Single Nucleotide Polymorphism of MYOC Affected the Severity of Primary Open Angle Glaucoma

Overview

Journal Int J Ophthalmol

Specialty Ophthalmology

Date 2013 Jul 5

PMID 23826516

Citations 7

Authors

Xiao-Min Zhou

Yan Yin

Ning Fan

Hong-Bo Cheng

Xiao-Hong Li

Yun Wang

Wen-Han Yu

Su-Ping Cai

Xu-Yang Liu

Affiliations

Soon will be listed here.

Abstract

Aim: To detect the mutations in two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese family with primary open angle glaucoma (POAG).

Methods: The family was composed of three members, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing.

Results: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile-onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G>A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family.

Conclusion: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile-onset POAG patient who presented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.

Citing Articles

Identification of mutation of MYOC (c.1099G>A), a pedigree pathogenic gene of juvenile open angle glaucoma (JOAG): A case report.

Zheng J, Zhao D, Li Z, Feng C, Song Z, Li R Medicine (Baltimore). 2025; 103(47):e40555.

PMID: 39809167 PMC: 11596615. DOI: 10.1097/MD.0000000000040555.

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Scelsi H, Barlow B, Saccuzzo E, Lieberman R Hum Mutat. 2021; 42(8):903-946.

PMID: 34082484 PMC: 8295199. DOI: 10.1002/humu.24238.

Screening of Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients.

Kaur A, Vanita V, Singh J Mol Biol Res Commun. 2019; 7(4):181-186.

PMID: 30788381 PMC: 6363938. DOI: 10.22099/mbrc.2018.30630.1344.

A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.

Nazir S, Mukhtar M, Shahnawaz M, Farooqi S, Fatima N, Mehmood R PLoS One. 2018; 13(4):e0195157.

PMID: 29630620 PMC: 5890997. DOI: 10.1371/journal.pone.0195157.

A recurrent G367R mutation in associated with juvenile open angle glaucoma in a large Chinese family.

Yao Y, Wang Y, Fang W, Zhang L, Yang J, Zhu Y Int J Ophthalmol. 2018; 11(3):369-374.

PMID: 29600168 PMC: 5861224. DOI: 10.18240/ijo.2018.03.04.

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