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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Performance of cochlear implant recipients with GJB2-related deafness.

Congenital profound hearing loss affects 0.05-0.1% of children and has many causes, some of which are associated with cognitive delay. For prelingually-deafened cochlear implant recipients, the etiology of deafness is usually unknown. Mutations in GJB2 have been established as the most common cause of heritable deafness in the United States. In this report, we identify cochlear implant recipients with GJB2-related deafness and examine the performance of these individuals. Cochlear implant recipients received a battery of perceptive, cognitive, and reading tests. Neither subjects nor examiners knew the etiology of deafness in these individuals. The implant recipients were then examined for mutations in GJB2 using an allele-specific polymerase chain reaction assay, single-strand conformation polymorphism analysis, and direct sequencing. GJB2 mutations were the leading cause of congenital deafness among the cochlear implant recipients screened. Cochlear implant recipients with GJB2-related deafness read within one standard deviation of hearing controls better than other congenitally deaf cochlear implant recipients and non-cochlear implant recipients. Individuals with congenital deafness should be offered GJB2 screening. Positive results establish an etiologic diagnosis and provide prognostic, genetic, and therapeutic information. Effective rehabilitation for profoundly deaf individuals with GJB2-related deafness is possible through cochlear implantation.[1]


  1. Performance of cochlear implant recipients with GJB2-related deafness. Green, G.E., Scott, D.A., McDonald, J.M., Teagle, H.F., Tomblin, B.J., Spencer, L.J., Woodworth, G.G., Knutson, J.F., Gantz, B.J., Sheffield, V.C., Smith, R.J. Am. J. Med. Genet. (2002) [Pubmed]
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