Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.

ABSTRACT:

Purpose

Variants in the ARR3 gene have been linked to early-onset high myopia (eoHM) with a unique X-linked female-limited inheritance. However, the clinical validity of this gene-disease association has not been systematically evaluated.

Methods

We identified two Chinese families with novel ARR3 splicing variants associated with eoHM. Minigene constructs were generated to assess the effects of the variants on splicing. We integrated previous evidence to curate the clinical validity of ARR3 and eoHM using the ClinGen framework.

Results

The variants c.39+1G>A and c.100+4A>G were identified in the two families. Minigene analysis showed both variants resulted in abnormal splicing and introduction of premature termination codons. Based on genetic and experimental evidence

SUBMITTER: Niu J 

PROVIDER: S-EPMC10981162 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature