Biochem Biophys Res Commun. 1992 Mar 16;183(2):809-13.

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T.

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Department of Pediatrics, Gifu University School of Medicine, Japan.

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.

PMID:: 1550586; [PubMed - indexed for MEDLINE]

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Iduronate Sulfatase

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A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome. [J Formos Med Assoc. 2005]
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
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Cited by 3 PubMed Central articles

Germline and somatic mosaicism in a female carrier of Hunter disease. [J Med Genet. 1997]
Germline and somatic mosaicism in a female carrier of Hunter disease.
Froissart R, Maire I, Bonnet V, Levade T, Bozon D. J Med Genet. 1997 Feb; 34(2):137-40.
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. [Am J Hum Genet. 1995]
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Jonsson JJ, Aronovich EL, Braun SE, Whitley CB. Am J Hum Genet. 1995 Mar; 56(3):597-607.
Processing of iduronate 2-sulphatase in human fibroblasts. [Biochem J. 1995]
Processing of iduronate 2-sulphatase in human fibroblasts.
Froissart R, Millat G, Mathieu M, Bozon D, Maire I. Biochem J. 1995 Jul 15; 309 ( Pt 2):425-30.

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Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

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