Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

ABSTRACT:

Purpose

To update knowledge on bestrophin-1 structure and function with the aim of assessing the pathogenicity of variants reported in the Leiden Open Variation Database (LOVD) and in a large French cohort of bestrophinopathies.

Methods

All unique variants reported in the latest version (October 2024) of the BEST1-LOVD database were uploaded and curated. We described all BEST1 variants identified in French patients analyzed at Lille University Hospital, between 2008 and 2024. A comprehensive analysis of each variant was performed based on in silico tools (at DNA, RNA, and protein levels), as well as a literature review providing clinical data and functional assays. All of these data were used to classify the variant pathogenicity according to the American College of Medical

SUBMITTER: Bitan J 

PROVIDER: S-EPMC12410269 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature