Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

Zhao, Yang

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Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

http://hdl.handle.net/10271/2768

名前 / ファイル	ライセンス	アクション
論文本文 (624.7 kB)

Item type

学位論文 / Thesis or Dissertation(1)

公開日

2015-10-06

タイトル

Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

言語

eng

キーワード

主題

Retinitis pigmentosa

キーワード

主題

autosomal recessive

キーワード

主題

USH2A gene

キーワード

主題

Japanese patient

資源タイプ

資源タイプ識別子

http://purl.org/coar/resource_type/c_db06

資源タイプ

doctoral thesis

アクセス権

open access

アクセス権URI

http://purl.org/coar/access_right/c_abf2

その他のタイトル

非症候群性の常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析

著者

Zhao, Yang

書誌情報

発行日 2013-09-20

抄録

内容記述タイプ

Abstract

内容記述

Objective: To identify disease-causing USH2A (Usher syndrome 2A) gene mutations in Japanese patients with non-syndromic retinitis pigmentosa (RP).
Design: Case series. Participants: Hundred unrelated Japanese patients with no systemic manifestations of RP were identified, with the exclusion of families with obvious autosomal dominant inheritance. From these 100 patients, 18 RP patients with very likely pathogenic EYS (eyes shut homolog) gene mutations were excluded; finally, 82 patients were included in the study. The ophthalmological data of previously reported 13 unrelated Japanese patients with Usher syndrome (USH) by USH2A mutations were also collected.
Methods: To determine the prevalence of USH2A gene mutations, all 72 exons were screened for mutations by polymerase chain reaction amplification. The phenotype analysis was based on ophthalmic examination and audiograms.
Main Outcome Measures: DNA sequence variants, visual acuity, visual field assessments using Goldmann kinetic perimetry, optical coherence tomography images, and audiograms.
Results: Mutation analysis of the USH2A gene revealed 5 very likely pathogenic mutations in 4 patients, 1 of whom did not have another possible pathogenic mutation. These very likely pathogenic mutations consisted of a deletion mutation, 2 splicing mutations, and 2 missense mutations. In addition, we also identified 3 possible pathogenic mutations in 3 individual patients. All the 4 patients with 1 or 2 very likely pathogenic mutations and 13 USH patients with USH2A mutations exhibited typical clinical features of RP, with the central visual acuity preserved relatively well up to their thirties.
Conclusions: The spectrum of USH2A gene mutations among Japanese non-syndromic RP patients largely differs from that among European or North American population. Considering only 1 or 2 deleterious mutations, the observed prevalence of distinct USH2A gene mutations among Japanese arRP patients is 4% (4/100).

言語

学位名

博士（医学）

学位の区分

内容記述

doctoral

学位の分野

内容記述

医学系研究科

学位授与機関

学位授与機関識別子Scheme

kakenhi

学位授与機関識別子

13802

学位授与機関名

浜松医科大学

学位授与年月日

2013-09-20

学位授与番号

甲第660号

著者版フラグ

出版タイプ

出版タイプResource

http://purl.org/coar/version/c_ab4af688f83e57aa

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2023-06-20 17:05:12.428497

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Mutation analysis of the USH2A gene in Japanese patients with non-syndromic autosomal recessive retinitis pigmentosa

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