[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease]

To investigate the clinical manifestations and to characterize mutations of the GLA gene in Chinese patients with Fabry disease so to enhance the diagnosis of Fabry disease.

Sixteen Chinese affected males (from 16 unrelated families) with the classic phenotype of Fabry disease were investigated. The patients were diagnosed by a deficiency of alpha-galactosidase A (alpha-Gal A) activity. All seven exons and the neighboring intronic sequences of GLA gene were analyzed by PCR amplification and automated sequencing.

A total of 14 mutations were identified including 12 single-base substitutions (11 missense and 1 nonsense mutations), 1 small deletion and 1 splicing mutation. Eight novel mutations (c.119 C > A, c.275 A > T, c.520T > C, c.547G > C, c.647A > G, c.929T > G, c.1045T > A, IVS1-1G > A) were identified. The novel mutations were not tested by RFLP on 100 GLA alleles in Chinese population, and were highly conservative in mammalian species.

Fabry disease is often misdiagnosed in China. There is no hot spot for mutations in Chinese patients. GLA gene mutation analysis is a reliable method to diagnosis for Fabry disease.