Angelman Syndrome

By: Jeremiah Hornick

Name of Gene

UBE3A and it is Sex-linked so men are more likely to get it than females.

sex-linked=only on x chromosome

female=x,x male=x,y

female=x,xa= carrier of AS

female=xa,xa= has AS

male=xa,y= has AS, (no carrier for males)

Symptoms and Complications

  • A 6 - 12 month old may not start crawling or babbling.
  • not able to or minimal speech, ataxia,(can't walk, move or balance well).
  • seizures may occur at 2-3 years of age, movements may be stiff or jerky.
  • Out of 200,000 babies/year, 13 of them can get Angelman Syndrome.
  • They always have a happy personality
  • Microbracycephaly, (small head, flat on the back of the head), thrusting of the tongue
  • Hypopigmentation, (less pigmentation in the hair, skin, and eyes
  • Flapping their hands and lifting their arms while walking
  • Wide mouth and wide spaced teeth, drool a lot and more sensitive to heat

Treatment

  • there is no cure for Angelman Syndrome, but you can still treat the medical and development problems.
  • Anti-seizure medication controls the seizures and physical therapy helps with movement problems.
  • Behavior

Current Information

Topoisomerase Inhibitors, is a chemical compound that was found to be able to re-activate the ube3a gene, a;though it is still being research how much would be need for treatment.
Minocycline Trials, however at NLML in Tampa, Florida, a research group is trying to find a way to restore the ube3a gene, rather than re-activate it. This focusing on the treatment of AS, while the latter focuses on the mechanics of AS.

Facts

  1. Parental DNA pattern - looks for 3 of the 4 genetic mechanisms we know, that cause Angleman Syndrome
  2. Missing chromosomes - looks for missing chromosome
  3. Gene Mutation - looks for a mutated version of the UBE3A gene.