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首页> 外文期刊>Case Reports in Genetics >Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants
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Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

机译：复合型杂合子CACNA2D2变异导致的癫痫性脑病和小脑萎缩

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摘要

CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to CACNA2D2 mutations. In both reports, patients were homozygous for the identified variants. Here, we report a patient with epileptic encephalopathy and cerebellar atrophy who was found to have two novel variants in the CACNA2D2 gene c.782C>T (p.Pro261Leu) and c.3137T>C (p.Leu1046Pro), by whole-exome sequencing. The variants were shown to be inherited in trans and the unaffected parents were confirmed to be heterozygous carriers. This is the third report of recessive CACNA2D2 variants associated with disease and the first report of compound heterozygous variants. The clinical description of this new case highlights the phenotypic similarities amongst individuals with CACNA2D2-related disease and suggests that CACNA2D2 should be considered as a differential diagnosis in individuals with cerebellar dysfunction and multiple seizure types that begin in the first year of life.
机译：CACNA2D2编码电压依赖性钙通道的辅助亚基。迄今为止，仅有两篇关于因CACNA2D2突变而患有早期婴幼儿癫痫性脑病的报道。在这两个报告中，患者对于所鉴定的变体都是纯合的。在这里，我们报告了一名患有癫痫性脑病和小脑萎缩的患者，该患者通过全外显子组被发现在CACNA2D2基因c.782C> T（p.Pro261Leu）和c.3137T> C（p.Leu1046Pro）中具有两个新变异排序。该变体被证明是反式遗传的，并且未受影响的亲本被证实是杂合的携带者。这是与疾病相关的隐性CACNA2D2变异的第三次报告，也是复合杂合变异的第一份报告。该新病例的临床描述突显了与CACNA2D2相关疾病的个体在表型上的相似性，并建议将CACNA2D2作为小脑功能障碍和多种癫痫发作类型的诊断，应从生命的第一年开始。

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