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Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma
PURPOSE: To examine the myocilin (MYOC) gene for mutations in Japanese patients with primary open-angle glaucoma (POAG) and to determine the phenotypes of the patients with the mutations. METHODS: One-hundred thirty-eight unrelated Japanese patients with POAG were studied. Genomic DNA was extracted...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268858/ https://www.ncbi.nlm.nih.gov/pubmed/18334962 |
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author | Mengkegale, MingGe Fuse, Nobuo Miyazawa, Akiko Takahashi, Kana Seimiya, Motohiko Yasui, Tomoki Tamai, Makoto Nakazawa, Toru Nishida, Kohji |
author_facet | Mengkegale, MingGe Fuse, Nobuo Miyazawa, Akiko Takahashi, Kana Seimiya, Motohiko Yasui, Tomoki Tamai, Makoto Nakazawa, Toru Nishida, Kohji |
author_sort | Mengkegale, MingGe |
collection | PubMed |
description | PURPOSE: To examine the myocilin (MYOC) gene for mutations in Japanese patients with primary open-angle glaucoma (POAG) and to determine the phenotypes of the patients with the mutations. METHODS: One-hundred thirty-eight unrelated Japanese patients with POAG were studied. Genomic DNA was extracted from leukocytes of peripheral blood, and the three coding exons including the intron-exon boundaries were amplified by polymerase chain reaction (PCR) and directly sequenced bi-directionally. RESULTS: Two sequence variants were identified, one novel non-synonymous amino acid change (p.Gln297His) and one reported synonymous amino acid change (p.Ala363Thr). These mutations were not detected in the 118 ethnically-matched controls. p.Gln297His was found in a 70-year-old man, who developed POAG at a late age, and his intraocular pressure was high. p.Ala363Thr was found in two cases, and both patients developed POAG at an early age and had high intraocular pressures that responded poorly to medical treatment. CONCLUSIONS: Two non-synonymous variants, p.Gln297His and p.Ala363Thr, indicate that they are involved in the pathogenesis of POAG. p.Ala363Thr has been found in another Japanese population and would be useful in genetic testing. |
format | Text |
id | pubmed-2268858 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-22688582008-03-20 Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma Mengkegale, MingGe Fuse, Nobuo Miyazawa, Akiko Takahashi, Kana Seimiya, Motohiko Yasui, Tomoki Tamai, Makoto Nakazawa, Toru Nishida, Kohji Mol Vis Research Article PURPOSE: To examine the myocilin (MYOC) gene for mutations in Japanese patients with primary open-angle glaucoma (POAG) and to determine the phenotypes of the patients with the mutations. METHODS: One-hundred thirty-eight unrelated Japanese patients with POAG were studied. Genomic DNA was extracted from leukocytes of peripheral blood, and the three coding exons including the intron-exon boundaries were amplified by polymerase chain reaction (PCR) and directly sequenced bi-directionally. RESULTS: Two sequence variants were identified, one novel non-synonymous amino acid change (p.Gln297His) and one reported synonymous amino acid change (p.Ala363Thr). These mutations were not detected in the 118 ethnically-matched controls. p.Gln297His was found in a 70-year-old man, who developed POAG at a late age, and his intraocular pressure was high. p.Ala363Thr was found in two cases, and both patients developed POAG at an early age and had high intraocular pressures that responded poorly to medical treatment. CONCLUSIONS: Two non-synonymous variants, p.Gln297His and p.Ala363Thr, indicate that they are involved in the pathogenesis of POAG. p.Ala363Thr has been found in another Japanese population and would be useful in genetic testing. Molecular Vision 2008-03-04 /pmc/articles/PMC2268858/ /pubmed/18334962 Text en http://creativecommons.org/licenses/by/3.0/ 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 work is properly cited. |
spellingShingle | Research Article Mengkegale, MingGe Fuse, Nobuo Miyazawa, Akiko Takahashi, Kana Seimiya, Motohiko Yasui, Tomoki Tamai, Makoto Nakazawa, Toru Nishida, Kohji Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title | Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title_full | Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title_fullStr | Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title_full_unstemmed | Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title_short | Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma |
title_sort | presence of myocilin sequence variants in japanese patients with open-angle glaucoma |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268858/ https://www.ncbi.nlm.nih.gov/pubmed/18334962 |
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