title: Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
abstract: Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five different small mutations have been characterized. Small mutations in the Japanese population are widely distributed through the IDS gene, although some mutations were unevenly concentrated on exon 5 (28%) and on exon 9 (24%). Mutations were seen at the same codon 468 in exon 9 in 5 patients. These findings are in good agreement with data on other ethnic groups. Two unique mutations linked to a severe phenotype were apparently associated with aberrant splicings; one was a point mutation within exon 3 (P86L), partially activating a cryptic splice acceptor site at 28 bp downstream from the mutation site within exon 3 and producing a 44-base truncated mRNA, and the other was a point mutation at the consensus sequence of the splice donor site of intron 2, causing exon 2 skipping.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Isogai
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: X Q
authors.initials: XQ
authors.lastname: Song
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007564:Japan; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics; D016254:Mutagenesis, Insertional; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D007066:Iduronate Sulfatase