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Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
Author(s) -
Isogai K.,
Sukegawa K.,
Tomatsu S.,
Fukao T.,
Song XQ.,
Yamada Y.,
Fukuda S.,
Orii T.,
Kondo N.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005363414792
Subject(s) - exon , genetics , splice site mutation , mucopolysaccharidosis type ii , point mutation , biology , mutation , intron , gene , allele , exon skipping , genotype , rna splicing , population , microbiology and biotechnology , alternative splicing , medicine , disease , rna , enzyme replacement therapy , environmental health
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.