title: Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.
abstract: OBJECTIVE
  To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients.
  
  
  METHODS
  A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree.
  
  
  RESULTS
  Four previously identified intronic polymorphisms (IVS5+30C→T; IVS12+90 G→T; IVS13+89G→A; IVS16-30A→G) and a novel one (IVS21-75G→A) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele.
  
  
  CONCLUSIONS
  The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.
authors.affiliation: Department of Ophthalmology, University of Siena, Policlinico Le Scotte, V. Le Bracci 2-53100, Siena, Italy. frezzottip@unisi.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Frezzotti
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Filomena Tiziana
authors.initials: FT
authors.lastname: Papa
authors.forename: Michele
authors.initials: M
authors.lastname: Iester
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Mittica
authors.forename: Ilaria
authors.initials: I
authors.lastname: Motolese
authors.forename: Sabrina
authors.initials: S
authors.lastname: Peruzzi
authors.forename: Rosangela
authors.initials: R
authors.lastname: Artuso
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: Pietro
authors.initials: P
authors.lastname: Mittica
authors.forename: Eduardo
authors.initials: E
authors.lastname: Motolese
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000328:Adult; D002853:Chromatography, Liquid / Q000379:methods; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics* / Q000502:physiology; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C502341:WDR36 protein, human