Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.

ABSTRACT:

Background

Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tissues. Mutations in the α-Gal A gene (GLA, Xq22) have been proven to be responsible for Fabry disease.

Methods

In this study, we report a four-generation pedigree with left ventricular hypertrophy and chronic renal failure that was diagnosed by sequencing the GLA gene. An over expression system was constructed to evaluate the function of the detected mutation.

Results

We identified a novel mutation in exon 6 of the GLA gene, p.Asn278Lys, which completely co-segregated with the diseas

SUBMITTER: Zhou C 

PROVIDER: S-EPMC6307325 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature