Further support of the role of CYP1B1 in patients with Petersanomaly

[摘要] Purpose: Peters anomaly is a developmental anomaly of the eyefrequently associated with glaucoma. The aim of this study was tofurther define the molecular basis of this condition.Methods: The role of four candidate genes implicated in oculardevelopment or glaucoma, PAX6, PITX2, MYOC, and CYP1B1,was studied in 15 patients with Peters anomaly. Mutational analysis useda combination of single strand conformation polymorphism (SSCP) anddirect cycle sequencing.Results: Four mutations in CYP1B1 were found in 3/15 (20%)affected individuals compared with 1/140 (0.7%) control individuals.Conclusions: This study supports the role of CYP1B1 as acausative gene in Peters anomaly. Furthermore, this emphasizes the broadrange of phenotypic expression for CYP1B1 mutations, and its role ineye development.

[学科分类] 生物化学/生物物理