Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7367
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Type: Journal article
Title: Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)
Author: Bunge, S.
Ince, H.
Steglich, C.
Kleijer, W.
Beck, M.
Zaremba, J.
van Diggelen, O.
Weber, B.
Hopwood, J.
Gal, A.
Citation: Human Mutation, 1997; 10(6):479-485
Publisher: WILEY-LISS
Issue Date: 1997
ISSN: 1059-7794
1098-1004
Statement of
Responsibility: 
Susanna Bunge, Hüseyin Ince, Cordula Steglich, Wim J. Kleijer, Michael Beck, Jacek Zaremba, Otto P. van Diggelen, Birgit Weber, John J. Hopwood, Andreas Gal
Abstract: Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42 European patients. Sixteen of the 17 different gene mutations characterized have not been previously described. The spectrum of gene lesions consists of two 1-bp deletions (1091delC, 1093delG), an 18-bp duplication (421ins18), a splice site mutation (IVS2-2A-->G), and 13 different missense point mutations. As in other lysosomal storage disorders, the phenotypic heterogeneity is associated with a considerable genetic heterogeneity. The missense mutation R74C, which alters an evolutionary conserved amino acid in the active site of the enzyme, was found on 56% of alleles of 16 Polish patients, whereas it was less frequent among German patients (21% of disease alleles). R245H, a previously reported common mutation, represents 35% of disease alleles in German patients, but only 3% in Polish patients. As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.
Keywords: Cells, Cultured
Fibroblasts
Humans
Mucopolysaccharidosis III
Hydrolases
Nucleic Acid Heteroduplexes
Binding Sites
Gene Frequency
Genetic Heterogeneity
Mutation
Polymorphism, Single-Stranded Conformational
Genes
Europe
Rights: Copyright © 1997 Wiley-Liss, Inc.
DOI: 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X
Appears in Collections:Aurora harvest 5
Paediatrics publications

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