Scott H S, Blanch L, Guo X H, Freeman C, Orsborn A, Baker E, Sutherland G R, Morris C P, Hopwood J J
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Nat Genet. 1995 Dec;11(4):465-7. doi: 10.1038/ng1295-465.
Sanfilippo A syndrome is one of four recognised Sanfilippo sub-types (A, B, C and D) that result from deficiencies of different enzymes involved in the lysosomal degradation of heparan sulphate; patients suffer from severe neurological disorders. The Sanfilippo syndrome sub-types are also known as mucopolysaccharidosis (MPS) type III (MPS-IIIA, B, C and D), and are part of the large group of lysosomal storage disorders. Each of the MPS-III types is inherited as an autosomal recessive disorder with considerable variation in severity of clinical phenotype. The incidence of Sanfilippo syndrome has been estimated at 1:24,000 in The Netherlands with MPS IIIA (MIM #252900) the most common. MPS-IIIA is the predominant MPS-III in the United Kingdom, and has a similar high incidence to that found in The Netherlands (E. Wraith, personal communication). There is a particularly high incidence of a clinically severe form of MPS-IIIA in the Cayman Islands with a carrier frequency of 0.1 (ref. 4). Due to the mild somatic disease compared to other MPS disorders there is difficulty in diagnosing mild cases of MPS-III, hence Sanfilippo syndrome may be underdiagnosed, especially in patients with mild mental retardation. Here, we report the isolation, sequence and expression of cDNA clones encoding the enzyme sulphamidase (EC 3.10.1.1). In addition, we report the chromosomal localisation of the sulphamidase gene as being 17q25.3. An 11-bp deletion, present in sulphamidase cDNA from two unrelated Sanfilippo A patients, is described.
桑菲利波综合征A型是四种公认的桑菲利波亚型（A、B、C和D）之一，这些亚型是由于参与硫酸乙酰肝素溶酶体降解的不同酶缺乏所致；患者患有严重的神经疾病。桑菲利波综合征亚型也被称为黏多糖贮积症（MPS）III型（MPS-IIIA、B、C和D），是溶酶体贮积症大类的一部分。每种MPS-III型都作为常染色体隐性疾病遗传，临床表型严重程度有很大差异。据估计，荷兰桑菲利波综合征的发病率为1:24,000，其中MPS-IIIA（MIM #252900）最为常见。MPS-IIIA是英国主要的MPS-III型，发病率与荷兰相似（E. Wraith，个人交流）。在开曼群岛，临床严重形式的MPS-IIIA发病率特别高，携带频率为0.1（参考文献4）。由于与其他MPS疾病相比，躯体疾病较轻，MPS-III轻症病例难以诊断，因此桑菲利波综合征可能诊断不足，尤其是在轻度智力迟钝的患者中。在此，我们报告了编码硫酸酯酶（EC 3.10.1.1）的cDNA克隆的分离、测序和表达。此外，我们报告了硫酸酯酶基因的染色体定位为17q25.3。描述了来自两名无关的桑菲利波A患者的硫酸酯酶cDNA中存在的一个11碱基缺失。
