{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T13:12:07Z","timestamp":1784034727955,"version":"3.55.0"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of <jats:italic>GJB2<\/jats:italic> gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried <jats:italic>GJB2<\/jats:italic> mutations. The <jats:italic>SLC26A4<\/jats:italic> gene mutations and relevant phenotype are analyzed in this study.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>One hundred and thirty-five deaf patients were included. The coding exons of <jats:italic>SLC26A4<\/jats:italic> gene were sequence analyzed in 111 patients, not including 22 patients carrying bi-allelic <jats:italic>GJB2<\/jats:italic> mutations or one patient carrying a known <jats:italic>GJB2<\/jats:italic> dominant mutation as well as one patient with <jats:italic>mtDNA<\/jats:italic> 1555A&gt;G mutation. All patients with <jats:italic>SLC26A4<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Twenty-six patients (19.26%, 26\/135) were found carrying <jats:italic>SLC26A4<\/jats:italic> mutation. Among them, 17 patients with bi-allelic <jats:italic>SLC26A4<\/jats:italic> mutations were all confirmed to have EVA or other inner ear malformation by CT scan. Nine patients were heterozygous for one <jats:italic>SLC26A4<\/jats:italic> mutation, including 3 confirmed to be EVA or EVA and Mondini dysplasia by CT scan. The most common mutation, IVS7-2A&gt;G, accounted for 58.14% (25\/43) of all <jats:italic>SLC26A4<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>In Inner Mongolia, China, mutations in <jats:italic>SLC26A4<\/jats:italic> gene account for about 12.6% (17\/135) of the patients with hearing loss. Together with <jats:italic>GJB2<\/jats:italic> (23\/135), <jats:italic>SLC26A4<\/jats:italic> 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 <jats:italic>SLC26A4<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1479-5876-6-74","type":"journal-article","created":{"date-parts":[[2009,1,27]],"date-time":"2009-01-27T07:14:38Z","timestamp":1233040478000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis"],"prefix":"10.1186","volume":"6","author":[{"given":"Pu","family":"Dai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyi","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deliang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuhui","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyang","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijun","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bailin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyi","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee-Jun C","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,11,30]]},"reference":[{"issue":"10","key":"304_CR1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta1100","volume":"1","author":"A Davis","year":"1997","unstructured":"Davis A, bamford J, wilson I, Ramkalawan T, Forshaw M, Wright S: A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment. 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