Angelman syndrome is also known as Happy Puppet Syndrome. Rare disease, the development of the nervous system failed to progress as a normal person. This means Angelman syndrome patient will have abnormal brain function, speech impairment epilepsy, absence of speech and frequent smiling.

Due to malfunction of a gene called UBE3A (ubiquitin–protein ligase E3A) on chromosome 15q11.2–q13 in CNS (Central Nervous System).

Chromosome 15

Deletion/mutation of this gene causes Angelman Syndrome. Often maternally inherited.

UBE3A gene is also important in regulating sleep patterns (circadian clock) in a normal person. So, when the gene is a malfunction, the sleep pattern of the person is also affected.

For example, simple sound like fork vibration often resulted in wide smile and an outburst of laughter. Ref: OMIM

Phenotype:

Clinical features resembling Prader-Willi syndrome. Reference: Phenotype in patients with Angelman syndrome

Research Articles

Angelman syndrome — insights into a rare neurogenetic disorder.

Summary of the research article:

  • Characterized by microcephaly, severe intellectual deficit.

Mutation screening of the UBE3A gene in Chinese Han population with autism

Summary of the research article:

  • The report concluded that there is no association between the two detected known variants rs150331504 and rs71127053 and ASD (Autism spectrum disorder).
  • Mutation is not detected in coding regions of UBE3A gene.