ArticleMolecular vision2008
Two novel myocilin mutations in a Chinese family with primary 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 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?Journal of clinical medicine · 2022Review
- Clinical and genetic analysis of Ser341ProInternational journal of ophthalmology · 2020Article
- Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.International journal of molecular medicine · 2015Article
- 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
- 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the genetic linkage of primary open-angle glaucoma (POAG) in a Chinese family.
methodsWe have screened for myocilin (MYOC) gene mutations in a glaucoma family of five generations. There are fifty-six members of whom 11 were confirmed to have POAG , two with ocular hypertension were considered as POAG suspect, and the remaining 43 were asymptomatic. We also recruited 200 unrelated healthy Chinese subjects as normal control. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to identify mutations in the three exons of MYOC. Presymptomatic diagnoses were made for the family members seeking consultation based on the results of both clinical examination and genetic analysis.
resultsAmong three allelic variants identified in this pedigree (Pro13Leu [38 C-->T], Arg76Lys [227G-->A], and Gln337Stop [1009C del]), Pro13Leu and Gln337Stop were reported to be novel mutations while Arg76Lys has been previously documented. Our results show that all 11 POAG patients carry the Gln337Stop mutation and that four POAG patients and one POAG suspect (V:2) were found to have the Pro13Leu mutation. In addition, Arg76Lys polymorphism was identified in two patients and a POAG suspect (V:5).
conclusionsPro13Leu and Gln337Stop mutations of MYOC are likely responsible for the etiology of POAG in this pedigree, but the causative mechanism needs further research.
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18776955PMC2530518W1544935083What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.