Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
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DOI：
10.1016/s1096-7192(02)00200-7
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发表时间：
2003-01-01
影响因子：
3.8
通讯作者：
Hopwood, JJ
中科院分区：
文献类型：
--
作者：
Matte, U;Yogalingam, G;Hopwood, JJ
在这项研究中，我们调查了一组29名巴西患者，他们被诊断为溶酶体储存障碍，粘多糖I型(MPS-I)。MPS I是由溶酶体水解酶--α-L-艾杜糖醛酸酶缺乏引起的。在这项研究中，90%的MPS I患者进行了基因分型，发现了10个复发的IDUA基因突变和13个新的IDUA基因突变。其中8个新突变和3个常见突变W402X、P533R和R383H分别在CHO-K1细胞中表达，并对α-L艾杜糖苷酶蛋白和酶活性进行了分析。MPS I患者的临床表型与CHO-K1细胞表达的突变型α-L艾杜糖醛酸酶蛋白/酶活性相关。这是首次对巴西MPS I患者进行彻底分析，并强调了在具有大量独特突变的人群中进行突变筛查和临床表型评估的困难。(C)2002年，爱思唯尔科学公司(美国)出版。
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and three common mutations W402X, P533R, and R383H were individually expressed in CHO-K1 cells and analyzed for alpha-L-iduronidase protein and enzyme activity. A correlation was observed between the MPS I patient clinical phenotype and the associated mutant alpha-L-iduronidase protein/enzyme activity expressed in CHO-K1 cells. This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations. (C) 2002 Published by Elsevier Science (USA).