title: Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features.
abstract: OBJECTIVE
  To describe the clinical features and identify the molecular etiology of childhood-onset primary open angle glaucoma (POAG) in a Canadian kindred.
  
  
  METHODS
  Members of a Canadian Caucasian family with POAG were examined and DNA obtained. Single-strand conformation polymorphism analysis was performed using reported primers from exon 3 of the myocilin gene. A single-stranded conformation polymorphism was characterized by polymerase chain reaction-based sequencing.
  
  
  RESULTS
  Two affected half-sibs had onset of severe glaucoma at age 3 and 9. Their mother had lost vision in one eye from glaucoma by age 17. All three affected subjects had undergone bilateral glaucoma filtering surgery. Both fathers were unaffected. A single-stranded conformation polymorphism was identified in the mother and the two affected daughters and was absent in one father. A single base change from C-->T at nucleotide position 1109 was identified in the affected members of the family by direct sequencing. This mutation, which causes a nonconservative amino acid change (Pro370Leu), was not found on 192 normal chromosomes from Caucasian individuals.
  
  
  CONCLUSIONS
  We report a Canadian family with childhood-onset, severe POAG due to a mutation in the myocilin gene.
authors.affiliation: Ottawa Hospital, University of Ottawa Eye Institute, Ottawa, Canada. kdamji@ogh.on.ca
authors.forename: K F
authors.initials: KF
authors.lastname: Damji
authors.forename: X
authors.initials: X
authors.lastname: Song
authors.forename: S K
authors.initials: SK
authors.lastname: Gupta
authors.forename: J
authors.initials: J
authors.lastname: Gao
authors.forename: W
authors.initials: W
authors.lastname: Rock
authors.forename: D E
authors.initials: DE
authors.lastname: Bulman
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D001483:Base Sequence; D002170:Canada; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005192:Family Health; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin