Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.

@article{Birkenhger2010AutosomalDP,
  title={Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.},
  author={Ralf Birkenh{\"a}ger and Nicola L{\"u}blinghoff and Erick Prera and Christian Schild and Antje Aschendorff and Susan Arndt},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 7},
  pages={1798-802}
}
About one to three of a 1,000 neonates are afflicted at birth with a serious hearing impairment, with about half of the cases due to genetic causes. Genetic causes of hearing impairment are very heterogeneous. About half of all cases of genetically caused nonsyndromic hearing loss can be ascribed to mutations in the GJB2 gene (connexin 26) and to deletions in the GJB6 gene(connexin 30). Thus far, about 90 different mutations have been identified in the GJB2 gene, of which the majority are… CONTINUE READING

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  • G VanCamp, Smith RJH
  • 2009

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