Sartori Stefano, Anesi Laura, Polli Roberta, Toldo Irene, Casarin Alberto, Drigo Paola, Murgia Alessandra
Pediatric Neurology Unit, University of Padua, Padova, Italy.
J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16.
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelman syndrome critical region; it is caused by large deletions, paternal uniparental disomy, imprinting center defects or UBE3A deletions, and point mutations. We found a novel splice-site mutation of the UBE3A gene in a child with clinical and EEG features of Angelman syndrome. This case further points out the fact that individuals with Angelman syndrome and mutations of the UBE3A gene have a phenotype that tends to be rather mild, however, undistinguishable, both from the clinical and the electrophysiological points of view, from the Angelman syndrome phenotype due to other known molecular mechanisms.
天使综合征是一种神经发育障碍，其特征为智力迟钝、无语言能力、癫痫发作、脑电图（EEG）异常以及性格开朗。该综合征是由于印记的普拉德-威利/天使综合征关键区域上母源UBE3A基因功能缺失所致；其病因包括大片段缺失、父源单亲二体、印记中心缺陷或UBE3A基因缺失以及点突变。我们在一名具有天使综合征临床和脑电图特征的儿童中发现了一种新的UBE3A基因剪接位点突变。该病例进一步指出，患有天使综合征且有UBE3A基因突变的个体，其表型往往较为轻微，然而，从临床和电生理角度来看，与由其他已知分子机制导致的天使综合征表型并无差异。
