一例UBE3A基因移码变异所致Angelman综合征的临床特征和遗传学分析

Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene

目的对1例临床表现为发育迟缓、癫痫的患儿进行临床和遗传学分析。方法对患儿进行临床和实验室检查,抽取患儿及其父母的外周血,应用高通量测序技术对患儿进行全外显子基因变异检测,并对疑似致病性变异进行患儿及其父母的Sanger测序验证及生物信息学分析。结果基因检测结果显示患儿的UBE3A基因存在c.1470delA(p.V491Ffs*6)杂合变异,父母均未携带此杂合变异,为新生变异。结论UBE3A基因c.1470delA(p.V491Ffs*6)杂合变异为患儿的遗传学病因。

Objective To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.Methods Clinical data of the patient was collected.Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing.Pathogenicity of the variant was predicted and validated.Results Sequencing results showed that the patient has carried a de novo c.1470delA(p.V491Ffs*6)variant of the UBE3A gene,which was predicted to be pathogenic.Conclusion The frameshift variant c.1470delA(p.V491Ffs*6)probably underlay the disorders in this child.