Angelman Syndrome Due to UBE3A Gene Mutation

被引：2

作者：

Goswami, Jyotindra Narayan ^{[1
]}

Sahu, Jitendra Kumar ^{[1
]}

Singhi, Pratibha ^{[1
]}

机构：

[1] Post Grad Inst Med Educ & Res, Dept Pediat, Pediat Neurol & Neurodev Unit, Chandigarh 160012, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2018年 / 85卷 / 05期

关键词：

Angelman syndrome; Happy Puppet syndrome; Ubiquitin Protein Ligase E3A; UBE3A; PRADER-WILLI;

D O I：

10.1007/s12098-017-2559-y

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis.

引用

页码：390 / 391

页数：2

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