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Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B
Author(s) -
Emre Serap,
Terzioglu Mugen,
Tokatli Aysegul,
Coskun Turgay,
Ozalp Imran,
Weber Birgit,
Hopwood John J.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9009
Subject(s) - mucopolysaccharidosis , biology , heteroduplex , mutation , microbiology and biotechnology , compound heterozygosity , single strand conformation polymorphism , genetics , gene , biochemistry
Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with sulfamidase (SGSH) being deficient in MPS IIIA and a‐N‐acetylglucosaminidase (NAGLU) deficient in MPS IIIB. Mutation screening using SSCP/heteroduplex analysis on genomic DNA fragments was performed in five Turkish MPS IIIA and eight Turkish MPS IIIB patients. In this study two mutations of SGSH were identified in MPS IIIA patients: R74C and the novel mutation P288S, and one polymorphism (IVS1+23 C>G). Five different mutations of NAGLU were identified in MPS IIIB patients: L682R, H248R, E153K, g.17703 A>G (novel), and T437I (novel). The clinical data of all patients are reported in detail. A high degree of genetic heterogeneity was observed in the Turkish MPS IIIA and MPS IIIB patients. © 2002 Wiley‐Liss, Inc.