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dc.contributor.authorDai, Pu
dc.contributor.authorYuan, Yongyi
dc.contributor.authorHuang, Deliang
dc.contributor.authorZhu, Xiuhui
dc.contributor.authorYu, Fei
dc.contributor.authorKang, Dongyang
dc.contributor.authorYuan, Huijun
dc.contributor.authorHan, Dongyi
dc.contributor.authorWong, Lee-Jun C
dc.contributor.authorWu, Bai-Lin
dc.date.accessioned2012-02-19T23:22:15Z
dc.date.issued2008
dc.identifier.citationDai, Pu, Yongyi Yuan, Deliang Huang, Xiuhui Zhu, Fei Yu, Dongyang Kang, Huijun Yuan, Bailin Wu, Dongyi Han, and Lee-Jun C Wong. 2008. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Journal of Translational Medicine 6: 74.en_US
dc.identifier.issn1479-5876en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:8191176
dc.description.abstractBackground: The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. The SLC26A4 gene mutations and relevant phenotype are analyzed in this study. Methods: One hundred and thirty-five deaf patients were included. The coding exons of SLC26A4 gene were sequence analyzed in 111 patients, not including 22 patients carrying bi-allelic GJB2 mutations or one patient carrying a known GJB2 dominant mutation as well as one patient with mtDNA 1555A>G mutation. All patients with SLC26A4 mutations or variants were subjected to high resolution temporal bone CT scan and those with confirmed enlarged vestibular aqueduct and/or other inner ear malformation were then given further ultrasound scan of thyroid and thyroid hormone assays. Results: Twenty-six patients (19.26%, 26/135) were found carrying SLC26A4 mutation. Among them, 17 patients with bi-allelic SLC26A4 mutations were all confirmed to have EVA or other inner ear malformation by CT scan. Nine patients were heterozygous for one SLC26A4 mutation, including 3 confirmed to be EVA or EVA and Mondini dysplasia by CT scan. The most common mutation, IVS7-2A>G, accounted for 58.14% (25/43) of all SLC26A4 mutant alleles. The shape and function of thyroid were confirmed to be normal by thyroid ultrasound scan and thyroid hormone assays in 19 of the 20 patients with EVA or other inner ear malformation except one who had cystoid change in the right side of thyroid. No Pendred syndrome was diagnosed. Conclusion: In Inner Mongolia, China, mutations in SLC26A4 gene account for about 12.6% (17/135) of the patients with hearing loss. Together with GJB2 (23/135), SLC26A4 are the two most commonly mutated genes causing deafness in this region. Pendred syndrome is not detected in this deaf population. We established a new strategy that detects SLC26A4 mutations prior to the temporal bone CT scan to find EVA and inner ear malformation patients. This model has a unique advantage in epidemiologic study of large deaf population.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi://10.1186/1479-5876-6-74en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630943/pdf/en_US
dash.licenseLAA
dc.titleMolecular Etiology of Hearing Impairment in Inner Mongolia: Mutations in SLC26A4 Gene and Relevant Phenotype Analysisen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalJournal of Translational Medicineen_US
dash.depositing.authorWu, Bai-Lin
dc.date.available2012-02-19T23:22:15Z
dash.affiliation.otherHMS^Pathologyen_US
dc.identifier.doi10.1186/1479-5876-6-74*
dash.authorsorderedfalse
dash.contributor.affiliatedWu, Bai-Lin


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