CHD2-related epilepsy: novel mutations and new phenotypes
CHD2-related epilepsy: novel mutations and new phenotypes
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DOI：
10.1111/dmcn.14367
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发表时间：
2020-05-01
影响因子：
3.8
通讯作者：
Zhang, Yuehua
中科院分区：
文献类型：
--
作者：
Chen, Jiaoyang;Zhang, Jing;Zhang, Yuehua
本报告的目的是提炼染色体解旋酶DNA结合蛋白2(CHD2)相关癫痫的基因类型和表型。17例CHD2突变患者入选。应用下一代癫痫测序或全外显子测序鉴定CHD2突变。共鉴定出16个突变，其中15个尚未报告。13个突变是新发现的。发病年龄从3个月到10岁5个月不等。观察到的癫痫发作有全身性强直阵挛、肌阵挛、无张力、不典型缺失、局灶性发作和肌阵挛无张力。2例患者出现癫痫痉挛。14例患者存在发育障碍。观察了7例患者的孤独症特征。视频脑电异常者15例。诊断为非特异性癫痫脑病5例，癫痫伴肌阵挛-紧张性发作2例，Lennox-Gastaut综合征2例，热性惊厥2例，West综合征1例。9例癫痫发作得到控制。Q1392TfsX17可能是CHD2的热点突变。West综合征是CHD2突变的一种新表型。CHD2突变表型的严重程度从轻度热性惊厥到重度癫痫脑病不等，本文补充说Q1392TfsX17可能是CHD2的热点突变，West综合征可能是CHD2突变的一种新表型。
The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. Sixteen mutations were identified, among which 15 have not yet been reported. Thirteen mutations were de novo. Age at seizure onset ranged from 3 months to 10 years 5 months. Seizures observed were generalized tonic-clonic, myoclonic, atonic, atypical absence, focal, and myoclonic-atonic. Epileptic spasms occurred in two patients. Developmental disability was present in 14 patients. Autism features were observed in seven patients. Video electroencephalogram was abnormal in 15 patients. Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with Lennox-Gastaut syndrome, two with febrile seizures plus, and one with West syndrome. Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy.What this paper addsQ1392TfsX17 maybe the hot-spot mutation of CHD2.West syndrome could be a new phenotype of CHD2 mutation.