Mutation analysis of common deafness genes among 1,201 patients with non‐syndromic hearing loss in Shanxi Province
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- Yongan Zhou
- Shanxi Medical University Second Affiliated Hospital Taiyuan Shanxi China
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- Chao Li
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Min Li
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Zhonghua Zhao
- Institute of Biomedical Sciences Shanxi University Taiyuan Shanxi China
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- Shuxiong Tian
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Hou Xia
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Peixian Liu
- Shanxi Medical University Second Affiliated Hospital Taiyuan Shanxi China
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- Yaxin Han
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Ruirui Ren
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Jianping Chen
- The Graduate School Shanxi Medical University Taiyuan Shanxi China
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- Caihong Jia
- Shanxi Medical University Second Affiliated Hospital Taiyuan Shanxi China
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- Wei Guo
- Xinzhou Traditional Chinese Medicine Hospital Xinzhou Shanxi China
説明
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Hearing impairment is one of most frequent birth defects, which affects nearly 1 in every 1,000 live births. However, the molecular etiology of non‐syndromic deafness in China is not well studied. Here, we have investigated the presence of mutations in three genes commonly mutated in non‐syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>In total, 1,201 unrelated non‐syndromic deafness patients and 300 healthy individuals were enrolled. The hearing ability was confirmed by audiologic evaluation. Three major deafness‐related genes (<jats:italic>GJB2, SLC26A4 (PDS), </jats:italic>and <jats:italic>mtDNA 12S rRNA</jats:italic>) of all individuals enrolled were analyzed by Sanger sequencing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The results showed that <jats:italic>GJB2</jats:italic> mutations accounted for 21.23% (255/1,201) in the patient group, with c.235delC, a hotspot mutation, accounting for 10.99% (132/1,201). Moreover, 11 new <jats:italic>GJB2</jats:italic> mutations were identified. <jats:italic>SLC26A4</jats:italic> mutations accounted for 9.33% (112/1,201) in the patient group, with IVS7‐2A>G as the most prevalent mutation accounting for 4.75% (57/1,201). In addition, 15 patients (1.25%) were found to carry <jats:italic>mtDNA 12S rRNA</jats:italic> c.1555A>G mutation, while only two cases had the <jats:italic>mtDNA 12S rRNA</jats:italic> c.1494C>T.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>In our research, it was found that c.235delC in <jats:italic>GJB2</jats:italic> and c.919‐2A>G (IVS7‐2A>G) in <jats:italic>SLC26A4</jats:italic> were the highest frequency pathogenic variants in Shanxi Province. Taken together, our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment.</jats:p></jats:sec>
収録刊行物
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- Molecular Genetics & Genomic Medicine
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Molecular Genetics & Genomic Medicine 7 (3), 2019-01-28
Wiley
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詳細情報 詳細情報について
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- CRID
- 1360579820257160320
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- DOI
- 10.1002/mgg3.537
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- ISSN
- 23249269
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- データソース種別
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- Crossref