GNAO1-associated epileptic encephalopathy and movement disorders: c.607G> A variant represents a probable mutation hotspot with a distinct phenotype
GNAO1-associated epileptic encephalopathy and movement disorders: c.607G> A variant represents a probable mutation hotspot with a distinct phenotype
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DOI：
10.1684/epd.2017.0888
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发表时间：
2017-03-01
影响因子：
2.3
通讯作者：
Holland, Katherine D.
中科院分区：
文献类型：
--
作者：
Arya, Ravindra;Spaeth, Christine;Holland, Katherine D.
我们描述了一例GNAO 1相关癫痫和舞蹈病患者的新发致病性突变。这名患者是唯一的，是第一个报告的男性与这种表型，我们建议，这种遗传变异可能代表一个突变热点的特点是一个独特的表型。这个5.2岁的男孩表现为癫痫发作、舞蹈病和严重的全面发育迟缓。脑成像显示进行性弥漫性脑萎缩。脑电图监测显示多灶性和弥漫性放电，沿着全身性发作。基因检测发现了GNAO 1基因中的一种新生致病性变体（c. 607G> A; p.Gly203Arg）。文献综述显示另外两名患者具有相似的表型和相同的遗传变异。相比之下，其他神经系统受累的患者在GNAO 1基因中有私人突变。与GNAO 1突变相关的神经学表型似乎位于一个谱上，并且可能c. 607 G> A（p.Gly203Arg）变异体表征了具有严重癫痫和舞蹈病的表型。[在www上发布视频序列。癫痫病com]
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures. Genetic testing found a de novo pathogenic variant in the GNAO1 gene (c. 607G> A; p. Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1 gene. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c. 607G> A (p. Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on www. epilepticdisorders. com]