GLRA2 gene mutations cause high myopia in humans and mice.

ABSTRACT:

Background

High myopia (HM) is a leading cause of blindness that has a strong genetic predisposition. However, its genetic and pathogenic mechanisms remain largely unknown. Thus, this study aims to determine the genetic profile of individuals from two large Chinese families with HM and 200 patients with familial/sporadic HM. We also explored the pathogenic mechanism of HM using HEK293 cells and a mouse model.

Methods

The participants underwent genome-wide linkage analysis and exome sequencing. Visual acuity, electroretinogram response, refractive error, optical parameters and retinal rod cell genesis were measured in knockout mice. Immunofluorescent staining, biotin-labelled membrane protein isolation and electrophysiological characterisation were conducted in cells transfec

SUBMITTER: Tian Q 

PROVIDER: S-EPMC9887403 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature