Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.

ABSTRACT:

Introduction

Fabry disease, a rare X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene, affecting multiple organs. However, functional validation data on the pathogenicity of novel mutations and research on the effects of migalastat intervention at different mutation sites is lacking.

Objectives

To explore the pathogenicity of novel missense mutations in the GLA gene in Fabry disease and the intervention effect of migalastat on the disease model of novel mutation sites.

Methods

We retrospectively screened novel mutations from the clinical data of 163 patients with Fabry disease, investigated the pathogenicity of these mutations by clinical data and pedigree analysis, bioinformatics prediction, protein structure modeling prediction, and c

SUBMITTER: Guo W 

PROVIDER: S-EPMC12766234 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature