Mutation analysis of a Japanese patient with fucosidosis.
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.
Akagi
M
M
Department of Pediatrics, Faculty of Medicine, Osaka University, Japan.
Inui
K
K
Nishigaki
T
T
Muramatsu
T
T
Kokubu
C
C
Fu
L
L
Fukushima
H
H
Yanagihara
I
I
Tsukamoto
H
H
Kurahashi
H
H
Okada
S
S
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*
D018388:Codon, Terminator; D005644:alpha-L-Fucosidase