title: Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
abstract: Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open-angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was extracted from the venous blood of 12 family members, and of 100 healthy individuals. The mode of inheritance was determined by the pedigree analysis. The third exon and its flanking introns of myocilin (MYOC) were amplified, and quantitative polymerase chain reaction (qPCR) products were sequenced. The restriction fragment length polymorphism analysis was performed on samples from the 12 family members and 100 normal controls. The predicted effects of the detected variants on the secondary structure of the MYOC protein were analyzed by the Garnier-Osguthorpe-Robson method. In this family, three members were diagnosed with POAG, and one member with ocular hypertension. The mode of inheritance of the family was autosomal dominant with six members being genetically affected. The heterozygous mutation was identified in the third exon of MYOC that revealed a T → C transition at position 1021 (p.S341P), which switched serine (Ser) to proline (Pro). This is a missense mutation eliminating a CviKI-1 restriction site that segregated the affected members. Secondary structure prediction of p.S341P suggested that the MYOC protein was misfolded. Ser341Pro MYOC mutation was detected in the family with POAG. The clinical and genetic characteristics of this mutation require further investigation. The mutation spectrum of MYOC may be expanded for a better diagnosis and treatment for POAG patients.
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China.
authors.forename: Fengyun
authors.initials: F
authors.lastname: Wang
authors.affiliation: Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing 100730, P.R. China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China.
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China.
authors.forename: Bo
authors.initials: B
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China.
authors.forename: Li
authors.initials: L
authors.lastname: Lin
authors.affiliation: Department of Ophthalmology, Zhujing Hospital, Nanfang Medical University, Guangzhou, Guangdong 510515, P.R. China.
authors.forename: Xiaohe
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital, Henan University of Science and Technology, Luoyang, Henan 471003, P.R. China.
authors.forename: Jiping
authors.initials: J
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006023:Glycoproteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D017433:Protein Structure, Secondary; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin