title: Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
abstract: Hunter disease, an X-linked recessive lysosomal storage disorder, is caused by a deficiency in iduronate sulfatase activity. Sequence analysis of mRNA of fibroblasts of an intermediate phenotype patient showed a single C1327 to T nucleotide transition. This mutation resulted in a substitution of termination codon for normal arginine at position 443 of the peptide sequence. Expression studies with this abnormal cDNA in fibroblasts from the patient revealed a loss of enzymatic activity and instability of the mutated protein. We posturate that this mutation is probably the cause of the intermediate form of Hunter disease.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: K
authors.initials: K
authors.lastname: Tamai
authors.forename: M
authors.initials: M
authors.lastname: Ikeda
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Masue
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D001483:Base Sequence; D002648:Child; D005347:Fibroblasts; D015870:Gene Expression; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014162:Transfection
chemical_list: D007066:Iduronate Sulfatase