Abstract
Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of α-L-fucosidase. Recently, various mutations have been reported in this disease, but it is difficult to elucidate the phenotype from the genetic mutations. We report a patient with chronic infantile type fucosidosis, with a compound heterozygote of a nonsense mutation (W148X, Trp at codon 148 to stop codon) and a large deletion, including all exons. This is the first report of a large deletion demonstrated in fucosidosis. It is interesting that this patient has a relatively mild clinical course despite the absence of the mRNA. This case also indicates the difficulty in determining the phenotype from the genotype in fucosidosis.
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Received: February 19, 1999 / Accepted: April 16, 1999
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Akagi, M., Inui, K., Nishigaki, T. et al. Mutation analysis of a Japanese patient with fucosidosis. J Hum Genet 44, 323–326 (1999). https://doi.org/10.1007/s100380050169
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DOI: https://doi.org/10.1007/s100380050169
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