Functional evaluation of a novel GLA causative mutation in Fabry disease.

ABSTRACT:

Background

Fabry disease (FD), a rare X-linked α-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease-causing mutations in GLA have been identified in FD due to the advancement of molecular diagnostic tools. We found a novel mutation in a Chinese family with predominant Fabry's disease nephropathy.

Methods

All coding regions and exon-intron splice junctions of the GLA gene were sequenced to find sequence variations. We evaluated the impact on the GLA protein by analysis of the GLA mRNA, by sequential analysis and homology modeling, and by site-directed mutagenesis and in vitro expression studies.

Results

We identified a novel heterozygous missense mutation c.280T>C

SUBMITTER: Li P 

PROVIDER: S-EPMC6732343 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature