Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

ABSTRACT:

Introduction

Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascular manifestations. It is caused by mutations in the α-galactosidase A gene (gene symbol GLA) on chromosome Xq22, which leads to deficiency of lysosomal α-galactosidase A (α-Gal A), and subsequent accumulation of glycosphingolipids in various tissues and organs. The aim of this study is to identify the disease-causing mutation in a five-generation Chinese family with FD. A c.782G>T transversion (p.G261V) in the GLA gene was identified in four patients and two asymptomatic carriers by direc

SUBMITTER: Wu Y 

PROVIDER: S-EPMC5817879 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature