8, Issue 2, 2005, Pages 104-108

Delta (GJB6-D13S1830) is not a common cause of nonsyndromic hearing loss in the Iranian population

Author keywords

Delta(GJB6 D13S1830); Iranian; Nonsyndromic hearing loss

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN;

EID: 18144404672     PISSN: 10292977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (27)
  • 2
    • 0026663506 scopus 로고
    • Genetic deafness
    • Reardon W. Genetic deafness. J Med Genet. 1992; 29: 521 - 526.
    • (1992) J Med Genet. , vol.29 , pp. 521-526
    • Reardon, W.1
  • 3
    • 0030946546 scopus 로고    scopus 로고
    • Nonsyndromic hearing impairment: Unparalleled heterogeneity
    • van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet. 1997; 60: 758 - 764.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 758-764
    • van Camp, G.1    Willems, P.J.2    Smith, R.J.3
  • 4
    • 0003853004 scopus 로고    scopus 로고
    • Hereditary hearing loss homepage
    • Available from: URL
    • van Camp G, Smith RJH. Hereditary hearing loss homepage. Available from: URL: http://www.uia.ac.be/dnalab/hhh, 2001.
    • (2001)
    • van Camp, G.1    Smith, R.J.H.2
  • 6
    • 0032969992 scopus 로고    scopus 로고
    • Genomics and hearing impairment
    • Keats BJ, Berlin CI. Genomics and hearing impairment. Genome Res. 1999; 9: 7 - 16.
    • (1999) Genome Res. , vol.9 , pp. 7-16
    • Keats, B.J.1    Berlin, C.I.2
  • 7
    • 0029166965 scopus 로고
    • The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population
    • Maw MA, Allen-Powell DR, Goodey RJ, et al. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet. 1995; 57: 629 - 635.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 629-635
    • Maw, M.A.1    Allen-Powell, D.R.2    Goodey, R.J.3
  • 8
    • 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 - 1505.
    • (1998) N. Engl. J. Med. , vol.339 , pp. 1500-1505
    • Morell, R.J.1    Kim, H.J.2    Hood, L.J.3
  • 9
    • 0035375301 scopus 로고    scopus 로고
    • Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population
    • Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population. Hum Mutat. 2001; 17: 521 - 522.
    • (2001) Hum. Mutat. , vol.17 , pp. 521-522
    • Gabriel, H.1    Kupsch, P.2    Sudendey, J.3    Winterhager, E.4    Jahnke, K.5    Lautermann, J.6
  • 10
    • 12644276408 scopus 로고    scopus 로고
    • Linkage of DFNB1 to nonsyndromic neurosensory autosomal recessive deafness in Mediterranean families
    • Gasparini P, Estivill X, Volpini V, et al. Linkage of DFNB1 to nonsyndromic neurosensory autosomal recessive deafness in Mediterranean families. Eur J Hum Genet. 1997; 5: 83 - 88.
    • (1997) Eur. J. Hum. Genet. , vol.5 , pp. 83-88
    • Gasparini, P.1    Estivill, X.2    Volpini, V.3
  • 11
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 1997; 387: 80 - 83.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 12
    • 0033812813 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with nonsyndromic hearing loss
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin 26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000; 110: 1535 - 1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 13
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet. 1997; 6: 1605 - 1609.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3    Melchionda, S.4    D'Agruma, L.5    Govea, N.6
  • 14
    • 0032715880 scopus 로고    scopus 로고
    • Developmental expression patterns of connexin 26 and 30 in the rat cochlea
    • Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E. Developmental expression patterns of connexin 26 and 30 in the rat cochlea. Dev Genet. 1999; 25: 306 - 311.
    • (1999) Dev. Genet. , vol.25 , pp. 306-311
    • Lautermann, J.1    Frank, H.G.2    Jahnke, K.3    Traub, O.4    Winterhager, E.5
  • 15
    • 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 - 249.
    • (2002) N. Engl. J. Med. , vol.346 , pp. 243-249
    • del Castillo, I.1    Villamar, M.2    Moreno-Pelayo, M.A.3
  • 16
    • 0036580878 scopus 로고    scopus 로고
    • GJB2 mutations in Iranian with autosomal recessive nonsyndromic sensorineural hearing loss
    • Najmabadi H, Cucci RA, Sahebjam S, et al. GJB2 mutations in Iranian with autosomal recessive nonsyndromic sensorineural hearing loss. Hum Mutat. 2002; 19: 572.
    • (2002) Hum. Mutat. , vol.19 , pp. 572
    • Najmabadi, H.1    Cucci, R.A.2    Sahebjam, S.3
  • 17
    • 7144228618 scopus 로고    scopus 로고
    • Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
    • Scott DA, Kfart ML, Carmi R, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 1998; 11: 387 - 394.
    • (1998) Hum. Mutat. , vol.11 , pp. 387-394
    • Scott, D.A.1    Kfart, M.L.2    Carmi, R.3
  • 18
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJH. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 1999; 281: 2211 - 2216.
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.E.1    Scott, D.A.2    McDonald, J.M.3    Woodworth, G.G.4    Sheffield, V.C.5    Smith, R.J.H.6
  • 19
    • 0035663441 scopus 로고    scopus 로고
    • Mutations in GJA1 (connexin 43) are associated with nonsyndromic autosomal recessive deafness
    • Liu XZ, Xia XJ, Adams J, et al. Mutations in GJA1 (connexin 43) are associated with nonsyndromic autosomal recessive deafness. Hum Mol Genet. 2001; 25: 2945 - 2951.
    • (2001) Hum. Mol. Genet. , vol.25 , pp. 2945-2951
    • Liu, X.Z.1    Xia, X.J.2    Adams, J.3
  • 20
    • 0032846415 scopus 로고    scopus 로고
    • Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
    • Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet. 1999; 23: 16 - 18.
    • (1999) Nat. Genet. , vol.23 , pp. 16-18
    • Grifa, A.1    Wagner, C.A.2    D'Ambrosio, L.3
  • 21
    • 85047699401 scopus 로고    scopus 로고
    • A large deletion including most of GJB6 in recessive nonsyndromic deafness: A digenic effect?
    • Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. A large deletion including most of GJB6 in recessive nonsyndromic deafness: a digenic effect? Eur J Hum Genet. 2002; 10: 72 - 76.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 72-76
    • Pallares-Ruiz, N.1    Blanchet, P.2    Mondain, M.3    Claustres, M.4    Roux, A.F.5
  • 22
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: A novel founder mutation in Ashkenazi Jews
    • Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat. 2001; 18: 460.
    • (2001) Hum. Mutat. , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 24
    • 9144251659 scopus 로고    scopus 로고
    • Prevalence and evolution of the del (GJB6-D13S1830) mutation in DFNB1 locus in hearing-impaired subjects: A multicenter study
    • Del Castillo I, Moreno-Pelayo MA, del Castillo FJ, et al. Prevalence and evolution of the del (GJB6-D13S1830) mutation in DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003; 73: 1452 - 1458.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1452-1458
    • Del Castillo, I.1    Moreno-Pelayo, M.A.2    del Castillo, F.J.3
  • 25
    • 0036821083 scopus 로고    scopus 로고
    • The prevalence of connexin 26 (GJB2) mutations in the Chinese population
    • Liu XZ, Xia XJ, Ke XM, et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet. 2002; 111: 394 - 397.
    • (2002) Hum. Genet. , vol.111 , pp. 394-397
    • Liu, X.Z.1    Xia, X.J.2    Ke, X.M.3
  • 26
    • 0037405984 scopus 로고    scopus 로고
    • Specrtrum of GJB2 mutations in Turkey comprising both Caucasian and oriental variants: Roles of parental consanguinity and assortative mating
    • Tekin M, Duman T, Bogoclu G, et al. Specrtrum of GJB2 mutations in Turkey comprising both Caucasian and oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat. 2003; 21: 552 - 553.
    • (2003) Hum. Mutat. , vol.21 , pp. 552-553
    • Tekin, M.1    Duman, T.2    Bogoclu, G.3
  • 27
    • 1542757104 scopus 로고    scopus 로고
    • The 342-kb deletion in GJB6 is not present in patients with nonsyndromic hearing loss from Austria
    • Günther B, Steiner A, Nekahm-Heis D, et al. The 342-kb deletion in GJB6 is not present in patients with nonsyndromic hearing loss from Austria. Hum Mutat. 2003; 22: 180.
    • (2003) Hum. Mutat. , vol.22 , pp. 180
    • Günther, B.1    Steiner, A.2    Nekahm-Heis, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.