Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause
Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause
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中国儿童早发不明原因癫痫性脑病拷贝数变异分析
DOI：
10.1111/cge.12768
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发表时间：
2016
影响因子：
3.5
通讯作者：
Jing Peng
中科院分区：
文献类型：
--
作者：
Yuping Ma;Chao Chen;Ying Wang;Liwen Wu;Fang He;Chen Chen;Ciliu Zhang;Xiaolu Deng;Lifen Yang;Yun Chen;Lingqian Wu;Fei Yin;Jing Peng
拷贝数变异(CNVS)在不明原因早发性癫痫脑病(EOEEs)的遗传病因学中起着重要作用，但对中国EOEEs儿童基因组CNVS的分析还很少见。在这里，我们通过单核苷酸多态性阵列在116名患有不同亚型EOEs的患者中鉴定了CNV。在116例患者中，17例(14.66%)携带19个大的CNV。共有12名患者的14个CNV被进一步验证：其中4个CNV被归类为ASDE novo，7个是母亲的，3个是父亲的。12例患者中5例至少9个月未发作，5例每月或每年多次发作，2例每天发作。但有8名患者患有严重的发育迟缓。在这项研究中，我们发现至少3.4%的患者有致病性CNV。为患者家属的产前干预奠定了基础。此外，我们还发现了与EOEs相关的潜在候选基因。CNV与临床特征的关联将有助于对EOEE的理解。
Copy number variations (CNVs) play an important role in the genetic etiology of unknown cause early‐onset epileptic encephalopathies (EOEEs), but the genomic CNVs analysis of Chinese EOEEs children was rare. Here, we identified CNVs by single nucleotide polymorphism array in 116 patients with different subtypes of EOEEs. Of 116 patients 17 (14.66%) carried 19 large CNVs. A total of 14 CNVs in 12 patients were further validated: four of the CNVs were classified asde novo, seven were maternal, and three were paternal. Follow‐up of those 12 patients showed that 5 had been seizure‐free for at least 9 months, 5 had seizures several times per month or per year, and 2 had seizures everyday. But eight patients have profound developmental delay. In this study, we found at least 3.4% of patients had pathogenic CNVs. For the patients, our study laid the foundation for prenatal interventions for their families. Further, we identified potential candidate gene involved in EOEEs. The association of CNVs and clinical features will contribute to the understanding of EOEEs.