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.

Key words: Hunter syndrome, Mucopolysaccharidosis type II (MPS II), Glycosaminoglycan (GAG), Iduronate-2-sulfatase (IDS), Mutation, Gene diagnosis, DNA sequencing

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