Siciliano L, Fiumara A, Pavone L, Freeman C, Robertson D, Morris C P, Hopwood J J, Di Natale P, Musumeci S, Horwitz A L
Joseph P Kennedy Jr Mental Retardation Research Center, University of Chicago.
J Med Genet. 1991 Jun;28(6):402-5. doi: 10.1136/jmg.28.6.402.
We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). However, Northern blot analysis showed apparently normal mRNA encoding GlcNAc-6S sulphatase. These findings suggest that abnormal translation or premature degradation may be responsible for the enzyme defect in these cases of Sanfilippo syndrome type D.
我们报告了两名患有D型Sanfilippo综合征的青春期姐妹，她们具有一些与先前描述的其他病例不同的临床特征。她们是迄今为止报告的年龄最大的病例，为该疾病的病程提供了新线索。对患者成纤维细胞的酶学和免疫学特征分析表明，N-乙酰氨基葡萄糖-6-硫酸酯硫酸酯酶（GlcNAc-6S硫酸酯酶）缺乏。然而，Northern印迹分析显示编码GlcNAc-6S硫酸酯酶的mRNA明显正常。这些发现表明，在这些D型Sanfilippo综合征病例中，异常翻译或过早降解可能是导致酶缺陷的原因。
