Yin Yang1, Yi Shi2, Xiaofang Huang3, Xiulan Li4, Zimeng Ye5, Ping Shuai2, Chao Qu6, Rong Chen7, Jiaxing Xu8, Zhenglin Yang2, Fang Lu9, Bo Gong10. 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: lufangfang@126.com. 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: gong2007@hotmail.com.
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.
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.
Authors: Emmanuelle Souzeau; Kathryn P Burdon; Bronwyn Ridge; Andrew Dubowsky; Jonathan B Ruddle; Jamie E Craig Journal: BMC Med Genet Date: 2016-04-14 Impact factor: 2.103