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Original Article

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

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Pages 11-20 | Received 09 Jan 2007, Published online: 07 Jul 2009

References

  • Azaiez H., Chamberlin G.P., Fischer S.M., Welp C.L., Prasad S.D., et al. GJB2: The spectrum of deafness-causing allele variants and their phenotype. Hum Mutat 2004; 24: 305–11
  • Cohn E.S., Kelley P.M., Fowler T.W., Gorga M.P., Lefkowitz D.M., et al. Clinical studies of families with hearing loss attributable to mutations in the Connexin 26 gene (GJB2/DFNB1). Pediatrics 1999; 103: 546–50
  • Cryns K., Orzan E., Murgia A., Huygen P.L.M., Moreno F., et al. A genotype-phenotype correlation for GJB2 (Connexin 26) deafness. J Med Genet 2004; 41: 147–54
  • Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a Connexin-26 gene defect: Implications for genetic counseling. Lancet 1999; 353: 1298–303
  • Feldmann D., Denoyelle F., Chauvin P., Garabedian E., Couderc R., et al. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis. Am J Med Genet 2004; 127A: 263–67
  • Greene G.E., Smith J.H., Bent J.P., Cohn E.S. Genetic testing to identify deaf newborns. JAMA 2000; 284: 1245
  • Janecke A., Stadlmann A., Gunther B., Utermann B., Muller T., 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
  • Kelley P.M., Harris D.J., Comer B.C., et al. Novel mutations in the Connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792–99
  • 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.
  • Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGe review. Genet Med 2002; 4: 258–74
  • Marlin S., Feldmann D., Blons H., Loundon N., Rouillon I., et al. GJB2 and GJB6 mutations genotypic and phenotypic correlations in a large cohort of hearing impaired patients. Arch Otolaryngol Head Neck Surg 2005; 131: 481–87
  • 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.
  • Mueller R.F., Nehammer A., Middleton A., Houseman M., Taylor G.R., et al. Congenital nonsyndromal sensorineural hearing impairment due to Connexin 26 gene mutations: Molecular and audiological findings. Int J Pediatr Otorhinolaryngol 1999; 50: 3–13
  • Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., et al. Cx26 deafness: Mutation analysis and clinical variability. J Med Genet 1999; 36: 829–32
  • Norris V., Arnos K., Hanks W., Xia X., Nance W. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 2006; 27: 732–741
  • Orzan E., Polli R., Martella M., Vinanzi C., Leonardi M., et al. Molecular genetics applied to clinical practice: The Cx26 hearing impairment. Br J Audiol 1999; 33: 291–95
  • Orzan E., Murgia A., Polli R., Martella M., Mazza A., et al. Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population. Int J Audiol 2002; 41: 120–24
  • Orzan E., Murgia A. Connexin 26 deafness is not always congenital. Int J Pediatr Otorhinolaryngol 2007; 71: 510–507
  • Pagarkar W., Bitner-Glindzciz M., Knight J., Sirimanna T. Late postnatal onset of hearing loss due to GJB2 mutations. Int J Pediatr Otorhinolaryngol 2006; 70: 1119–1124
  • Ravecca F., Berretini S., Forli F., Marcaccini M., Casani A., et al. Cx26 gene mutations in idiopathic progressive hearing loss. J Otolaryngol 2005; 34: 126–34
  • Salvinelli F., Casale M., D'Ascanio L., Firrisi L., Greco F., et al. Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: Audiogram analysis. J Laryngol Otol 2004; 118: 8–11
  • Santos R.L., Aulchenko Y., Huygen P., van der Donk K., deWijs I., et al. Hearing impairment in Dutch patients with Connexin 26 (GJB2) and Connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 2005; 69: 165–74
  • Smith R.J.H., Bale J.F., White K.R. Sensorineural hearing loss in children. Lancet 2005; 365: 879–90
  • 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.
  • Stinckens C., Kremer H., Van Wijk E., Hoefsloot L.H., Huygen P.L.M., et al. Longitudinal phenotypic analysis in patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) mutations. Ann Otol Rhinol Laryngol 2004; 113: 587–93
  • Van Camp, G. & Smith, R.J.H. Heredity Hearing Loss Homepage. World Wide Web URL ( http://webhost.ua.ac.be/hhh)
  • Wilcox S.A., Saunders K., Osborn A.H., Arnold A., Wunderlich J., et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000; 106: 399–405

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