土耳其的桑菲利波综合征：A 型和 B 型亚型中新突变的鉴定。

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

作者信息

Emre Serap, Terzioglu Mugen, Tokatli Aysegul, Coskun Turgay, Ozalp Imran, Weber Birgit, Hopwood John J

机构信息

Department of Medical Biology, Faculty of Medicine, University of Hacettepe, Ankara, Turkey.

出版信息

Hum Mutat. 2002 Feb;19(2):184-5. doi: 10.1002/humu.9009.

DOI:10.1002/humu.9009

PMID:11793481

Abstract

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.

摘要

桑菲利波综合征（黏多糖贮积症III型，MPS III）是一种进行性疾病，其患者的特征是严重的中枢神经系统退化以及轻度的躯体疾病。MPS III是由于参与硫酸乙酰肝素降解的四种酶之一缺乏所致，其中硫酸酰胺酶（SGSH）在MPS IIIA中缺乏，α-N-乙酰氨基葡萄糖苷酶（NAGLU）在MPS IIIB中缺乏。对五名土耳其MPS IIIA患者和八名土耳其MPS IIIB患者的基因组DNA片段进行了单链构象多态性/异源双链分析的突变筛查。在本研究中，在MPS IIIA患者中鉴定出两种SGSH突变：R74C和新突变P288S，以及一种多态性（IVS1+23 C>G）。在MPS IIIB患者中鉴定出五种不同的NAGLU突变：L682R、H248R、E153K、g.17703 A>G（新突变）和T437I（新突变）。详细报告了所有患者的临床数据。在土耳其MPS IIIA和MPS IIIB患者中观察到高度的遗传异质性。