Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma

The myocilin (MYOC) gene has been shown to be related to primary open-angle glaucoma (POAG). This study was aimed to detect the mutations in MYOC in a Chinese family with POAG.

A family with four members, the parents, a son and a daughter, was enrolled in this study. All members of the family underwent the complete ophthalmologic examinations. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of MYOC was amplified by polymerase chain reaction (PCR), followed by direct DNA sequencing.

The son, who was the proband of this family, was diagnosed as early-onset POAG in both eyes. His mother was diagnosed as POAG ten years ago. A novel heterozygous missense mutation c.761C

This study provides a mutation spectrum of MYOC resulting in POAG development in a Chinese population, which may help to better understand the molecular pathogenesis and clinical diagnosis of MYOC-associated POAG.