一名患莫尔基奥B病日本男孩的临床与分子分析
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
作者信息
Ishii N, Oohira T, Oshima A, Sakuraba H, Endo F, Matsuda I, Sukegawa K, Orii T, Suzuki Y
机构信息
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
出版信息
Clin Genet. 1995 Aug;48(2):103-8. doi: 10.1111/j.1399-0004.1995.tb04065.x.
Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.
在一名15岁的日本男孩身上发现了Morquio B病，该男孩表现为进行性全身性骨骼发育不良，无神经学表现。发现有轻度硫酸角质素尿，成纤维细胞中的β-半乳糖苷酶缺乏。基因分析显示有两个突变等位基因，83Tyr→His（Y83H）和482Arg→Cys（R482C）。前者表达的酶活性较低（为正常的2%-5%），后者未检测到酶活性。
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