Mutation analysis of a japanese patient with fucosidosis

Motohiro Akagi, Koji Inui, Toshinori Nishigaki, Takashi Muramatsu, Chikara Kokubu, Ling Fu, Hisao Fukushima, Itaru Yanagihara, Hiroko Tsukamoto, Hiroki Kurahashi, Shintaro Okada

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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.

Original languageEnglish
Pages (from-to)323-326
Number of pages4
JournalJournal of Human Genetics
Volume44
Issue number5
DOIs
Publication statusPublished - 28-09-1999
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Akagi, M., Inui, K., Nishigaki, T., Muramatsu, T., Kokubu, C., Fu, L., Fukushima, H., Yanagihara, I., Tsukamoto, H., Kurahashi, H., & Okada, S. (1999). Mutation analysis of a japanese patient with fucosidosis. Journal of Human Genetics, 44(5), 323-326. https://doi.org/10.1007/s100380050169