http://purl.uniprot.org/citations/22622771 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22622771 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundMucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases. In this paper we report a novel IDS nonsense mutation resulting in MPS II in several patients from a Chinese family.MethodsIDS enzyme activity, polymerase chain reaction, and DNA sequencing were performed to confirm the diagnosis of MPS II.ResultsThree patients had no detectable IDS activity. Two genetic tests revealed a novel IDS nonsense mutation (c.1030G>T, p.E344X) inherited from their mothers. The nonsense mutation shortened the peptide chain from 550 to 344 amino acids, which is believed to be a disease-causing mutation.ConclusionsMPS II is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. Genetic testing is necessary to identify disease-causing mutation. With this information, carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk become possible."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.org/dc/terms/identifier | "doi:10.1007/s12519-012-0357-1"xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Ju J."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Yang X.F."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Li X.Y."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Shi X.Y."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Hu X.H."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/author | "Zou L.P."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/name | "World J Pediatr"xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/pages | "281-283"xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/title | "A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II."xsd:string |
http://purl.uniprot.org/citations/22622771 | http://purl.uniprot.org/core/volume | "8"xsd:string |
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