Abstract
Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate 1 . More than 50% of the cases of profound early-onset deafness are caused by genetic factors 2, 3 . Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown to cause hearing loss 4 . Mutations in the gene encoding connexin 26 ( GJB2 ) cause both autosomal recessive and dominant forms of hearing impairment 5, 6 . To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene ( GJB3 ) encoding human gap junction protein β-3 using homologous EST searching and nested PCR. GJB3 was mapped to human chromosome 1p33-p35. Mutation analysis revealed that a missense mutation and a nonsense mutation of GJB3 were associated with high-frequency hearing loss in two families. Moreover, expression of Gjb3 was identified in rat inner ear tissue by RT-PCR. These findings suggest that mutations in GJB3 may be responsible for bilateral high-frequency hearing impairment.
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Acknowledgements
This study was supported by a Chinese 863 projects grant (z19-02-02-02), the Chinese Natural Science Foundation (grant 39392902) and SmithKline Beecham-Hunan Medical University Collaborative Project.
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Xia., Jh., Liu, Cy., Tang, Bs. et al. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment. Nat Genet 20, 370–373 (1998). https://doi.org/10.1038/3845
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DOI: https://doi.org/10.1038/3845
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