Publication: GJB2 (Connexin 26) mutations and childhood deafness in Thailand
Issued Date
2001-01-01
Resource Type
ISSN
15317129
Other identifier(s)
2-s2.0-0035180818
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Mahidol University
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SCOPUS
Bibliographic Citation
Otology and Neurotology. Vol.22, No.6 (2001), 858-861
Suggested Citation
Takayuki Kudo, Katsuhisa Ikeda, Takeshi Oshima, Shigeo Kure, Maliwan Tammasaeng, Suchitra Prasansuk, Yoichi Matsubara GJB2 (Connexin 26) mutations and childhood deafness in Thailand. Otology and Neurotology. Vol.22, No.6 (2001), 858-861. doi:10.1097/00129492-200111000-00025 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26892
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Title
GJB2 (Connexin 26) mutations and childhood deafness in Thailand
Abstract
Hypothesis: The purpose of this study was to elucidate whether GJB2 mutations are responsible for childhood deafness in Southeast Asia. Background: GJB2 mutations are responsible for a large part of childhood deafness in many countries. In Whites, there is a common mutation (35delG) that accounts for about 70 to 80% of the GJB2 mutations. Previously, we and others reported a common GJB2 mutation (235delC) in Japanese patients with prelingual deafness. The association of the 235delC mutation with a single haplotype suggested a founder effect of the mutation. Methods: We analyzed the GJB2 gene in 17 deaf patients from 12 unrelated families in Thailand. Genomic DNA was extracted from peripheral lymphocytes of each patient and the entire coding region of the GJB2 gene was sequenced. Results: GJB2 mutations were found in 4 patients in 3 families. Patient 1 was a homozygote of 235delC. Patient 2 was a compound heterozygote of 235delC and W24X (7IG → A). Patient 3A and 3B (in 1 family) were heterozygotes of a novel mutation M34L (100A → T). Conclusion: The 235delC mutation may be widely distributed in Asian countries outside of Japan.