在来自荷兰的桑菲利波综合征A型患者中鉴定出一种常见突变（R245H）。

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

作者信息

Weber B, van de Kamp J J, Kleijer W J, Guo X H, Blanch L, van Diggelen O P, Wevers R, Poorthuis B J, Hopwood J J

机构信息

Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's & Children's Hospital, North Adelaide, Australia.

出版信息

J Inherit Metab Dis. 1998 Jun;21(4):416-22. doi: 10.1023/a:1005362826552.

DOI:10.1023/a:1005362826552

PMID:9700599

Abstract

We have identified a common mutation (R245H) in the sulphamidase gene of Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA, MPS IIIA) patients from The Netherlands. Allele-specific oligonucleotide hybridization was used to determine the incidence of this mutation in 45 unrelated MPS IIIA patients from different regions of The Netherlands. R245H was present in 51 alleles, representing 56.7% of the total allelic population. Of 39 patients, for whom we have uniform clinical details, 13 MPS IIIA patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, containing respectively one or no R245H alleles. The R245H allele had a higher prevalence in western rather than eastern regions of The Netherlands.

摘要

我们在来自荷兰的A型桑菲利波综合征（粘多糖贮积症IIIA型，MPS IIIA）患者的硫酸酰胺酶基因中鉴定出一种常见突变（R245H）。采用等位基因特异性寡核苷酸杂交法来确定该突变在来自荷兰不同地区的45例无亲缘关系的MPS IIIA患者中的发生率。R245H存在于51个等位基因中，占总等位基因群体的56.7%。在我们掌握统一临床细节的39例患者中，13例该常见突变纯合的MPS IIIA患者具有比其余21例或5例患者更一致但更严重的临床表型，其余21例或5例患者分别含有一个或不含R245H等位基因。R245H等位基因在荷兰西部地区的患病率高于东部地区。