A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primaryinfantile glaucoma

PURPOSE: To report a novel mutation of the CYP1B1 gene in a Japanese patien t with primary infantile glaucoma. METHODS: DNA was extracted from leukocytes of six unrelated patients with p rimary infantile glaucoma, The coding regions of the CYP1B1 gene were ampli fied by polymerase chain reaction, examined by agarose I:el 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 h eteroduplex analysis. Direct sequencing disclosed a homoxygous 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 an d 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 th e CYP1B1 gene. CONCLUSIONS: This is the first report of CYP1B1 gene mutation in primary in fantile glaucoma from the Eastern world, CYP1B1 gene mutation for primary i nfantile glaucoma spreads worldwide, but its prevalence may have ethnic or geographic differences. (Am J Ophthalmol 1999;128:370-372. (C) 1999 by Else vier Science Inc. All rights reserved.).