Glycosylation & Disease

, Volume 1, Issue 1, pp 15–19 | Cite as

A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase

  • Meiheng Yang
  • Howard Allen
  • Hisao Fukushima
  • Richard A. DiCioccio
Research Papers

Abstract

Fucosidosis is an autosomal recessive lysosomal storage disease resulting from the absence of α-l-fucosidase activity. Two natural missense mutations (G197→A) and (A860→G) within the α-l-fucosidase gene have been reported to be homozygous in four patients with fucosidosis. Expression of wild-type and mutated α-l-fucosidase cDNAs in COS-1 cells revealed complete deficiency of α-l-fucosidase for the G197→A transition and a normal level of enzyme for A860→G. We therefore conclude that the change of G197→A is responsible for fucosidosis in the patients while A860→G is a normal polymorphic variant of α-l-fucosidase.

Keywords

α-l-fucosidase fucosidosis missense mutation 

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Copyright information

© Rapid Communications of Oxford Ltd 1994

Authors and Affiliations

  • Meiheng Yang
    • 1
    • 2
  • Howard Allen
    • 1
    • 2
  • Hisao Fukushima
    • 3
  • Richard A. DiCioccio
    • 1
    • 2
  1. 1.Department of Gynecologic OncologyRowell Park Cancer InstituteBuffaloUSA
  2. 2.Program of BiochemistryRowell Park Cancer InstituteBuffaloUSA
  3. 3.Department of Pediatrics, Faculty of MedicineOsaka UniversityOsakaJapan

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