title: Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
abstract: OBJECTIVE
  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.
authors.affiliation: 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.
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.affiliation: 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.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Huang
authors.affiliation: 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.
authors.forename: Xiulan
authors.initials: X
authors.lastname: Li
authors.affiliation: 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.
authors.forename: Zimeng
authors.initials: Z
authors.lastname: Ye
authors.affiliation: 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.
authors.forename: Ping
authors.initials: P
authors.lastname: Shuai
authors.affiliation: 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.
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.affiliation: Department of Microbiology & Immunology, North Sichuan Medical College, Nanchong, Sichuan, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Chen
authors.affiliation: Qunli Surgical Operating Room, First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Jiaxing
authors.initials: J
authors.lastname: Xu
authors.affiliation: 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.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.affiliation: 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: lufangfang@126.com.
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.affiliation: 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: gong2007@hotmail.com.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin
keywords: MYOC; Mutation; POAG