A novel variant in the keratin 12 gene in a four-generation Chinese family with high myopia.

ABSTRACT:

Background

High myopia is a major cause of visual impairment, and genetic factors play crucial roles in the pathogenesis. We performed this study to identify candidate genes for the development of high myopia in a four-generation Chinese family with myopia.

Methods

All family members with myopia and 100 healthy participants were included in this study. Data were obtained on demographics, disease history, and ocular examination results. We performed whole exome sequencing of the genomic DNA and Sanger sequencing to verify the variants. Functional analyses of the variant were performed using software programmes.

Results

Nine of thirteen family members were found to have high myopia, amongst which two members were also diagnosed keratoconus. A missense variant in the ker

SUBMITTER: Lin Q 

PROVIDER: S-EPMC11584887 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature