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The Indian Journal of Pediatrics

, Volume 85, Issue 5, pp 390–391 | Cite as

Angelman Syndrome Due to UBE3A Gene Mutation

  • Jyotindra Narayan Goswami
  • Jitendra Kumar Sahu
  • Pratibha Singhi
Clinical Brief

Abstract

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.

Keywords

Angelman syndrome Happy Puppet syndrome Ubiquitin Protein Ligase E3A UBE3A 

Notes

Contributions

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

None.

Source of Funding

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Jyotindra Narayan Goswami
    • 1
  • Jitendra Kumar Sahu
    • 1
  • Pratibha Singhi
    • 1
  1. 1.Pediatric Neurology and Neurodevelopment Unit, Department of PediatricsPost Graduate Institute of Medical Education & ResearchChandigarhIndia

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