Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7367
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
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 |
Published version: | http://dx.doi.org/10.1002/(sici)1098-1004(1997)10:6%3C479::aid-humu10%3E3.0.co;2-x |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.