53
Views
13
CrossRef citations to date
0
Altmetric
Research Article

GJB2 Gene Mutations in Childhood Deafness

Pages 133-136 | Published online: 08 Jul 2009

References

  • Morton NE. Genetic epidemiology of hearing impair-ment. Ann NY Acad Sci 1991; 630: 16–31.
  • Carrasquillo MM, Zlotoroga J, Barges S, Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997; 6: 2163–72.
  • Zelante L, Gasparini P, Estivill X, et al. 26 mutations associated with the most common form of nonsyn-dromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605–9.
  • Kellsel DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 1997; 387: 80–3.
  • Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: High prevalence of a 30deIG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173–7.
  • Kelley PM, Harris DJ, Comer BC, et al. Novel muta-tions in the connexin 26 Gene (GJB2) that cause auto-somal recessive (DFNB1) hearing loss. Am J Human Genet 1998; 62: 792–9.
  • Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited neurosensorial deafness. Lancet 1998; 351: 394–8.
  • 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: 2211–6.
  • Smith RJH, Van Camp G, eds. @Hereditary hearing loss homepage. Http://dnalab-www.uia.ac.be/dnalab/ hhh/index.html. 1999.
  • Dyer JJ, Strasnick B, Jacobson JT. Teratogenic hearing loss: a clinical perspective. Am J Otol 1998; 19: 671–8.
  • Van Rijn PM, Cremers CWRJ. Causes of childhood deafness at a Dutch school for the hearing impaired. Ann Otol Rhinol Laryungol 1991; 100: 903–8.
  • Scott DA, Kraft ML, Carmi R, et al. Identification of mutations in the connexin 26 gene that cause autoso-mal recessive nonsyndromic hearing loss. Hum Muta-tion 1998; 11: 387–94.
  • Steel KP. A new era in the genetics of deafness. N Engl J Med 1998; 229: 1545–7.
  • Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999; 103: 546–50.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.