Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
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DOI：
10.1016/s0003-3995(01)01037-1
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发表时间：
2001-01-01
期刊：
影响因子：
--
通讯作者：
Laplaud, PM
中科院分区：
文献类型：
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作者：
Gilbert, B;Rouis, M;Laplaud, PM
我们调查了一个2岁的病人的脂蛋白脂酶（LPL）基因，表现出家族性LPL缺乏症的典型特征，包括检测不到LPL活性。外显子5的DNA序列分析确定患者为Gly188Glu突变的纯合子，常参与这种疾病。通过对LPL基因的分子研究，对LPL缺乏症病例进行了回顾，结果显示，共有221个报告的突变与这种疾病有关。23.5%的病例涉及Gly188Glu，74.6%的突变集中在外显子5和6。基于这些观察，我们提出了一种筛选该基因突变的方法。(C)2001年，Elsevier SAS科学与医学版。
We have investigated the lipoprotein lipase (LPL) gene of a 2-year-old patient presenting classical features of the familial LPL deficiency including undetectable LPL activity. DNA sequence analysis of exon 5 identified the patient as a homozygote for the Gly188Glu mutation, frequently involved in this disease. A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease. Gly188Glu was involved in 23.5 % of cases and 74.6 % of mutations were clustered in exons 5 and 6. Based on these observations, we propose a method of screening for mutations in this gene. (C) 2001 Editions scientifiques et medicales Elsevier SAS.