Mutations associated with copy number variation in neurological disorders

研究表明，人类基因组的许多区域存在拷贝数变异。其中一些显然与疾病状况有关。在这项研究中，我们使用来自病因不明的神经系统疾病家族病例的样本进行了全基因组调查，以检测与疾病状况相关的CNVs。分析结果显示，在正常对照中，有几个区域存在CNV。此外，我们还在家族性痴呆病例中发现了明显的致病性CNV。

It has been demonstrated that a number of regions in human genome shows copy number variation. Some of them are apparently associated with disease conditions. In this study, we performed genome-wide survey to detect CNVs associated with disease condition using samples from familial cases with neurological disorders with unknown etiology. This analysis revealed that there are several regions with CNV in normal controls. In addition, we also found apparently pathogenic CNV in familial case with dementia.