Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.

ABSTRACT:

Purpose

To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study. All patients underwent detailed clinical examinations to confirm the diagnosis of PCG. The families of index patients were also examined. Genealogical information was obtained by pedigree analysis. The primary candidate gene, CYP1B1, was amplified from genomic DNA, sequenced, and analyzed in patients to identify the disease-causing mutations.

Results

Eight of the nine PCG families were consanguineous (89%). Molecular analysis of CYP1B1 showed three distinct mutations, p.G61E, p.D374N, and p.R368H, in seven of nine unrelated PCG index patients (78%). Six patients had homo

SUBMITTER: El-Gayar S 

PROVIDER: S-EPMC2709423 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature