title: Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.
abstract: OBJECTIVE
  To assess the influence of optineurin in the more common high-tension, primary open-angle glaucoma (POAG).
  
  
  METHODS
  Eighteen sporadic cases and 35 probands from 35 familial cases, including three families with one member having normal-tension glaucoma (NTG), were enrolled. Using transgenomic WAVE denaturing high-performance liquid chromatography (DHPLC), all coding portion of the optineurin gene (from exon 4 to exon 16) was analyzed. Samples displaying an altered elution profile were sequenced to confirm and identify sequence variants. Exon 4 containing the previously reported p.E50K (Glu50Lys) recurrent mutation (covering 13% of normotensive cases) was entirely sequenced.
  
  
  RESULTS
  We did not detect the mutation p.E50K, and we did not find any other pathogenic mutation. A putative splice-site mutation was detected in one family. Extension of segregation analysis to additional family members and mRNA investigation failed to establish a certain involvement of this mutation with the disease. We detected a number of common polymorphisms, including the previously reported p.M98K (Met98Lys) variant.
  
  
  CONCLUSIONS
  In this population, mutations in the optineurin gene are not associated with adult-onset primary POAG.
authors.affiliation: Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Paolo
authors.initials: P
authors.lastname: Frezzotti
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Aldo
authors.initials: A
authors.lastname: Caporossi
authors.forename: Renato
authors.initials: R
authors.lastname: Frezzotti
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000328:Adult; D000368:Aged; D018797:Cell Cycle Proteins; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D012333:RNA, Messenger; D035582:Transcription Factor TFIIIA