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TECTA遺伝子変異により発症した非症候群性難聴家系における聴力像の検討
http://hdl.handle.net/10271/00004129
http://hdl.handle.net/10271/0000412902a89f44-dce2-4bfb-a79e-d6de241008f6
| 名前 / ファイル | ライセンス | アクション |
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耳鼻臨床補冊-156-47.pdf (758.6 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||
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| 公開日 | 2022-04-08 | |||||||||
| タイトル | ||||||||||
| タイトル | TECTA遺伝子変異により発症した非症候群性難聴家系における聴力像の検討 | |||||||||
| 言語 | ja | |||||||||
| タイトル | ||||||||||
| タイトル | Evaluation of Auditory Findings in Subjects with Autosomal Dominant Non-Syndromic Hearing Loss Caused by a TECTA Mutation | |||||||||
| 言語 | en | |||||||||
| 言語 | ||||||||||
| 言語 | jpn | |||||||||
| キーワード | ||||||||||
| 主題 | hearing loss | |||||||||
| キーワード | ||||||||||
| 主題 | TECTA | |||||||||
| キーワード | ||||||||||
| 主題 | mutation | |||||||||
| キーワード | ||||||||||
| 主題 | WFS1 | |||||||||
| キーワード | ||||||||||
| 主題 | KCNQ4 | |||||||||
| 資源タイプ | ||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||||
| 資源タイプ | journal article | |||||||||
| 著者 |
中西, 啓
× 中西, 啓
× 峯田, 周幸
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| 書誌情報 |
耳鼻咽喉科臨床 補冊 = Practica oto-rhino-laryngologica. Suppl. 巻 156, p. 47-50, 発行日 2021-02-01 |
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| 出版者 | ||||||||||
| 出版者 | 耳鼻咽喉科臨床学会 | |||||||||
| 出版者 | ||||||||||
| 出版者 | The Society of Practical Otolaryngology | |||||||||
| 権利 | ||||||||||
| 権利情報 | 出版者の許諾を得て掲載 | |||||||||
| 抄録 | ||||||||||
| 内容記述タイプ | Abstract | |||||||||
| 内容記述 | Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically and clinically heterogeneous. To date, 48 causative genes have been identified. Of these genes, TECTA, WFS1 or KCNQ4 mutations are the most frequently identified in subjects with ADNSHL in Japan. We performed mutation analysis of TECTA, WFS1 and KCNQ4 in a Japanese family with ADNSHL, and identified a heterozygous missense mutation in TECTA. The missense mutation was located in the zonadhesin domain in the alpha-tectorin protein encoded by the gene. The affected family members, including 6-year-old girl, 59-year-old grandmother and 33-year-old father, showed bilateral moderate to severe sensorineural hearing loss. Their audiogram patterns were of the symmetric and descending type. The average annual threshold deterioration of the girl was 0.5 dB/year and that of her father was 0.5 dB/year, indicating that their hearing loss was stable. Their auditory findings were consistent with the established genotype-phenotype correlation of missense mutations in TECTA: missense mutations in the zonadhesin domain cause high-frequency hearing loss; when amino acid residues other than cysteine are affected, the hearing loss is stable. | |||||||||
| 注記 | ||||||||||
| 内容記述 | 浜松医科大学医学部耳鼻咽喉科・頭頸部外科学教室 峯田周幸教授退任記念論文集〜症例から学ぶ〜 | |||||||||
| 注記 | ||||||||||
| 内容記述 | Festschrift for Professor Hiroyuki Mineta In Hornor of His Retirement as Chairman of Hamamatsu University School of Medicine | |||||||||
| ISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 0912-1870 | |||||||||
| EISSN | ||||||||||
| 収録物識別子タイプ | ISSN | |||||||||
| 収録物識別子 | 2185-1557 | |||||||||
| 医中誌論文ID | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | ICHUSHI | |||||||||
| 関連識別子 | 2021267589 | |||||||||
| 出版社DOI | ||||||||||
| 関連タイプ | isIdenticalTo | |||||||||
| 識別子タイプ | DOI | |||||||||
| 関連識別子 | 10.5631/jibirinsuppl.156.47 | |||||||||
| 著者版フラグ | ||||||||||
| 出版タイプ | VoR | |||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
