title: Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.
abstract: OBJECTIVE
  To identify the prevalence of myocilin gene mutations in a UK glaucoma cohort.
  
  
  METHODS
  Primary open-angle (POAG) and normal tension glaucoma patients were recruited from the Southampton University Hospital Trust Eye Clinic and satellite regional glaucoma clinics. Phenotype data relating to disease history and other potential risk factors were recorded and blood samples collected for each consenting participant. Point mutation analysis of the myocilin gene was carried out using six overlapping PCR fragments covering the entire coding sequence of the gene. A total of 316 POAG samples were examined of which 7 (2.2 %) tested positive for disease-causing mutations in this gene. One of these seven non-synonymous mutations represented a previously unreported amino-acid substitution of cysteine for arginine at codon 296 (p.R296C) of the myocilin protein.
  
  
  CONCLUSIONS
  This study identifies a 2.2% prevalence of myocilin mutations in a cohort of ethnically homogenous glaucoma patients selected from a UK ophthalmic clinic. A novel myocilin mutation is also described. This study identifies that myocilin genetic screening is feasible in NHS glaucoma clinics for genetic counselling and cascade testing of relatives of patients affected by myocilin glaucoma.
authors.affiliation: Genetic Epidemiology and Bioinformatics Group, Human Genetics Division (Mp 808), Southampton General Hospital SO16 6YD, University of Southampton, Southampton, UK.
authors.forename: S
authors.initials: S
authors.lastname: Ennis
authors.forename: J
authors.initials: J
authors.lastname: Gibson
authors.forename: H
authors.initials: H
authors.lastname: Griffiths
authors.forename: D
authors.initials: D
authors.lastname: Bunyan
authors.forename: A J
authors.initials: AJ
authors.lastname: Cree
authors.forename: D
authors.initials: D
authors.lastname: Robinson
authors.forename: J
authors.initials: J
authors.lastname: Self
authors.forename: A
authors.initials: A
authors.lastname: MacLeod
authors.forename: A
authors.initials: A
authors.lastname: Lotery
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005240:Feasibility Studies; D005260:Female; D005901:Glaucoma / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D015995:Prevalence; D017422:Sequence Analysis, DNA; D006113:United Kingdom / Q000453:epidemiology; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin