A large GLC1C Greek family with a myocilin T377M mutation

Inheritance and phenotypic variability

Michael B. Petersen, George Kitsos, John R. Samples, N. Donna Gaudette, Effrosini Economou-Petersen, Renée Sykes, Kristal Rust, Maria Grigoriadou, George Aperis, Dongseok Choi, Konstantinos Psilas, Jamie E. Craig, Patricia L. Kramer, David A. Mackey, Mary Wirtz

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.

Original languageEnglish (US)
Pages (from-to)620-625
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume47
Issue number2
DOIs
StatePublished - Feb 2006

Fingerprint

Mutation
Genes
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 1
Glaucoma
Haplotypes
trabecular meshwork-induced glucocorticoid response protein
Exons
Genotype
High Pressure Liquid Chromatography
Phenotype

ASJC Scopus subject areas

  • Ophthalmology

Cite this

A large GLC1C Greek family with a myocilin T377M mutation : Inheritance and phenotypic variability. / Petersen, Michael B.; Kitsos, George; Samples, John R.; Gaudette, N. Donna; Economou-Petersen, Effrosini; Sykes, Renée; Rust, Kristal; Grigoriadou, Maria; Aperis, George; Choi, Dongseok; Psilas, Konstantinos; Craig, Jamie E.; Kramer, Patricia L.; Mackey, David A.; Wirtz, Mary.

In: Investigative Ophthalmology and Visual Science, Vol. 47, No. 2, 02.2006, p. 620-625.

Research output: Contribution to journalArticle

Petersen, MB, Kitsos, G, Samples, JR, Gaudette, ND, Economou-Petersen, E, Sykes, R, Rust, K, Grigoriadou, M, Aperis, G, Choi, D, Psilas, K, Craig, JE, Kramer, PL, Mackey, DA & Wirtz, M 2006, 'A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability', Investigative Ophthalmology and Visual Science, vol. 47, no. 2, pp. 620-625. https://doi.org/10.1167/iovs.05-0631
Petersen, Michael B. ; Kitsos, George ; Samples, John R. ; Gaudette, N. Donna ; Economou-Petersen, Effrosini ; Sykes, Renée ; Rust, Kristal ; Grigoriadou, Maria ; Aperis, George ; Choi, Dongseok ; Psilas, Konstantinos ; Craig, Jamie E. ; Kramer, Patricia L. ; Mackey, David A. ; Wirtz, Mary. / A large GLC1C Greek family with a myocilin T377M mutation : Inheritance and phenotypic variability. In: Investigative Ophthalmology and Visual Science. 2006 ; Vol. 47, No. 2. pp. 620-625.
@article{9a45467080ff4b33a7857ddd957a880d,
title = "A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability",
abstract = "PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.",
author = "Petersen, {Michael B.} and George Kitsos and Samples, {John R.} and Gaudette, {N. Donna} and Effrosini Economou-Petersen and Ren{\'e}e Sykes and Kristal Rust and Maria Grigoriadou and George Aperis and Dongseok Choi and Konstantinos Psilas and Craig, {Jamie E.} and Kramer, {Patricia L.} and Mackey, {David A.} and Mary Wirtz",
year = "2006",
month = "2",
doi = "10.1167/iovs.05-0631",
language = "English (US)",
volume = "47",
pages = "620--625",
journal = "Investigative Ophthalmology and Visual Science",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "2",

}

TY - JOUR

T1 - A large GLC1C Greek family with a myocilin T377M mutation

T2 - Inheritance and phenotypic variability

AU - Petersen, Michael B.

AU - Kitsos, George

AU - Samples, John R.

AU - Gaudette, N. Donna

AU - Economou-Petersen, Effrosini

AU - Sykes, Renée

AU - Rust, Kristal

AU - Grigoriadou, Maria

AU - Aperis, George

AU - Choi, Dongseok

AU - Psilas, Konstantinos

AU - Craig, Jamie E.

AU - Kramer, Patricia L.

AU - Mackey, David A.

AU - Wirtz, Mary

PY - 2006/2

Y1 - 2006/2

N2 - PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.

AB - PURPOSE. POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS. The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS. A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.

UR - http://www.scopus.com/inward/record.url?scp=33644865523&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33644865523&partnerID=8YFLogxK

U2 - 10.1167/iovs.05-0631

DO - 10.1167/iovs.05-0631

M3 - Article

VL - 47

SP - 620

EP - 625

JO - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

SN - 0146-0404

IS - 2

ER -