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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

✍ Scribed by Susanna Bunge; Hüseyin Ince; Cordula Steglich; Wim J. Kleijer; Michael Beck; Jacek Zaremba; Otto P. van Diggelen; Birgit Weber; John J. Hopwood; Andreas Gal

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 152 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:6<479::aid-humu10>3.0.co;2-x

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✦ Synopsis

Communicated by Jürgen Horst

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 (IVS2-2AÃG), 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. Hum Mutat 10:479-485, 1997.

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