Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families.

ABSTRACT:

Aim

To describe the clinical heterogeneity of patients with novel mutations in BEST1.

Methods

All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity, slit-lamp examination, applanation tonometry, and dilated fundus examination. Fundus autofluorescence, fundus fluorescein angiography, spectral-domain optical coherence tomography, electrooculography, and electroretinogram were also performed. Genomic DNA was extracted from venous blood for all the participants. The targeted next-generation sequencing of inherited retinal disease-associated genes was conducted to identify the causative mutation.

Results

A novel BEST1 missense mutation c.41T>C (p.Leu14Ser) was identified in Family 1. It was

SUBMITTER: Zhu ZH 

PROVIDER: S-EPMC8818453 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature