Xu M
Division of Biochemistry, Hokkaido University School of Medicine, Sapporo, Japan.
Hokkaido Igaku Zasshi. 1996 May;71(3):359-67.
Maroteaux-Lamy syndrome (MLS, also known as Mucopolysaccharidosis VI) is an inherited lysosomal disease due to a deficiency of the enzyme arylsulfatase B (ASB). Clinically, severe, intermediate and mild types are classified according to the symptoms and the age of onset. In recent years, several cases have been reported in which various mutations have been found by sequence analysis of ASB cDNA or genomic DNA. All of these mutations were reported occurred in single patients. Here I report a severe type MLS patient. A new point mutation was found on ASB gene which resulted in a stop codon at ASB peptide 421 (Glu). Due to this point mutation, a peptide fragment composed of 112 amino acids should have been deleted out. This point mutation was confirmed as a homoallele by direct sequence analysis of genomic DNA. Expression experiment on this point mutation revealed that the mutant produced neither mature ASB protein nor enzyme activity.
马罗-拉米综合征（MLS，也称为粘多糖贮积症VI型）是一种由于芳基硫酸酯酶B（ASB）缺乏引起的遗传性溶酶体疾病。临床上，根据症状和发病年龄分为重型、中型和轻型。近年来，已有数例通过对ASB cDNA或基因组DNA进行序列分析发现各种突变的报道。所有这些突变均报道发生在单一患者中。在此，我报告一例重型MLS患者。在ASB基因上发现了一个新的点突变，该突变导致ASB肽421（Glu）处出现终止密码子。由于这个点突变，一个由112个氨基酸组成的肽片段应该被删除。通过对基因组DNA进行直接序列分析，证实该点突变为纯合等位基因。对该点突变进行的表达实验表明，突变体既不产生成熟的ASB蛋白，也不产生酶活性。
