ArticleMolecular vision2008
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.Japanese journal of ophthalmology · 2024Article
- Identification ofGenetics in medicine open · 2024Article
- Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?Journal of clinical medicine · 2022Review
- Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Human mutation · 2021Review
- BDNF and HSP gene polymorphisms and their influence on the progression of primary open-angle glaucoma in a Polish population.Archives of medical science : AMS · 2014Article
- A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response.Trends in molecular medicine · 2013Review
- Hepatocyte growth factor genetic variations and primary angle-closure glaucoma in the Han Chinese population.PloS one · 2013Article
- Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.Eye (London, England) · 2012Review
- Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.Molecular vision · 2011Article
- Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.Molecular vision · 2010Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo 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.
methodsOne-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.
resultsTwo 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.
conclusionsTwo 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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