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