Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
复制标题
无pontocerebellar发育不全的VRK1突变患者的新型运动表型。
DOI：
10.1212/wnl.0000000000002813
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发表时间：
2016-07-05
期刊：
影响因子：
9.9
通讯作者：
Nicholson G
中科院分区：
文献类型：
--
作者：
Stoll M;Teoh H;Lee J;Reddel S;Zhu Y;Buckley M;Sampaio H;Roscioli T;Farrar M;Nicholson G
描述2个带有痘苗相关蛋白1(VRK1)突变的家系的表型，其中包括1个新的VRK1突变。在出现运动神经元疾病的患者中，通过全外显子测序发现了VRK1突变。我们在2个家系的受累成员中发现了VRK1基因的致病突变。在家系1中，在2个成年起病的远端脊肌萎缩症(SMA)同胞中发现了VRK1、c.356A和gt；G；p.H119R和c.1072C>；T；p.R358*的复合杂合突变。在家系2中，在1例运动神经元病患儿中发现了新的VRK1突变c.403G>；A；p.G135R和c.583T>；G；p.L195V。VRK1突变可以在没有桥小脑发育不良的儿童中产生成人起病的SMA和运动神经元疾病。
To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia.