Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Neurology, People's Hospital of Dongxihu District, Wuhan, China.
Int J Dev Neurosci. 2020 Apr;80(2):157-161. doi: 10.1002/jdn.10013. Epub 2020 Feb 25.
The human WW domain containing oxidoreductase (WWOX) gene has been identified as a tumor suppressor gene. However, recent reports have demonstrated its dominant role in autosomal recessive disorders of the central nervous system, especially in early onset epileptic encephalopathy. Here, we report a Chinese case with novel compound heterozygous mutation of WWOX gene (c.229_230+2del mutation originated from her mother and c.1065dup (p.Ala356Serfs*173) variation from her father), and compare them to previously reported 59 WWOX-related epileptic encephalopathy (WOREE). Early onset and frequent epileptic seizures in the postnatal period, hypsarrhythmia patterns in EEG background and retarded development are the most important characteristics of WOREE in infants. Although the seizures in our case can be controlled by phenobarbital and topiramate, the prognosis of WOREE is poor.
人类 WW 结构域包含氧化还原酶（WWOX）基因已被鉴定为肿瘤抑制基因。然而，最近的报道表明其在常染色体隐性遗传的中枢神经系统疾病中起主要作用，尤其是在早发性癫痫性脑病中。在这里，我们报告了一个中国病例，该病例存在 WWOX 基因的新型复合杂合突变（来自其母亲的 c.229_230+2del 突变和来自其父亲的 c.1065dup（p.Ala356Serfs*173）变异），并将其与之前报道的 59 例 WWOX 相关癫痫性脑病（WOREE）进行了比较。早发性和频繁的出生后癫痫发作、脑电图背景的高波幅不规则慢波和发育迟缓是婴儿 WOREE 的最重要特征。虽然我们病例中的癫痫发作可以通过苯巴比妥和托吡酯控制，但 WOREE 的预后较差。
