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首页> 外文期刊>Human mutation >Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
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Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

机译：在具有Creutzfeldt-Jakob疾病表型的遗传性pr病毒病中鉴定the病毒蛋白基因（PRNP）中的三个新突变（E196K，V203I，E211Q）。

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摘要

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts can often transmit the disease once inoculated in a recipient animal. Inherited prion diseases with Creutzfeldt-Jakob disease (CJD) phenotype are autosomal forms, although sporadic cases have been reported. We report three novel mutations of the PRNP gene in unrelated patients with clinical and histopathologic features of CJD. The three mutations were missense: c635G>A (E196K), c656G>A (V203I) and c680G>C (E211Q). Familial history of neurologic disorders was evidenced for patients carrying the E196K and E211Q mutations. E196K would be predicted to have more severe effects on protein stability than V203I and E211Q. These mutations expand the spectrum of mutations in PRNP and reduce the proportion of CJD patients in whom genetic alterations have not been found. Copyright 2000 Wiley-Liss, Inc.
机译：遗传性病毒疾病的特征是编码encoding病毒蛋白（PrP）的PRNP基因突变。作为其他偶发性或感染性ion病毒疾病形式，它们几乎都以患者PrP的异常错误折叠形式在大脑中积累为特征。脑提取物一旦接种到受体动物中，通常可以传播疾病。尽管有零星的病例报道，但具有克雅氏病（CJD）表型的遗传性病毒病是常染色体形式。我们报告与临床和组织病理学特征的CJD无关的患者中PRNP基因的三个新型突变。这三个突变是错义的：c635G> A（E196K），c656G> A（V203I）和c680G> C（E211Q）。携带E196K和E211Q突变的患者有神经系统疾病的家族史。预计E196K对蛋白质稳定性的影响比V203I和E211Q更严重。这些突变扩大了PRNP突变的范围，并降低了尚未发现遗传改变的CJD患者的比例。版权所有2000 Wiley-Liss，Inc.

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