Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.

ABSTRACT:

Background

To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited.

Objectives

To perform a detailed phenotyping and genetic characterization of 55 Chinese patients with EYS-RD, and to identify risk factors for these clinical data.

Methods

A total of 55 patients with EYS-RD were recruited. Best-corrected visual acuity (BCVA), patient age, age at symptom onset, disease duration, and genetic information were collected.

Results

Thirty-six novel variants, three hot mutations of EYS (30.3%, c.6416G>A, c.6557G>A, c.7492G>C) and one hot region (49.06%, Laminin G domains) were identified. In all, 36.84% of the mutations occurred at base G site, and maj

SUBMITTER: Gao FJ 

PROVIDER: S-EPMC9581949 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature