ArticleMolecular vision2007
Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.
Article in Molecular vision, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Clinical and genetic analysis of Ser341ProInternational journal of ophthalmology · 2020Article
- Screening ofMolecular biology research communications · 2018Article
- Comprehensive analysis of myocilin variants in east Indian POAG patients.Molecular vision · 2012Article
- Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.Molecular vision · 2012Article
- Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.Molecular vision · 2011Article
- Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.Molecular vision · 2011Article
- Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.Molecular vision · 2008Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGlaucoma can be defined as optic neuropathy leading to irreversible blindness if not treated in time. Primary open angle glaucoma (POAG) is the most common form of glaucoma. The myocilin (MYOC) gene has been found to mutate in both sporadic and familial cases of POAG worldwide. About 90% of these mutations have been seen to cluster at exon III of the gene. There are documented reports of mutations in the MYOC gene among POAG patients from different parts of India. The southernmost tip of the Indian subcontinent (Kanyakumari district) has remained isolated from all these studies. The aim of this study was to indicate or rule out the disease causative role of the MYOC gene mutations in these patients by screening the MYOC gene for mutations among POAG patients of the Kanyakumari district.
methodsOne hundred POAG patients from the Kanyakumari District of South India were recruited for the study. The MYOC gene was screened using the PCR-SSCP methodology followed by DNA sequencing. The sequences were analyzed using BLAST. Secondary structures of the amino acid sequences with a variation were predicted.
resultsTwo probable disease-causing variations (mutations), Ser331Thr and Pro370Leu, were each observed in one patient apiece. Two polymorphisms, (Tyr347Tyr and Thr325Thr) were also observed in the patients. Ser331Thr is a novel conservative change while Pro370Leu is a widely reported mutation with an associated severe disease phenotype.
conclusionsThe presence of the mutations in the patients suggests the causative role of the MYOC gene among POAG patients in the Kanyakumari district of India. The mutation frequency of 2% corresponds well with the other reports from India and other countries. However, the mutation rate reported from a population in the eastern part of India was much higher. Screening of patients from different parts of India is essential to estimate the overall mutation frequency. More functional studies on the MYOC gene are required to elucidate the pathophysiology of POAG.
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17417611PMC2649312W75606357What OpenQuestion holds
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