title: Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.
abstract: BACKGROUND
  Glaucoma is a major cause of irreversible blindness worldwide. There is evidence showing that a subset of the disease is genetically determined. In this study, we screened for mutations in chromosome 1q-linked open-angle glaucoma (GLC1A) in a Chinese family with primary open-angle glaucoma (POAG).
  
  
  METHODS
  A total of 23 members from five generations of a family were enrolled and underwent thorough ophthalmologic examinations. In addition, 200 unrelated healthy Chinese controls were also recruited as normal control. GLC1A gene was amplified by polymerase chain reaction, and DNA sequencing was performed to screen for mutations.
  
  
  RESULTS
  Six members were diagnosed as POAG, with severe clinical manifestations, and history of high intraocular pressures. The mean age of disease onset was 26.3 years. However, the others were asymptomatic. In six affected and three asymptomatic members, gene sequencing revealed a mutation c.C1456T in exon 3 of myocilin gene (MYOC). Furthermore, we also identified a novel mutation c.G322A in beta-1,4-galactosyltransferase 3 (B4GALT3) gene in all six affected and three asymptomatic members, which was not reported previously in POAG patients. The two newly identified variants were absent in other family members as well as controls.
  
  
  CONCLUSIONS
  The mutations c.1456C < T (p.L486F) in MYOC and c.322G < A (p.V108I) in B4GALT3 are likely responsible for the pathogenesis of POAG in this family.
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University; Department of Ophthalmology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China.
authors.forename: Rong-Feng
authors.initials: RF
authors.lastname: Liao
authors.affiliation: Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200092, China.
authors.forename: Zi-Lin
authors.initials: ZL
authors.lastname: Zhong
authors.affiliation: Department of Ophthalmology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, China.
authors.forename: Min-Jie
authors.initials: MJ
authors.lastname: Ye
authors.affiliation: Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200092, China.
authors.forename: Li-Yun
authors.initials: LY
authors.lastname: Han
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui 230032, China.
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Ye
authors.affiliation: Department of Ophthalmology of Shanghai Tenth People's Hospital and Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200092, China.
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D019295:Computational Biology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009237:N-Acetyllactosamine Synthase / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D055815:Young Adult; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D009237:N-Acetyllactosamine Synthase; D000099179:Myocilin