Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.

ABSTRACT:

Purpose

This study was conducted to investigate potential candidate pathogenic genes in early-onset high myopia (eoHM) in families with eoHM.

Methods

Whole-exome sequencing was performed on probands with eoHM to identify potential pathogenic genes. Sanger sequencing was used to verify the identified gene mutations causing eoHM in first-degree relatives of the proband. The identified mutations were screened out by bioinformatics analysis combined with segregation analysis.

Results

A total of 131 variant loci, involving 97 genes, were detected in the 30 families. A total of 28 genes (37 variants), which were carried by 24 families, were verified and analyzed by Sanger sequencing. We identified five genes and 10 loci associated with eoHM, which have not been reported in

SUBMITTER: Yang E 

PROVIDER: S-EPMC10198284 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature