Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

ABSTRACT:

Aims

To elucidate genetic background of early-onset high myopia (eoHM) and characteristics of ARR3-associated MYP26.

Methods

Variants in 14 genes reported to contribute to eoHM, including ARR3, were selected from exome sequencing data set and classified into different categories following American College of Medical Genetics and Genomics guidelines based on in silico prediction, associated phenotypes, confirmation and cosegregation analysis. The available clinical data of individuals were summarised.

Results

Pathogenic and likely pathogenic variants in three of 14 genes were identified in 52 of 928 families with eoHM, including 29 in ARR3, 22 in OPN1LW and 1 in LRPAP1. For ARR3, 24 pathogenic variants (16 truncation and 8 miss

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10579186 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature