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

This study reports 13 novel mutation sites in the GLA gene for Fabry disease, including nine definite pathogenic mutations and four missense mutations confirmed to be pathogenic in this study, thereby enriching the Fabry disease gene mutation database. Migalastat intervention improved enzyme activity in these mutation models, especially in cases with minor changes in protein structure and function, which are expected to guide clinical treatment.