The mutation in the MYOC gene identified primary open angle glaucoma family in Jiangsu

Abstract

Objective To determine the possible mutation in the MYOC gene underlying POAG in Jiangsu glaucoma family.Methods The members in a four generation POAG family were examined by senior ophthalmologists.All coding sequences of the myocilin gene plus the flanking sites were amplified by polymerase chain reaction (PCR).The control group was randomly selected from 30 healthy persons from outpatient using genomic DNA from all examined family members followed by sequencing of the PCR products.Results This family pedigree exhibited autosomal mode of inheritance,the onset age ranged from 13 to 29 years.A disease-causing missense mutation Tyr360STOP in the third exon of the myocilin gene was identified in all affected family members.None of the subjects without mutation had glaucoma.This mutation Tyr360STOP was not found in control group.Conclusions The myocilin sequence alteration Tyr360STOP is proved to be a disease-causing missense mutation.The mutation in this family is associated with a phenotype characterized by younger-onset open angle glaucoma and associated with a high penetrance. Key words: Open angle glaucoma; MYOC gene; Gene mutation