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Volumn 38, Issue 4, 2011, Pages 444-449

The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients

Author keywords

Blood test parameters; Cochlear implant; GJB2 mutation; Homozygous 235delC; LDH; Y136X G45E

Indexed keywords

CHOLINESTERASE; CONNEXIN 26; LACTATE DEHYDROGENASE;

EID: 79953057226     PISSN: 03858146     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anl.2010.11.012     Document Type: Article
Times cited : (7)

References (23)
  • 1
    • 0032935303 scopus 로고    scopus 로고
    • Cracking the auditory genetic code: nonsyndromic hereditary hearing impairments
    • Lalwani A.K., Castelein C.M. Cracking the auditory genetic code: nonsyndromic hereditary hearing impairments. Am J Otoloringol 1999, 20:115-132.
    • (1999) Am J Otoloringol , vol.20 , pp. 115-132
    • Lalwani, A.K.1    Castelein, C.M.2
  • 2
    • 0030946546 scopus 로고    scopus 로고
    • Nonsyndromic hearing impairment: unparalleled heterogeneity
    • Van Camp G., Williams P.J., Smith R.J.H. 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    Williams, P.J.2    Smith, R.J.H.3
  • 3
    • 0032547941 scopus 로고    scopus 로고
    • A new era in the genetics of deafness
    • Steel K.P. A new era in the genetics of deafness. N Engl J Med 1998, 339:1545-1547.
    • (1998) N Engl J Med , vol.339 , pp. 1545-1547
    • Steel, K.P.1
  • 4
    • 3142696991 scopus 로고    scopus 로고
    • Progress in understanding GJB2-linked deafness
    • Gualandi F., Martini A., Calzolari E. Progress in understanding GJB2-linked deafness. Community Genet 2003, 6:125-132.
    • (2003) Community Genet , vol.6 , pp. 125-132
    • Gualandi, F.1    Martini, A.2    Calzolari, E.3
  • 5
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., et al. Connexin 26 mutations in hereditary non-syndromic 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    Lench, N.J.4    Liang, J.N.5    Parry, G.6
  • 6
    • 10744230689 scopus 로고    scopus 로고
    • Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
    • Yan D., Park H.J., Ouyang X.M., Pandya A., Doi K., Erdenetungalag R., et al. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 2003, 114:44-50. 10.1007/s00439-003-1018-1.
    • (2003) Hum Genet , vol.114 , pp. 44-50
    • Yan, D.1    Park, H.J.2    Ouyang, X.M.3    Pandya, A.4    Doi, K.5    Erdenetungalag, R.6
  • 8
    • 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., Matsubara Y., Oshima T., Watanabe K., et al. Novel Mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000, 90:141-145.
    • (2000) Am J Med Genet , vol.90 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3    Matsubara, Y.4    Oshima, T.5    Watanabe, K.6
  • 9
    • 69549086554 scopus 로고    scopus 로고
    • High prevalence of the connexin 26(GJB2) mutation in Chinese cochlear implant recipients
    • Chen D., Chen X., Cao K., Zuo J., Jin X., Wei C., et al. High prevalence of the connexin 26(GJB2) mutation in Chinese cochlear implant recipients. ORL J Otorhinolaryngol Relat Spec 2009, 71(4):212-215.
    • (2009) ORL J Otorhinolaryngol Relat Spec , vol.71 , Issue.4 , pp. 212-215
    • Chen, D.1    Chen, X.2    Cao, K.3    Zuo, J.4    Jin, X.5    Wei, C.6
  • 12
    • 34447260277 scopus 로고    scopus 로고
    • Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
    • A
    • Kenna M.A., Rehm H.L., Robson C.D., Frangulov A., McCallum J., Yaeger D., et al. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?. Am J Med Genet A 2007, 143A(14):1560-1566.
    • (2007) Am J Med Genet A , vol.143 , Issue.14 , pp. 1560-1566
    • Kenna, M.A.1    Rehm, H.L.2    Robson, C.D.3    Frangulov, A.4    McCallum, J.5    Yaeger, D.6
  • 14
    • 77949453020 scopus 로고    scopus 로고
    • GJB2 mutations and genotype-phenotype correlation in 335 patients from Germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods
    • Bartsch O., Vatter A., Zechner U., Kohischmidt N., Wetzig C., Baumgart A., et al. GJB2 mutations and genotype-phenotype correlation in 335 patients from Germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. Audiol Neurotol 2010, 15:375-382.
    • (2010) Audiol Neurotol , vol.15 , pp. 375-382
    • Bartsch, O.1    Vatter, A.2    Zechner, U.3    Kohischmidt, N.4    Wetzig, C.5    Baumgart, A.6
  • 15
    • 0347951342 scopus 로고    scopus 로고
    • The effect of GJB2 allele variants on performance after cochlear implantation
    • Bauer P.W., Geers A.E., Brenner C., Moog J.S., Smith R.J. The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 2003, 113:2135-2140.
    • (2003) Laryngoscope , vol.113 , pp. 2135-2140
    • Bauer, P.W.1    Geers, A.E.2    Brenner, C.3    Moog, J.S.4    Smith, R.J.5
  • 17
    • 8544259613 scopus 로고    scopus 로고
    • Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness
    • Sinnathuray A.R., Toner J.G., Geddis A., Clarke-Lyttle J., Patterson C.C., Hughes A.E. Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness. Otol Neurotol 2004, 25:930-934.
    • (2004) Otol Neurotol , vol.25 , pp. 930-934
    • Sinnathuray, A.R.1    Toner, J.G.2    Geddis, A.3    Clarke-Lyttle, J.4    Patterson, C.C.5    Hughes, A.E.6
  • 18
    • 3843139559 scopus 로고    scopus 로고
    • Cochlear implantation for children with GJB2-related deafness
    • Cullen R.D., Buchman C.A., Brown C.J. Cochlear implantation for children with GJB2-related deafness. Laryngoscope 2004, 114:1415-1419.
    • (2004) Laryngoscope , vol.114 , pp. 1415-1419
    • Cullen, R.D.1    Buchman, C.A.2    Brown, C.J.3
  • 19
    • 2342664954 scopus 로고    scopus 로고
    • Venick.GJB2 gene mutations in cochlear implant recipients: prevalence and impact on outcome
    • Lustig L.R., Lin D. Venick.GJB2 gene mutations in cochlear implant recipients: prevalence and impact on outcome. Arch Otolaryngol Head Neck Surg 2004, 130:541-546.
    • (2004) Arch Otolaryngol Head Neck Surg , vol.130 , pp. 541-546
    • Lustig, L.R.1    Lin, D.2
  • 21
    • 0036160192 scopus 로고    scopus 로고
    • Successful cochlear implantation in prelingual profound deafness resulting from the common 235delC mutation of the GJB2 gene in the Japanese
    • Matsushiro N., Doi K., Fuse Y., Nagai K., Yamamoto K., Iwaki T., et al. Successful cochlear implantation in prelingual profound deafness resulting from the common 235delC mutation of the GJB2 gene in the Japanese. Laryngoscope 2002, 112:255-261.
    • (2002) Laryngoscope , vol.112 , pp. 255-261
    • Matsushiro, N.1    Doi, K.2    Fuse, Y.3    Nagai, K.4    Yamamoto, K.5    Iwaki, T.6
  • 23
    • 20144386649 scopus 로고    scopus 로고
    • Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
    • Oguchi T., Ohtsuka A., Hashimoto S., Oshima A., Abe S., Kobayashi Y., et al. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet 2005, 50:76-83.
    • (2005) J Hum Genet , vol.50 , pp. 76-83
    • Oguchi, T.1    Ohtsuka, A.2    Hashimoto, S.3    Oshima, A.4    Abe, S.5    Kobayashi, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.