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To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. 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  1. 050 医学部, 大学院医学系研究科
  2. 0507 学位論文
  3. 博士(医学)

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異)

http://hdl.handle.net/10091/00020712
04c0924c-4ecc-4825-9d83-8d4bf66a3818
名前 / ファイル ライセンス アクション
13MH013D_yoshi.pdf 内容の要旨 (129.3 kB)
13MH013D_shinsa.pdf 審査結果の要旨 (93.7 kB)
13MH013D_ronbun.pdf 博士論文の全文 (1.7 MB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2018-06-28
タイトル
言語 en
タイトル POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異)
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_db06
タイプ doctoral thesis
著者 北野, 友裕

× 北野, 友裕

WEKO 105904

北野, 友裕

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出版者
出版者 信州大学
引用
内容記述タイプ Other
内容記述 北野 友裕. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異). 信州大学, 2017, 博士論文.
書誌情報
発行日 2017-03-31
学位授与番号
学位授与番号 13601甲第1106号
学位授与年月日
学位授与年月日 2017-03-31
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名
学位授与機関名 信州大学(Shinshu university)
学位の区分
Doctoral
学位の分野
医学
学位の報告番号
甲第1106号
内容記述
内容記述タイプ Other
内容記述 雑誌に発表。PLOS ONE. 12(5):e0177636 (2017); doi:10.1371/journal.pone.0177636.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Thesis
PubMed
関連識別子
識別子タイプ PMID
関連識別子 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=28545070
関連名称
関連名称 28545070
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0177636
関連名称
関連名称 10.1371/journal.pone.0177636
権利
権利情報 © 2017 Kitano et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. / Kitano T, Miyagawa M, Nishio S-y, Moteki H, Oda K, Ohyama K, et al. (2017) POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS ONE 12(5): e0177636. https://doi.org/10.1371/journal.pone.0177636
出版タイプ
出版タイプ NA
出版タイプResource http://purl.org/coar/version/c_be7fb7dd8ff6fe43
WoS
Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000401487700059
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