Mutation identification and characterization of a Taiwanese patient with fucosidosis

Shuan Pei Lin, Jui Hung Chang, Maria Paez De La Cadena, Ting Fang Chang, Guey Jen Lee-Chen

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Fucosidosis is a rare lysosomal storage disease caused by a defect of the α-l-fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with fucosidosis. Upon expressing in COS-7 cells, 97.4% of α-l-fucosidase activity compared with that of the wild-type construct was observed in the cDNA containing Q281R polymorphism. Western blot analysis revealed a 58-kDa precursor and 56-kDa mature forms for cells transfected with wild-type and Q281R enzymes. Using the fluorogenic substrate, the Michaelis constants and maximal velocities of both enzymes were very similar. While no appreciable enzyme activity (0.0%) was observed with Y126X mutation, no apparent decrease in FUCA1 mRNA level was seen with Y126X mutation. The expressed truncated Y126X protein was unstable and largely degraded. The delineation of the molecular defect could serve to complement future prenatal diagnosis for this family when necessary.

Original languageEnglish
Pages (from-to)553-556
Number of pages4
JournalJournal of Human Genetics
Volume52
Issue number6
DOIs
Publication statusPublished - 2007 Jun 1

Keywords

  • Fucosidosis
  • In vitro expression
  • Mutation
  • Polymorphism
  • α-L-Fucosidase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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