title: Mutation analysis of a Japanese patient with fucosidosis.
abstract: Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of alpha-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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Osaka University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Akagi
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: T
authors.initials: T
authors.lastname: Nishigaki
authors.forename: T
authors.initials: T
authors.lastname: Muramatsu
authors.forename: C
authors.initials: C
authors.lastname: Kokubu
authors.forename: L
authors.initials: L
authors.lastname: Fu
authors.forename: H
authors.initials: H
authors.lastname: Fukushima
authors.forename: I
authors.initials: I
authors.lastname: Yanagihara
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: H
authors.initials: H
authors.lastname: Kurahashi
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D044466:Asian People; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D018388:Codon, Terminator; D005091:Exons; D005260:Female; D005645:Fucosidosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017384:Sequence Deletion; D005644:alpha-L-Fucosidase / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D005644:alpha-L-Fucosidase