Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.

ABSTRACT:

Purpose

Variants in the GLRA2 gene have been linked to early-onset and nonsyndromic high myopia with a X-linked inheritance. This study aimed to elucidate clinical and genetic characteristics of GLRA2-associated early-onset high myopia (eoHM).

Methods

Variants in 17 genes reported to contribute to eoHM, including GLRA2, were evaluated for pathogenic level based on in silico prediction, associated phenotypes, and cosegregation analysis. The available clinical data of individuals were summarized. Minigene constructs were generated to assess the effects of the variant c.494+1G>A in GLRA2 on splicing. We integrated previous evidence to curate the clinical validity of GLRA2 and eoHM using the ClinGen framework.

Results

Pathogenic and likely pathogenic variants in 7 of 17 g

SUBMITTER: Li X 

PROVIDER: S-EPMC12007679 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature