Kapoor Dipti, Majethia Purvi, Anand Aakanksha, Shukla Anju, Sharma Suvasini
Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, India.
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Epilepsy Behav Rep. 2021 Sep 21;16:100485. doi: 10.1016/j.ebr.2021.100485. eCollection 2021.
Biallelic variants in (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been reported with variants in . Herein, we present an 11-year-old boy who presented with neuroregression, dysfluent speech, aggressive behavior and tremors for 2 years. An electroencephalogram (EEG) revealed a highly abnormal background with generalized spike-and-wave discharges suggestive of Electrical Status Epilepticus during Sleep (ESES). A known homozygous c.655G > A(p.Ala219Thr) pathogenic variant in exon 6 of the (NM_024537.4) was identified on exome sequencing. Our report expands the electro-clinical spectrum of the phenotype with presence of severe behavioral abnormalities, continuous tremors and ESES pattern on EEG, not previously reported.
已知（半胱氨酰 - tRNA合成酶2；MIM * 612800）的双等位基因变异会导致联合氧化磷酸化缺陷27（MIM # 616672），其特征为严重肌阵挛性癫痫、神经退行性变和复杂运动障碍。迄今为止，已报道了来自五个家庭的六名携带该基因变异的个体。在此，我们报告一名11岁男孩，他出现神经退行性变、言语不流畅、攻击性行为和震颤2年。脑电图（EEG）显示背景高度异常，伴有广泛性棘波和慢波放电，提示睡眠期癫痫性电持续状态（ESES）。在外显子组测序中，在（NM_024537.4）的第6外显子中鉴定出一个已知的纯合c.655G＞A（p.Ala219Thr）致病变异。我们的报告扩展了该表型的电临床谱，出现了严重行为异常、持续性震颤和脑电图上的ESES模式，此前未见报道。
