Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

ABSTRACT:

Aim

To report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance.

Methods

Ten family members from three generations participated in this study and received the thorough ophthalmologic examination. Focused exome sequencing on a proband was performed to confirm the target mutations (MYOC c.1021T>C) in the family members, and the direct sequencing was conducted. Variant was analyzed according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines.

Results

A nucleotide change from thymine to cytosine at c.1021T>C was found in eight family members. Three members diagnosed with primary open angle glaucoma (

SUBMITTER: Moon S 

PROVIDER: S-EPMC7590875 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature