与临床阿尔茨海默病相关的PRNP基因无义突变。
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
作者信息
Guerreiro Rita, Brás José, Wojtas Aleksandra, Rademakers Rosa, Hardy John, Graff-Radford Neill
机构信息
Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, England.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Neurobiol Aging. 2014 Nov;35(11):2656.e13-2656.e16. doi: 10.1016/j.neurobiolaging.2014.05.013. Epub 2014 May 27.
Abstract
Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.
摘要
在此，我们描述了一种与临床阿尔茨海默病相关的PRNP基因无义单倍型。该患者出现认知功能下降早发，以记忆力丧失为主要认知问题。全外显子组测序揭示PRNP基因（NM_000311，c.C478T；p.Q160*；rs80356711）存在无义突变，与该蛋白第129位V等位基因纯合性相关，进一步凸显了PRNP基因中非常相似的基因型如何导致截然不同的表型。
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