메뉴 건너뛰기




Volumn 47, Issue 1, 2008, Pages 11-20

Is hearing loss due to mutations in the Connexin 26 gene progressive?

Author keywords

35delG; DFNB1; GJB2; Non syndromic recessive hearing loss; Progression of hearing loss

Indexed keywords

CONNEXIN 26;

EID: 38149012080     PISSN: 14992027     EISSN: 17088186     Source Type: Journal    
DOI: 10.1080/14992020701602087     Document Type: Article
Times cited : (22)

References (27)
  • 1
    • 5044238154 scopus 로고    scopus 로고
    • GJB2: The spectrum of deafness-causing allele variants and their phenotype
    • Azaiez, H., Chamberlin, G.P., Fischer, S.M., Welp, C.L., Prasad, S.D., et al. 2004. GJB2: The spectrum of deafness-causing allele variants and their phenotype. Hum Mutat, 24, 305-11.
    • (2004) Hum Mutat , vol.24 , pp. 305-311
    • Azaiez, H.1    Chamberlin, G.P.2    Fischer, S.M.3    Welp, C.L.4    Prasad, S.D.5
  • 2
    • 0033037643 scopus 로고    scopus 로고
    • Clinical studies of families with hearing loss attributable to mutations in the Connexin 26 gene (GJB2/DFNB1)
    • Cohn, E.S., Kelley, P.M., Fowler, T.W., Gorga, M.P., Lefkowitz, D.M., et al. 1999. Clinical studies of families with hearing loss attributable to mutations in the Connexin 26 gene (GJB2/DFNB1). Pediatrics, 103, 546-50.
    • (1999) Pediatrics , vol.103 , pp. 546-550
    • Cohn, E.S.1    Kelley, P.M.2    Fowler, T.W.3    Gorga, M.P.4    Lefkowitz, D.M.5
  • 3
    • 12144287717 scopus 로고    scopus 로고
    • A genotype-phenotype correlation for GJB2 (Connexin 26) deafness
    • Cryns, K., Orzan, E., Murgia, A., Huygen, P.L.M., Moreno, F., et al. 2004. A genotype-phenotype correlation for GJB2 (Connexin 26) deafness. J Med Genet, 41, 147-54.
    • (2004) J Med Genet , vol.41 , pp. 147-154
    • Cryns, K.1    Orzan, E.2    Murgia, A.3    Huygen, P.L.M.4    Moreno, F.5
  • 4
    • 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 counseling
    • Denoyelle, F., Marlin, S., Weil, D., Moatti, L., Chauvin, P., et al. 1999. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a Connexin-26 gene defect: Implications for genetic counseling. Lancet, 353, 1298-303.
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5
  • 5
    • 2542461502 scopus 로고    scopus 로고
    • Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
    • Feldmann, D., Denoyelle, F., Chauvin, P., Garabedian, E., Couderc, R., et al. 2004. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis. Am J Med Genet, 127A, 263-67.
    • (2004) Am J Med Genet , vol.127 A , pp. 263-267
    • Feldmann, D.1    Denoyelle, F.2    Chauvin, P.3    Garabedian, E.4    Couderc, R.5
  • 6
    • 0034644421 scopus 로고    scopus 로고
    • Genetic testing to identify deaf newborns
    • Greene, G.E., Smith, J.H., Bent, J.P. & Cohn, E.S. 2000. Genetic testing to identify deaf newborns. JAMA, 284, 1245.
    • (2000) JAMA , vol.284 , pp. 1245
    • Greene, G.E.1    Smith, J.H.2    Bent, J.P.3    Cohn, E.S.4
  • 7
    • 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, A., Stadlmann, A., Gunther, B., Utermann, B., Muller, T., et al. 2002. 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, 145-53.
    • (2002) Hum Genet , vol.111 , pp. 145-153
    • Janecke, A.1    Stadlmann, A.2    Gunther, B.3    Utermann, B.4    Muller, T.5
  • 8
    • 0031949442 scopus 로고    scopus 로고
    • Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    • Kelley, P.M., Harris, D.J., Comer, B.C., et al. 1998. Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet, 62, 792-99.
    • (1998) Am J Hum Genet , vol.62 , pp. 792-799
    • Kelley, P.M.1    Harris, D.J.2    Comer, B.C.3
  • 9
    • 38149016564 scopus 로고    scopus 로고
    • Kenna M., Frangulov A. & Rehm H. 2005. Audiologic and clinical phenotype-genotype relationships in children with Connexin 26 mutations. Abstract 786; ARO 2/21/2005.
    • Kenna M., Frangulov A. & Rehm H. 2005. Audiologic and clinical phenotype-genotype relationships in children with Connexin 26 mutations. Abstract 786; ARO 2/21/2005.
  • 10
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGe review
    • Kenneson, A., Van Naarden Braun, K. & Boyle, C. 2002. GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGe review. Genet Med, 4, 258-74.
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 11
    • 21244432046 scopus 로고    scopus 로고
    • GJB2 and GJB6 mutations genotypic and phenotypic correlations in a large cohort of hearing impaired patients
    • Marlin, S., Feldmann, D., Blons, H., Loundon, N., Rouillon, I., et al. 2005. GJB2 and GJB6 mutations genotypic and phenotypic correlations in a large cohort of hearing impaired patients. Arch Otolaryngol Head Neck Surg, 131, 481-87.
    • (2005) Arch Otolaryngol Head Neck Surg , vol.131 , pp. 481-487
    • Marlin, S.1    Feldmann, D.2    Blons, H.3    Loundon, N.4    Rouillon, I.5
  • 12
    • 38149085722 scopus 로고    scopus 로고
    • Martini A., Stephens D., Parving A., Petit C., Cremers C. et al. 1996. Hereditary Deafness, Epidemiology and Clinical Research. A project from European Commission Directorate-General XII-Science, Research and Development Biomedical and Health Research Program (Biomed 2) Biomedical Technologies., H.E.A.R. project, Ferrara, pp. 8-9.
    • Martini A., Stephens D., Parving A., Petit C., Cremers C. et al. 1996. Hereditary Deafness, Epidemiology and Clinical Research. A project from European Commission Directorate-General XII-Science, Research and Development Biomedical and Health Research Program (Biomed 2) Biomedical Technologies., H.E.A.R. project, Ferrara, pp. 8-9.
  • 13
    • 0032877067 scopus 로고    scopus 로고
    • Congenital nonsyndromal sensorineural hearing impairment due to Connexin 26 gene mutations: Molecular and audiological findings
    • Mueller, R.F., Nehammer, A., Middleton, A., Houseman, M., Taylor, G.R., et al. 1999. Congenital nonsyndromal sensorineural hearing impairment due to Connexin 26 gene mutations: Molecular and audiological findings. Int J Pediatr Otorhinolaryngol, 50, 3-13.
    • (1999) Int J Pediatr Otorhinolaryngol , vol.50 , pp. 3-13
    • Mueller, R.F.1    Nehammer, A.2    Middleton, A.3    Houseman, M.4    Taylor, G.R.5
  • 14
    • 0032727332 scopus 로고    scopus 로고
    • Cx26 deafness: Mutation analysis and clinical variability
    • Murgia, A., Orzan, E., Polli, R., Martella, M., Vinanzi, C., et al. 1999. Cx26 deafness: Mutation analysis and clinical variability. J Med Genet, 36, 829-32.
    • (1999) J Med Genet , vol.36 , pp. 829-832
    • Murgia, A.1    Orzan, E.2    Polli, R.3    Martella, M.4    Vinanzi, C.5
  • 15
    • 33750630301 scopus 로고    scopus 로고
    • Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness
    • Norris, V., Arnos, K., Hanks, W., Xia, X. & Nance, W. 2006. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear, 27, 732-741.
    • (2006) Ear Hear , vol.27 , pp. 732-741
    • Norris, V.1    Arnos, K.2    Hanks, W.3    Xia, X.4    Nance, W.5
  • 16
    • 0033399961 scopus 로고    scopus 로고
    • Molecular genetics applied to clinical practice: The Cx26 hearing impairment
    • Orzan, E., Polli, R., Martella, M., Vinanzi, C., Leonardi, M., et al. 1999. Molecular genetics applied to clinical practice: The Cx26 hearing impairment. Br J Audiol, 33, 291-95.
    • (1999) Br J Audiol , vol.33 , pp. 291-295
    • Orzan, E.1    Polli, R.2    Martella, M.3    Vinanzi, C.4    Leonardi, M.5
  • 17
    • 0036516906 scopus 로고    scopus 로고
    • Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population
    • Orzan, E., Murgia, A., Polli, R., Martella, M., Mazza, A., et al. 2002. Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population. Int J Audiol, 41, 120-24.
    • (2002) Int J Audiol , vol.41 , pp. 120-124
    • Orzan, E.1    Murgia, A.2    Polli, R.3    Martella, M.4    Mazza, A.5
  • 18
    • 33846311141 scopus 로고    scopus 로고
    • Connexin 26 deafness is not always congenital
    • Orzan, E. & Murgia, A. 2007. Connexin 26 deafness is not always congenital. Int J Pediatr Otorhinolaryngol, 71, 510-507.
    • (2007) Int J Pediatr Otorhinolaryngol , vol.71 , pp. 510-507
    • Orzan, E.1    Murgia, A.2
  • 21
    • 1642498356 scopus 로고    scopus 로고
    • Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: Audiogram analysis
    • Salvinelli, F., Casale, M., D'Ascanio, L., Firrisi, L., Greco, F., et al. 2004. Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: Audiogram analysis. J Laryngol Otol, 118, 8-11.
    • (2004) J Laryngol Otol , vol.118 , pp. 8-11
    • Salvinelli, F.1    Casale, M.2    D'Ascanio, L.3    Firrisi, L.4    Greco, F.5
  • 22
  • 23
    • 14744282666 scopus 로고    scopus 로고
    • Sensorineural hearing loss in children
    • Smith, R.J.H., Bale, J.F. & White, K.R. 2005. Sensorineural hearing loss in children. Lancet, 365, 879-90.
    • (2005) Lancet , vol.365 , pp. 879-890
    • Smith, R.J.H.1    Bale, J.F.2    White, K.R.3
  • 24
    • 28144444402 scopus 로고    scopus 로고
    • Snoeckx R., Huygen P., Feldmann D., Marlin S., Denoyelle F. et al. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet, 77.
    • Snoeckx R., Huygen P., Feldmann D., Marlin S., Denoyelle F. et al. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet, 77.
  • 25
    • 3142543155 scopus 로고    scopus 로고
    • Longitudinal phenotypic analysis in patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) mutations
    • Stinckens, C., Kremer, H., Van Wijk, E., Hoefsloot, L.H., Huygen, P.L.M., et al. 2004. Longitudinal phenotypic analysis in patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) mutations. Ann Otol Rhinol Laryngol, 113, 587-93.
    • (2004) Ann Otol Rhinol Laryngol , vol.113 , pp. 587-593
    • Stinckens, C.1    Kremer, H.2    Van Wijk, E.3    Hoefsloot, L.H.4    Huygen, P.L.M.5
  • 27
    • 0034096496 scopus 로고    scopus 로고
    • High frequency hearing loss correlated with mutations in the GJB2 gene
    • Wilcox, S.A., Saunders, K., Osborn, A.H., Arnold, A., Wunderlich, J., et al. 2000. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet, 106, 399-405.
    • (2000) Hum Genet , vol.106 , pp. 399-405
    • Wilcox, S.A.1    Saunders, K.2    Osborn, A.H.3    Arnold, A.4    Wunderlich, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.