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

研究成果: Article

10 引用 (Scopus)

抄録

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.

元の言語English
ページ(範囲)323-326
ページ数4
ジャーナルJournal of Human Genetics
44
発行部数5
DOI
出版物ステータスPublished - 28-09-1999

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Fucosidosis
Mutation
Phenotype
Terminator Codon
Nonsense Codon
Heterozygote
Codon
Exons
Genotype
Messenger RNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

これを引用

Akagi, M., Inui, K., Nishigaki, T., Muramatsu, T., Kokubu, C., Fu, L., ... 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
Akagi, Motohiro ; Inui, Koji ; Nishigaki, Toshinori ; Muramatsu, Takashi ; Kokubu, Chikara ; Fu, Ling ; Fukushima, Hisao ; Yanagihara, Itaru ; Tsukamoto, Hiroko ; Kurahashi, Hiroki ; Okada, Shintaro. / Mutation analysis of a japanese patient with fucosidosis. :: Journal of Human Genetics. 1999 ; 巻 44, 番号 5. pp. 323-326.
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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.",
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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, 巻. 44, 番号 5, pp. 323-326. https://doi.org/10.1007/s100380050169

Mutation analysis of a japanese patient with fucosidosis. / Akagi, Motohiro; Inui, Koji; Nishigaki, Toshinori; Muramatsu, Takashi; Kokubu, Chikara; Fu, Ling; Fukushima, Hisao; Yanagihara, Itaru; Tsukamoto, Hiroko; Kurahashi, Hiroki; Okada, Shintaro.

:: Journal of Human Genetics, 巻 44, 番号 5, 28.09.1999, p. 323-326.

研究成果: Article

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AU - Okada, Shintaro

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Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L その他. Mutation analysis of a japanese patient with fucosidosis. Journal of Human Genetics. 1999 9 28;44(5):323-326. https://doi.org/10.1007/s100380050169