Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
复制标题
Scheie 综合征 (MPS IS) 突变：G→A 转变在一个 IDUA 等位基因的内含子 5 中创建新的剪接位点。
DOI：
10.1002/humu.1380020215
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发表时间：
1993
期刊：
影响因子：
3.9
通讯作者：
Neufeld,EF
中科院分区：
文献类型：
--
作者：
Moskowitz,SM;Tieu,PT;Neufeld,EF
Scheie综合征是a L-艾杜糖醛酸酶缺乏症中最温和的疾病（Neufeld和Muenzer，1989）。其主要表现是角膜混浊、关节活动度降低和心血管问题;智力、身高和寿命正常。Scheie综合征曾经被分类为一种独特的MPS（McKusick等人，1965年）。从交叉校正（Wiesmann和Neufeld，1970）和酶（Bach等人，1972）研究。甚至在鉴定出常见的酶缺乏症之前，就提出了Scheie和Hurler综合征以及中等临床严重程度的病症（HurleriScheie综合征）的等位基因关系（McKusick等人，1972年）并通过互补研究得到证实（Fortuin和Kleijer，1980年; Mueller等人，1984年）。这三种疾病现在分别被分类为粘多糖样沉积症I-MI’S IS、MPS IH和MPS IH/S的亚组（McKusick等人，1972年; Neufeld和Muenzer，1989年）。编码人aL-艾杜糖醛酸酶的互补和基因组DNA的最近分离（Scott等人，1991，1992 a; Moskowitz等人，1992 a，B）使得分析导致MPS I各种临床形式的突变成为可能。已经报道了Hurler综合征潜在的几种突变（Scott等人，1992 b，c; Moskowitz等人，199213，1993; Bach等人，1993年）。我们着手鉴定Scheie综合征潜在的突变，从两种成纤维细胞株GM 01323和GM 01256开始，这两种成纤维细胞株可从人类遗传突变细胞库（Camden，NJ）获得。GM 01323所来源的患者是Scheie综合征的指示病例（McKusick等人，1965年）。第五，
The Scheie syndrome is the mildest of the aL-iduronidase deficiency diseases (Neufeld and Muenzer, 1989). Its major manifestations are cloudy corneas, reduced joint mobility, and cardiovascular problems; intelligence, height, and life span are normal. The Scheie syndrome was once classified as a distinct MPS (McKusick et al., 1965). Its biochemical relationship to the much more severe Hurler syndrome became apparent from cross correction (Wiesmann and Neufeld, 1970) and enzymatic (Bach et al., 1972) studies. An allelic relationship of the Scheie and Hurler syndromes as well as of a disorder of intermediate clinical severity (HurleriScheie syndrome) was proposed even before a common enzyme deficiency had been identified (McKusick et al., 1972) and was confirmed by complementation studies (Fortuin and Kleijer, 1980; Mueller et al., 1984). The three disorders are now classified as subgroups of mucopolysaccharidosis I-MI'S IS, MPS IH, and MPS IH/S, respectively (McKusick et al., 1972; Neufeld and Muenzer, 1989). Recent isolation of complementary and genomic DNAs encoding human aL-iduronidase (Scott et al., 1991, 1992a; Moskowitz et al., 1992a, b) have made it possible to analyze mutations responsible for the various clinical forms of MPS I. Several mutations underlying the Hurler syndrome have been reported (Scott et al., 1992b, c; Moskowitz et al., 199213, 1993; Bach et al., 1993). We undertook to identify the mutations underlying the Scheie syndrome, starting with the two fibroblast strains, GM01323 and GM01256, that are available from the Human Genetic Mutant Cell Repository (Camden, NJ). The patient from whom GM01323 was derived is an index case of the Scheie syndrome (McKusick et al., 1965). The5 of