Islam M R, Vervoort R, Lissens W, Hoo J J, Valentino L A, Sly W S
Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University Health Sciences Center, MO 63104, USA.
Hum Genet. 1996 Sep;98(3):281-4. doi: 10.1007/s004390050207.
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an autosomal recessively inherited lysosomal storage disease caused by a deficiency in beta-glucuronidase. We identified and studied a novel allele containing two C-to-T transitions resulting in P408S and P415L alterations, which is present in homozygous state in one Mexican patient and in heterozygous state in another. None of the previous reports describing mutations in the MPS VII gene include Mexican patients. Expression of either of the mutations individually showed only modest effects on the properties of the enzyme. However, expression of the doubly mutant allele resulted in markedly reduced activity and rapid degradation in an early biosynthetic compartment.
黏多糖贮积症VII型（MPS VII，斯利综合征）是一种常染色体隐性遗传的溶酶体贮积病，由β-葡萄糖醛酸酶缺乏引起。我们鉴定并研究了一个新的等位基因，该基因包含两个C到T的转换，导致P408S和P415L改变，在一名墨西哥患者中呈纯合状态，在另一名患者中呈杂合状态。先前关于MPS VII基因突变的报道均未包括墨西哥患者。单独表达任何一种突变对酶的性质仅显示出适度影响。然而，双重突变等位基因的表达导致活性显著降低，并在早期生物合成区室中快速降解。
