Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma

Yin Yang; Yi Shi; Xiaofang Huang; Xiulan Li; Zimeng Ye; Ping Shuai; Chao Qu; Rong Chen; Jiaxing Xu; Zhenglin Yang; Fang Lu; Bo Gong

doi:10.1016/j.gene.2015.06.042

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma

Gene. 2015 Oct 25;571(2):188-93. doi: 10.1016/j.gene.2015.06.042. Epub 2015 Jun 19.

Authors

Yin Yang¹, Yi Shi², Xiaofang Huang³, Xiulan Li⁴, Zimeng Ye⁵, Ping Shuai², Chao Qu⁶, Rong Chen⁷, Jiaxing Xu⁸, Zhenglin Yang², Fang Lu⁹, Bo Gong¹⁰

Affiliations

¹ Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; Department of Ophthalmology, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
² Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
³ Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
⁴ Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
⁵ Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; College of Life Science and Engineering, Southwest Jiaotong University, Chengdu, Sichuan, China.
⁶ Department of Ophthalmology, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
⁷ Department of Microbiology & Immunology, North Sichuan Medical College, Nanchong, Sichuan, China.
⁸ Qunli Surgical Operating Room, First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
⁹ Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Electronic address: [email protected].
¹⁰ Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. Electronic address: [email protected].

PMID: 26095806
DOI: 10.1016/j.gene.2015.06.042

Abstract

Purpose: The myocilin (MYOC) gene has been shown to be related to primary open-angle glaucoma (POAG). This study was aimed to detect the mutations in MYOC in a Chinese family with POAG.

Methods: A family with four members, the parents, a son and a daughter, was enrolled in this study. All members of the family underwent the complete ophthalmologic examinations. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of MYOC was amplified by polymerase chain reaction (PCR), followed by direct DNA sequencing.

Results: The son, who was the proband of this family, was diagnosed as early-onset POAG in both eyes. His mother was diagnosed as POAG ten years ago. A novel heterozygous missense mutation c.761C<G (p.P254R) in the MYOC gene, was identified as being co-segregated with the phenotype of this family. This mutation was detected in the two affected patients, but not present in the other normal family members or 384 normal controls.

Conclusions: This study provides a mutation spectrum of MYOC resulting in POAG development in a Chinese population, which may help to better understand the molecular pathogenesis and clinical diagnosis of MYOC-associated POAG.

Keywords: MYOC; Mutation; POAG.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People / genetics
China
Cytoskeletal Proteins / genetics*
Eye Proteins / genetics*
Family
Female
Genetic Predisposition to Disease / ethnology
Glaucoma, Open-Angle / ethnology
Glaucoma, Open-Angle / genetics*
Glycoproteins / genetics*
Heterozygote
Humans
Male
Middle Aged
Mutation, Missense*
Pedigree
Polymorphism, Single Nucleotide

Substances

Cytoskeletal Proteins
Eye Proteins
Glycoproteins
trabecular meshwork-induced glucocorticoid response protein