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Current Genomics


ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Research Article

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

Author(s): Yuan Wu , Hong Xia, Jinzhong Yuan , Hongbo Xu, Xiong Deng, Jun Liu, Hao Zhang and Hao Deng*

Volume 19, Issue 1, 2018

Page: [70 - 75] Pages: 6

DOI: 10.2174/1389202918666170915155033

Price: $65


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 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.

Conclusion: The disease severity is similar among male and female patients. Our study extends the genotype-phenotype relationship between mutations in the GLA gene and clinical findings of FD, which may be helpful in the genetic counseling of patients with FD.

Keywords: Fabry disease, α-galactosidase A, Phenotype, The GLA gene, Mutation, p.G261V.

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