Beleza-Meireles Ana, Cerqueira Rita, Sousa Sérgio B, Palmeiro Aida, Ramos Lina
Department of Clinical Genetics, Coimbra Paediatrics Hospital, Coimbra 3000-076, Portugal.
Eur J Med Genet. 2011 May-Jun;54(3):348-50. doi: 10.1016/j.ejmg.2011.02.010. Epub 2011 Mar 10.
Angelman syndrome (AS) is characterised by severe developmental delay, severe speech impairment, gait ataxia and/or limb tremor and a unique behavioural phenotype. The diagnosis of AS is based on a combination of clinical features and molecular genetic testing. Currently, molecular genetic testing (methylation analysis and UBE3A sequence analysis) identifies anomalies in about 90% of individuals. The aetiology of the remaining 10% is still unknown. We report a novel deletion encompassing the exons 5-12 of the UBE3A gene in a girl with AS, identified by MLPA (Multiplex Ligation-dependent Probe Amplification), which was not detected by the conventional diagnostic protocol. We propose that copy number analysis of the UBE3A gene should be considered in individuals whose clinical examination is strongly suggestive of AS, after more common mechanisms have been excluded.
天使综合征（AS）的特征为严重发育迟缓、严重语言障碍、步态共济失调和/或肢体震颤以及独特的行为表型。AS的诊断基于临床特征和分子遗传学检测相结合。目前，分子遗传学检测（甲基化分析和UBE3A序列分析）在约90%的个体中识别出异常。其余10%的病因仍不清楚。我们报告了一名患有AS的女孩，通过多重连接依赖探针扩增（MLPA）鉴定出一个包含UBE3A基因外显子5 - 12的新型缺失，这在常规诊断方案中未被检测到。我们建议，在排除更常见的机制后，对于临床检查强烈提示AS的个体，应考虑对UBE3A基因进行拷贝数分析。
