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

Current Genomics
Yuan WuHao Deng

Abstract

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 direct sequencing, and it co-segregated with the disease in the family. The variant is predicted to be disease-causing mutation and result in seriously abnormal function of α-Gal A. Four patients in this family present with classic phenotype of FD, including acroparesthesias, hypohidrosis, angiokeratomas and intermittent burning pain in extremity. The disease severity is similar among male and female patients. Our study extends the genotype-phenotype relationship betwe...Continue Reading

Methods Mentioned

BETA
biopsy
PCR
glycosylation

Software Mentioned

MutationTaster
SIFT
PolyPhen
Basic Local Alignment Search Tool

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