Biomaterial Database

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online. 1999

C Hartog, and A Fryer, and M Upadhyaya

Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff, England.

Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are heterogeneous, ranging from small micro-lesions to gross deletions and inversions. We have screened DNA samples from a panel of 24 unrelated Hunter syndrome patients and have identified mutations in 16 individuals. Six mutations represent novel changes in the gene and these include two single base deletions (1264DC and 1632/3DT); two single base insertions (776/8insC and 1082insT); and two missense mutations--Y264N (914T-->G) and Q465P (1518A-->C). An additional two missense mutations and one splice site alteration identified in this study have been described previously. Southern analysis revealed complete or partial gene deletions in a further 7 patients.

UI	MeSH Term	Description	Entries
D007066	Iduronate Sulfatase	An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.	Hunter Corrective Factor,Iduronatesulfate Sulfohydrolase,Sulfoiduronate Sulfatase,Iduronate Sulfate Sulfatase,Corrective Factor, Hunter,Factor, Hunter Corrective,Sulfatase, Iduronate,Sulfatase, Iduronate Sulfate,Sulfatase, Sulfoiduronate,Sulfate Sulfatase, Iduronate,Sulfohydrolase, Iduronatesulfate
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016532	Mucopolysaccharidosis II	Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.	Gargoylism, Hunter Syndrome,Hunter's Syndrome,Iduronate 2-Sulfatase Deficiency,Iduronate Sulfatase Deficiency,Sulfoiduronate Sulfatase Deficiency,Hunter Syndrome,Hunter Syndrome Gargoylism,I2S Deficiency,Mucopolysaccharidosis 2,Mucopolysaccharidosis Type 2,Mucopolysaccharidosis Type II,Deficiency, I2S,Deficiency, Iduronate 2-Sulfatase,Deficiency, Iduronate Sulfatase,Deficiency, Sulfoiduronate Sulfatase,Hunters Syndrome,Iduronate 2 Sulfatase Deficiency,Syndrome, Hunter,Syndrome, Hunter's