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

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

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 - 1999
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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