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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)

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

http://hdl.handle.net/10091/17661
2d35b8b6-3279-4fde-b363-4b9e76a81086
名前 / ファイル ライセンス アクション
H24Otsu1154_Miyagawa.pdf H24Otsu1154_Miyagawa.pdf (779.9 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2014-06-27
タイトル
言語 en
タイトル Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Miyagawa, Maiko

× Miyagawa, Maiko

WEKO 17332

Miyagawa, Maiko

Search repository
Nishio, Shin-ya

× Nishio, Shin-ya

WEKO 17333

Nishio, Shin-ya

Search repository
Usami, Shin-ichi

× Usami, Shin-ichi

WEKO 17334

Usami, Shin-ichi

Search repository
出版者
出版者 PUBLIC LIBRARY SCIENCE
引用
内容記述タイプ Other
内容記述 PLOS ONE. 7(8):e40366 (2012)
書誌情報 PLOS ONE

巻 7, 号 8, p. e40366, 発行日 2012-08-10
内容記述
内容記述タイプ Other
内容記述 信州大学博士(医学)・学位論文・平成25年1月30日授与(乙第1154号)・宮川 麻衣子
抄録
内容記述タイプ Abstract
内容記述 Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study. As a first screening, we performed Sanger sequencing using 304 probands compatible with recessive inheritance to find the pathologic mutations. Twenty-six possible mutations were detected to be pathologic in the first screening. For the second screening, using the probes for these 26 mutations, a large cohort of probands (n = 1396) was screened using Taqman amplification-based mutation analysis followed by Sanger sequencing. The hearing loss in a total of 52 families (10 homozygous, 13 compound heterogygous, and 29 heterozygous) was found to be caused by the CDH23 mutations. The majority of the patients showed congenital, high frequency involved, progressive hearing loss. Interestingly, some particular mutations cause late onset moderate hearing loss. The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
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 Article
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.0040366
関連名称
関連名称 10.1371/journal.pone.0040366
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
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