Abstract
Mutations in the GJB2 gene (connexin 26) are the major cause of autosomal recessive non-syndromic hearing impairment in many populations. In contrast to the volume of information regarding the involvement of GJB2 mutations in hearing impairment in populations of European ancestry, less is known regarding other ethnic groups. In this study, we analyzed the GJB2 gene for mutations in 1227 hearing-impaired Japanese individuals. This revealed a unique spectrum of GJB2 mutations, different from that found in the Caucasian population. The most frequent mutation in Japanese, 235delC, has never been reported in Caucasians. To investigate a possible founder effect for the 235delC mutation, we analyzed single nucleotide polymorphisms in the vicinity of the GJB2 gene. Results were consistent with inheritance of the 235delC mutation from a common ancestor. The results of this study have important implications for genetic diagnostic testing for deafness in the Japanese population.
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Acknowledgements
We thank all the subjects who participated in the present project. We also thank Dr. Noriko Minami and Dr. Yumiko Hosoya (Iwate Medical University School of Medicine), Dr. Kyoko Nagai (Gunma University School of Medicine), and Dr. Tatsuo Matsunaga (National Tokyo Medical Center) for collecting families with the 235delC mutation. This work was supported by the Ministry of Health and Welfare, Japan (S.U.), and a Grant-in-Aid for Scientific Research from the Ministry of Education, Science and Culture of Japan (S.U.), the Flemish FWO (G.V.C.), and the University of Antwerp (G.V.C.). L.V.L. holds a research position with the Flemish FWO.
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Electronic database information: accession numbers and URLs for the data in this article are as follows:
GJB2-OMIM:121011, 220290 (DFNB1)
GenBank:M86849
HGMD:GJB2; http://www.iro.es/cx26deaf.html
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Ohtsuka, A., Yuge, I., Kimura, S. et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 112, 329–333 (2003). https://doi.org/10.1007/s00439-002-0889-x
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DOI: https://doi.org/10.1007/s00439-002-0889-x