Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Fabry disease caused by a novel GLA mutation.

ABSTRACT:

Background

Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the galactosidase alpha (GLA) gene. We established a cohort of FD patients and performed whole-exome sequencing to identify some novel mutations.

Aim

The aim of this study is to investigate the etiology of the novel mutation (c.72G > A, p. Trp24*)in the GLA gene in affected patients by using induced pluripotent stem cells (iPSCs) as a valuable tool.

Methods

We explored the clinical implications of this proband and examined the deleteriousness and conservation of the mutation site through bioinformatics analysis. Simultaneously, we collected the peripheral blood mononuclear cells of the affected patient, then reprogrammed them into iPSCs and assessed their enzymatic activity to co

SUBMITTER: Gao L 

PROVIDER: S-EPMC11389907 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature