Ottaviani V, Bartocci A, Pantaleo M, Giglio S, Cecconi M, Verrotti A, Merla G, Stangoni G, Prontera P
Genet Couns. 2015;26(3):327-32.
Myoclonicastatic epilepsy (MAE) is a rare form of symptomatic generalized epilepsy of uncertain etiology. To search the possible genetic basis of the disorder, here we investigate a 15 year-old patient with MAE, who is the only person presenting epilepsy in the family. High resolution array-CGH analysis was conducted on DNA extracted from peripheral blood of the patient and the parents. The copy number variant(s) (CNVs) identified were further confirmed by Fluorescent In Situ Hybridization (FISH). The array-CGH identified a de novo microduplication of about 778 Kb in the chromosome region 4q21.22-q21.23, involving 11 genes. This is the first report of a de novo CNV in MAE. The genes involved in the duplication are potential candidates that can be investigated in the future to determine their exact role in the etiopathogenesis of the disorder. However, we suggest performing microarray chromosomal analysis in patients with MAE, since rare de novo CNVs could be identified, and this is known to affect the diagnostic process and recurrence risk assessment.
肌阵挛-失张力癫痫（MAE）是一种病因不明的罕见症状性全身性癫痫。为了探寻该疾病可能的遗传基础，我们对一名15岁的MAE患者进行了研究，该患者是其家族中唯一患有癫痫的人。我们对从患者及其父母外周血中提取的DNA进行了高分辨率阵列比较基因组杂交（array-CGH）分析。通过荧光原位杂交（FISH）进一步确认了所鉴定的拷贝数变异（CNV）。阵列比较基因组杂交分析在染色体区域4q21.22-q21.23中发现了一个约778 Kb的新发微重复，涉及11个基因。这是关于MAE中一个新发CNV的首次报道。该重复中涉及的基因是潜在的候选基因，未来可对其进行研究以确定它们在该疾病病因发病机制中的确切作用。然而，我们建议对MAE患者进行微阵列染色体分析，因为可能会鉴定出罕见的新发CNV，并且已知这会影响诊断过程和复发风险评估。
