Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease

C. C. Yang, L. W. Lai, O. Whitehair, W. L. Hwu, S. C. Chiang, Yeong Hau H. Lien

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17 Scopus citations


Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal α-galactosidase A [EC]. The molecular diagnosis of Fabry disease is important for genotype/phenotype correlation, prenatal or early diagnosis, and detection of carrier status. Although more than 200 genotypes of the α-galactosidase A gene have been identified, mutation data on the Chinese population is sparse. We recently identified two unrelated Chinese families with Fabry disease. Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the α-galactosidase A gene. Two novel mutations were identified: in family I, a C-to-A transversion resulted in an early termination at amino acid 222 (Y222X), while in family II, an A-to-G transition resulted in a substitution of alanine for threonine at amino acid 410 (T410A). Carrier status was identified in all four females in the two families. The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain.

Original languageEnglish (US)
Pages (from-to)205-209
Number of pages5
JournalClinical Genetics
Issue number3
StatePublished - Mar 1 2003


  • Carrier
  • Fabry disease
  • Molecular diagnosis
  • Mutation
  • Phenotype
  • α-galactosidase A

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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