Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

John H Fingert; Elise Héon; Jeffrey M Liebmann; Tetsuya Yamamoto; Jamie E Craig; Julian Rait; Kazuhide Kawase; Sek-Tien Hoh; Yvonne M Buys; Joanne Dickinson; Robin R Hockey; Donna Williams-Lyn; Graham Trope; Yoshiaki Kitazawa; Robert Ritch; David A Mackey; Wallace L.M Alward; Val C Sheffield; Edwin M Stone

doi:10.1093/hmg/8.5.899

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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

Journal article

Open access

Peer reviewed

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

John H Fingert, Elise Héon, Jeffrey M Liebmann, Tetsuya Yamamoto, Jamie E Craig, Julian Rait, Kazuhide Kawase, Sek-Tien Hoh, Yvonne M Buys, Joanne Dickinson, …

Human molecular genetics, Vol.8(5), pp.899-905

05/1999

DOI: 10.1093/hmg/8.5.899

PMID: 10196380

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Abstract

A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial groups. There were 1284 patients from primarily Caucasian populations in Iowa (727), Australia (390) and Canada (167). A group of 312 African American patients was from New York City and 107 Asian patients from Japan. Overall, 61 different myocilin sequence variations were identified. Of the 61 variations, 21 were judged to be probable disease-causing mutations. The number of probands found to harbor such mutations in each population was: Iowa 31/727 (4.3%), African Americans from New York City 8/312 (2.6%), Japan 3/107 (2.8%), Canada 5/167 (3.0%), Australia 11/390 (2.8%) and overall 58/1703 (3. 4%). Overall, 16 (76%) of 21 mutations were found in only one population. The most common mutation observed, Gln368Stop, was found in 27/1703 (1.6%) glaucoma probands and was found at least once in all groups except the Japanese. Studies of genetic markers flanking the myocilin gene suggest that most cases of the Gln368Stop mutations are descended from a common founder. Although the specific mutations found in each of the five populations were different, the overall frequency of myocilin mutations was similar ( approximately 2-4%) in all populations, suggesting that the increased rate of glaucoma in African Americans is not due to a higher prevalence of myocilin mutations.

Japan

Genetic Markers

Canada

Mutation

Australia

Cytoskeletal Proteins

Glycoproteins - genetics

Genetics, Population

European Continental Ancestry Group - genetics

Humans

Asian Continental Ancestry Group - genetics

Polymorphism, Genetic

Genetic Variation

African Continental Ancestry Group - genetics

Eye Proteins - genetics

Glaucoma - genetics

Details

Title: Subtitle: Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
Creators: John H Fingert - Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City, IA 52242, USA
Elise Héon
Jeffrey M Liebmann
Tetsuya Yamamoto
Jamie E Craig
Julian Rait
Kazuhide Kawase
Sek-Tien Hoh
Yvonne M Buys
Joanne Dickinson
Robin R Hockey
Donna Williams-Lyn
Graham Trope
Yoshiaki Kitazawa
Robert Ritch
David A Mackey
Wallace L.M Alward
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.8(5), pp.899-905
DOI: 10.1093/hmg/8.5.899
PMID: 10196380
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: EY08905 / NEI NIH HHS EY10564 / NEI NIH HHS EY02477 / NEI NIH HHS
Language: English
Date published: 05/1999
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979932302771

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