Angelman Syndrome Due to UBE3A Gene Mutation
- 112 Downloads
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.
KeywordsAngelman syndrome Happy Puppet syndrome Ubiquitin Protein Ligase E3A UBE3A
JNG: Patient management, literature review and preparation of draft manuscript; JKS: Supervision of patient management and final approval of manuscript; PS: Clinician-in-charge of patient management, final approval of manuscript and will act as guarantor for this paper.
Compliance with Ethical Standards
Conflict of Interest
Source of Funding
- 4.Veltman MWM, Craig EE, Bolton PF. Autism spectrum disorders in Prader–Willi and Angelman syndrome: a systematic review. Psychiatr Genet. 2005;15:243–54.Google Scholar