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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family membe...

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Autores principales: Arai, Yuuki, Maeda, Akiko, Hirami, Yasuhiko, Ishigami, Chie, Kosugi, Shinji, Mandai, Michiko, Kurimoto, Yasuo, Takahashi, Masayo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487330/
https://www.ncbi.nlm.nih.gov/pubmed/26161267
http://dx.doi.org/10.1155/2015/819760
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author Arai, Yuuki
Maeda, Akiko
Hirami, Yasuhiko
Ishigami, Chie
Kosugi, Shinji
Mandai, Michiko
Kurimoto, Yasuo
Takahashi, Masayo
author_facet Arai, Yuuki
Maeda, Akiko
Hirami, Yasuhiko
Ishigami, Chie
Kosugi, Shinji
Mandai, Michiko
Kurimoto, Yasuo
Takahashi, Masayo
author_sort Arai, Yuuki
collection PubMed
description The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family members were employed. Bioinformatics data from 1,208 Japanese individuals were used as controls. Molecular diagnosis was obtained by direct sequencing in a stepwise fashion utilizing one or two panels of 15 and 27 genes for retinitis pigmentosa patients. If a specific clinical diagnosis was suspected, direct sequencing of disease-specific genes, that is, ABCA4 for Stargardt disease, was conducted. Limited availability of intrafamily information and decreasing family size hampered identifying inherited patterns. Differential disease profiles with lower prevalence of Stargardt disease from European and North American populations were obtained. We found 205 sequence variants in 159 of 349 probands with an identification rate of 45.6%. This study found 43 novel sequence variants. In silico analysis suggests that 20 of 25 novel missense variants are pathogenic. EYS mutations had the highest prevalence at 23.5%. c.4957_4958insA and c.8868C>A were the two major EYS mutations identified in this cohort. EYS mutations are the most prevalent among Japanese patients with IRD.
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spelling pubmed-44873302015-07-09 Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations Arai, Yuuki Maeda, Akiko Hirami, Yasuhiko Ishigami, Chie Kosugi, Shinji Mandai, Michiko Kurimoto, Yasuo Takahashi, Masayo J Ophthalmol Research Article The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family members were employed. Bioinformatics data from 1,208 Japanese individuals were used as controls. Molecular diagnosis was obtained by direct sequencing in a stepwise fashion utilizing one or two panels of 15 and 27 genes for retinitis pigmentosa patients. If a specific clinical diagnosis was suspected, direct sequencing of disease-specific genes, that is, ABCA4 for Stargardt disease, was conducted. Limited availability of intrafamily information and decreasing family size hampered identifying inherited patterns. Differential disease profiles with lower prevalence of Stargardt disease from European and North American populations were obtained. We found 205 sequence variants in 159 of 349 probands with an identification rate of 45.6%. This study found 43 novel sequence variants. In silico analysis suggests that 20 of 25 novel missense variants are pathogenic. EYS mutations had the highest prevalence at 23.5%. c.4957_4958insA and c.8868C>A were the two major EYS mutations identified in this cohort. EYS mutations are the most prevalent among Japanese patients with IRD. Hindawi Publishing Corporation 2015 2015-06-16 /pmc/articles/PMC4487330/ /pubmed/26161267 http://dx.doi.org/10.1155/2015/819760 Text en Copyright © 2015 Yuuki Arai et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Arai, Yuuki
Maeda, Akiko
Hirami, Yasuhiko
Ishigami, Chie
Kosugi, Shinji
Mandai, Michiko
Kurimoto, Yasuo
Takahashi, Masayo
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title_full Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title_fullStr Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title_full_unstemmed Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title_short Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
title_sort retinitis pigmentosa with eys mutations is the most prevalent inherited retinal dystrophy in japanese populations
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487330/
https://www.ncbi.nlm.nih.gov/pubmed/26161267
http://dx.doi.org/10.1155/2015/819760
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