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Ultrastructure of the Hair in Genetic Prelingual Deafness Associated with the 35delG Mutation in the Connexin 26 Gene (GJB2)

✍ Scribed by S. G. Zhuravskiy; A. A. Kurus; A. E. Taraskina; S. A. Ivanov


Publisher
Springer US
Year
2009
Tongue
English
Weight
203 KB
Volume
148
Category
Article
ISSN
0007-4888

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Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in

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Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients