GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked recessive inheritance lysosomal storage disorder due to mutations in the GLA gene leading to deficiency of lysosomal α-galactosidase A (α-Gal A) and has a wide range of clinical presentations. Over 900 GLA gene mutations are currently known and of those most are thought not to be clinically significant, some with doubtful clinical significance, posing diagnostic and prognostic difficulties for the clinician.

Methods

Whole-exome sequencing (WES) was performed to detect the mutation in family members with Fabry disease. The function of g.1170C>T mutation was confirmed by dual luciferase system.

Results

A total of 1,375 variants were found in a Chinese family with FD. A missense variants c.1025C>T (p.Arg342Gln) which have been

SUBMITTER: Dong ZY 

PROVIDER: S-EPMC7396806 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature