Search results for "Iduronate-2-sulfatase"

showing 3 items of 3 documents

Prevalence and characterization of cardiac involvement in Hunter syndrome.

2011

To assess the prevalence of cardiovascular signs and symptoms in a large group of patients with Hunter syndrome, an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase.The Hunter Outcome Survey was established to characterize the natural history of Hunter syndrome and to assess the response to enzyme replacement therapy. Echocardiographic and electrocardiographic examination results were available for 102 patients who were enzyme replacement therapy-naïve in the Hunter Outcome Survey (median age at examination, approximately 8 years) as of Jan 23, 2009.The most common cardiovascular finding was valve disease, which was present in 63% of patients.…

AdultMalemedicine.medical_specialtyTime FactorsAdolescentHeart DiseasesIduronate SulfataseLeft ventricular hypertrophyElectrocardiographyYoung AdultRisk FactorsInternal medicineGermanySurveys and QuestionnairesmedicinePrevalenceHumansYoung adultChildMucopolysaccharidosis IIRetrospective Studiesbusiness.industryMetabolic disorderIduronate-2-sulfataseRetrospective cohort studyHunter syndromeEnzyme replacement therapymedicine.diseaseUnited StatesSurgeryNatural historyEchocardiographyChild PreschoolPediatrics Perinatology and Child HealthbusinessFollow-Up StudiesThe Journal of pediatrics
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Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene

1993

A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. All patients with full deletions or gross rearrangements have severe clinical presentations. Twenty-nine different "small" mutations have so far been characterised in a total of 32 patients. These include 4 nons…

GeneticsMutationPoint mutationIduronate-2-sulfataseHunter syndromeIduronate SulfataseBiologymedicine.diseasemedicine.disease_causeMolecular biologyFrameshift mutationMutationGenotypeGeneticsmedicineHumansPoint MutationMissense mutationMucopolysaccharidosis type IIGene DeletionGenetics (clinical)Mucopolysaccharidosis IIHuman Mutation
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Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

1992

Hunter syndrome is an X-linked mucopoly-saccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in th…

MaleX ChromosomeLocus (genetics)Iduronate SulfataseBiologyGene mappingmedicineHumansMucopolysaccharidosis type IIChildGenetics (clinical)X chromosomeMucopolysaccharidosis IIGeneticsIduronate-2-sulfataseChromosome MappingHunter syndromeDNAmedicine.diseaseXq28PedigreeBlotting SouthernFemaleRestriction fragment length polymorphismChromosome DeletionPolymorphism Restriction Fragment LengthAmerican journal of medical genetics
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