An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
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DOI：
10.1002/mus.20890
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发表时间：
2008-01-01
期刊：
影响因子：
3.4
通讯作者：
Mirabella, Massimiliano
中科院分区：
文献类型：
--
作者：
Gidaro, Teresa;Modoni, Anna;Mirabella, Massimiliano
含缬氨酸蛋白基因（VCP）的突变是导致常染色体显性遗传性包涵体肌病与额颞叶痴呆和骨佩吉特病相关的原因。我们在一个意大利家庭中发现了VCP基因分离中的p.R155C错义突变，该家庭有三个受影响的兄弟姐妹，其中两个患有与痴呆相关的进行性肌病，而一个表现出进行性肌病和骨Paget病的临床前症状。我们的研究表明，VCP突变在意大利背景的患者中发现，甚至在相同的亲属关系中也可能导致可变的临床表型。
Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.