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

PURPOE: To report a novel mutation of the CYP1B1 gene in a Japanee patient with primary infantile glaucoma. METHOD: DNA wa extracted from leukocyte of ix unrelated patient with primary infantile glaucoma. The coding region of the CYP1B1 gene were amplified by polymerae chain reaction, examined by agaroe gel eparation and heteroduplex method, and directly equenced. REULT: One of the patient with primary infantile glaucoma had a mutation of the CYP1B1 gene, with an abnormal hift in agaroe gel eparation and heteroduplex analyi. Direct equencing dicloed a homozygou inertion of guanine at nucleotide 1620 of exon 3, which produced a framehift leading to premature termination of amino acid tranlation. The patient wa male and had poradic, claic primary infantile glaucoma. None of the other five patient with infantile glaucoma, the 30 patient with primary adult-onet glaucoma, or the 70 healthy control ubject howed any abnormalitie in the CYP1B1 gene. CONCLUION: Thi i the firt report of CYP1B1 gene mutation in primary infantile glaucoma from the Eatern world. CYP1B1 gene mutation for primary infantile glaucoma pread worldwide, but it prevalence may have ethnic or geographic difference.