Angelman syndrome is a neuro-genetic disorder characterized by intellectual and development delay, sleep disturbance, seizers, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor [5]

  • UBE3A is the Angelman Sydnrome gene. [8]
  • "In patients with Angelman Syndrome, a missing UBE3A gene only occurs in the chromosome given by the mother.  For this reason, it seems that the UBE3A gene is turned on only on the chromosome inherited from mother.  Researchers have also found that Angelman Syndrome is caused when a child inherits both chromosomes 15 from the father."  [8]

The picture above is a child with Angelman syndrome.

  • deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. [6]
  • Developmental delays are first noted at around six months of age; however, the unique clinical features of Angelman Syndrome do not become apparent until after the child is of one year of age, and it can take several years before the correct clinical diagnosis is obvious. [6]

Symptoms [8]

  • stiff, unstable jerky gait
  • absen or diminished speech skills
  • hand flapping
  • excessive laughter
  • unusally happy demeanor
  • developmental delay
  • small head size (microcephaly)
  • But, some patients may develop epilepsy and have problems with balance.

Percentage of People of how they get Angelman Syndrome [10]

  1. 70% of people with Angelman Syndrome get it because they have a deletion of the copied chromosome 15 for ones parents.
  2. 3-7% of cases of Angelman Syndrome, the child inherits two copies of chromosome 15 from one's father, instead of one copy from the mother and father. When two copies of chromosome are only inherited by the father, therefore the chromosome is inactive in the brain.
  3. 10% of patients with Angelman Syndrome get by a mutation in UBE3A gene.
  4. 3% get it due to a defect in the DNA region that "controls the activiation of the UBE3A gene and other genes on the maternal copy of chromosome 15".
  5. "A small percentage of patients with Angelman Syndrome get it by a chromosomal rearragement (translocation) or by a mutation in a gene other than UBE3A".




Twin Studies

  • Recent studies involving both dizygotic and monozygotic twins have produced some evidence of epigenetic influence in humans. [7]

The picture above, is the study of twins with epigenetics disorder like: Angelman syndrome, etc. It is the study of 3-year old twins compared to 50-year old twins, to see the difference between the chromosomes of both pairs of twins. Also, to show the difference between the twins individualy. [7]

Want to know more about Angelman Syndrome from the Foundation of Angelman Syndrom Therapeutics (FAST) Click Here!

The picture above, is a person with Angelman Syndrome and the person has an extra chromosome in Chromosome 15. It has mutated which has caused the person to be born with Angelman Syndrome, due to the extra chromosome.  [9]

Famous person with a child that has Angelman Syndrome 

 Collin Farrell's son, James, has Angelman Syndrome.

The picture below is James. [11]





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