Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
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DOI：
10.1126/science.271.5256.1731
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发表时间：
1996-03-22
期刊：
影响因子：
56.9
通讯作者：
Myers, RM
中科院分区：
文献类型：
--
作者：
Pennacchio, LA;Lehesjoki, AE;Myers, RM
Unverricht-Lundborg 型进行性肌阵挛癫痫 (EPM1) 是一种常染色体隐性遗传形式的癫痫，先前与人类染色体 21q22.3 相关。编码胱抑素 B 的基因被证明位于该区域，并且发现受影响个体的细胞中由该基因编码的信使 RNA 水平降低。在 EPM1 患者编码胱抑素 B 的基因中发现了两种突变，即 3' 剪接位点突变和终止密码子突变，但在未受影响的个体中不存在。这些结果证明编码胱抑素 B 的基因突变是 EPM1 患者主要缺陷的原因。
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two mutations, a 3' splice site mutation and a stop codon mutation, were identified in the gene encoding cystatin B in EPM1 patients but were not present in unaffected individuals. These results provide evidence that mutations in the gene encoding cystatin B are responsible for the primary defect in patients with EPM1.