A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.

Content Provider	Europe PMC
Author	Guo, Yi-bin Pan, Jing-xin Meng, Ya-xian
Abstract	Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS(++), HS(++), KS(−), CS(−), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient’s IDS gene. His parents’ genotypes were normal. Conclusion: The patient’s mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.
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ISSN	16731581
Volume Number	8
PubMed Central reference number	PMC1934951
Issue Number	8
PubMed reference number	17657858
Journal	J Zhejiang Univ Sci B
DOI	10.1631/jzus.2007.b0566
Language	English
Publisher	Zhejiang University Press
Publisher Date	2007-08-01
Publisher Place	Hangzhou
Access Restriction	Open
Subject Keyword	Hunter syndrome Mucopolysaccharidosis type II (MPS II) Glycosaminoglycan (GAG) Iduronate-2-sulfatase (IDS) Mutation Gene diagnosis DNA sequencing
Content Type	Text
Resource Type	Article
Subject	Veterinary Medicine Biochemistry, Genetics and Molecular Biology Pharmacology, Toxicology and Pharmaceutics