title: A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma.
abstract: OBJECTIVE
  To report a novel mutation of the CYP1B1 gene in a Japanese patient with primary infantile glaucoma.
  
  
  METHODS
  DNA was extracted from leukocytes of six unrelated patients with primary infantile glaucoma. The coding regions of the CYP1B1 gene were amplified by polymerase chain reaction, examined by agarose gel separation and heteroduplex methods, and directly sequenced.
  
  
  RESULTS
  One of the patients with primary infantile glaucoma had a mutation of the CYP1B1 gene, with an abnormal shift in agarose gel separation and heteroduplex analysis. Direct sequencing disclosed a homozygous insertion of guanine at nucleotide 1620 of exon 3, which produced a frameshift leading to premature termination of amino acid translation. The patient was male and had sporadic, classic primary infantile glaucoma. None of the other five patients with infantile glaucoma, the 30 patients with primary adult-onset glaucoma, or the 70 healthy control subjects showed any abnormalities in the CYP1B1 gene.
  
  
  CONCLUSIONS
  This is the first report of CYP1B1 gene mutation in primary infantile glaucoma from the Eastern world. CYP1B1 gene mutation for primary infantile glaucoma spreads worldwide, but its prevalence may have ethnic or geographic differences.
authors.affiliation: Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kakiuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Isashiki
authors.forename: K
authors.initials: K
authors.lastname: Nakao
authors.forename: S
authors.initials: S
authors.lastname: Sonoda
authors.forename: K
authors.initials: K
authors.lastname: Kimura
authors.forename: N
authors.initials: N
authors.lastname: Ohba
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005901:Glaucoma / Q000151:congenital / Q000201:enzymology* / Q000235:genetics*; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1