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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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2015/819760 |
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| author | Yuuki Arai Akiko Maeda Yasuhiko Hirami Chie Ishigami Shinji Kosugi Michiko Mandai Yasuo Kurimoto Masayo Takahashi |
| author_facet | Yuuki Arai Akiko Maeda Yasuhiko Hirami Chie Ishigami Shinji Kosugi Michiko Mandai Yasuo Kurimoto Masayo Takahashi |
| author_sort | Yuuki Arai |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-cdb87a9a90394065b49685fa3720327e |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-cdb87a9a90394065b49685fa3720327e2025-02-03T01:32:40ZengWileyJournal of Ophthalmology2090-004X2090-00582015-01-01201510.1155/2015/819760819760Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese PopulationsYuuki Arai0Akiko Maeda1Yasuhiko Hirami2Chie Ishigami3Shinji Kosugi4Michiko Mandai5Yasuo Kurimoto6Masayo Takahashi7Laboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe 650-0047, JapanDepartment of Ophthalmology, Case Western Reserve University, Cleveland, OH 44124, USAInstitute of Biomedical Research Innovation Hospital, Kobe 650-0047, JapanLaboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe 650-0047, JapanDepartment of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, JapanLaboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe 650-0047, JapanKobe City Medical Center General Hospital, Kobe 650-0047, JapanLaboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe 650-0047, JapanThe 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.http://dx.doi.org/10.1155/2015/819760 |
| spellingShingle | Yuuki Arai Akiko Maeda Yasuhiko Hirami Chie Ishigami Shinji Kosugi Michiko Mandai Yasuo Kurimoto Masayo Takahashi Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations Journal of Ophthalmology |
| 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 |
| url | http://dx.doi.org/10.1155/2015/819760 |
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