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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...

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Autores principales: Mengkegale, MingGe, Fuse, Nobuo, Miyazawa, Akiko, Takahashi, Kana, Seimiya, Motohiko, Yasui, Tomoki, Tamai, Makoto, Nakazawa, Toru, Nishida, Kohji
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
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.
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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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