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

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal α-galactosidase A [EC 3.2.1.22]. 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
Volume63
Issue number3
DOIs
StatePublished - Mar 1 2003

Fingerprint

Galactosidases
Fabry Disease
Mutation
Genes
Genotype
Amino Acids
Genetic Association Studies
Neuralgia
Threonine
Prenatal Diagnosis
Alanine
Introns
Hypertrophy
Visual Acuity
Early Diagnosis
Exons
Polymerase Chain Reaction
Population

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease. / Yang, C. C.; Lai, Li-Wen; Whitehair, O.; Hwu, W. L.; Chiang, S. C.; Lien, Yeong Hau H.

In: Clinical Genetics, Vol. 63, No. 3, 01.03.2003, p. 205-209.

Research output: Contribution to journalArticle

Yang, C. C. ; Lai, Li-Wen ; Whitehair, O. ; Hwu, W. L. ; Chiang, S. C. ; Lien, Yeong Hau H. / Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease. In: Clinical Genetics. 2003 ; Vol. 63, No. 3. pp. 205-209.
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