Author: Daniel Philpott

Date: 16/09/2014

Angelman Syndrome
Also Known As: Happy Puppet Syndrome
First Reported By: Harry Angelman, in 1965
Abbreviation: AS
Symptoms: The consistent symptoms which are present in all cases include problems in development and delayed
development, mental disabilities, speech impairments or total dumbness, poor physical coordination, balance and
movement disorders, frequent laughter or smiling, and a generally happy, positive personality. Frequently present
symptoms, present in over 80% of cases include disproportionate growth in head circumference, seizures, and
extremely abnormal electrical activity along the scalp. Associated, but not always present, symptoms include
sleeplessness, a short attention span, easily excitable, loss of skin color, unaligned eyes, tongue-related disorders
and a protruding tongue, a fascination of water, arms lifted whilst walking, feeding problems whilst in infancy,
hyperactive tendon reflexes, increased chewing activity, flat head, smooth palms, drooling, prominent lower jaw,
wide mouth, wide spaces in-between teeth, and a reduced tolerance of heat. These symptoms are present in 2080% of cases.
Cause A: The cause of this syndrome is down to problems occurring concerning the genes of chromosome 15. It is
usually caused by the deletion of an entire segment of chromosome 15, which means that the maternal
contribution to that region of chromosome 15 is lost, which affects the human brain development. This is because
during brain development inside the womb, the maternal allele is, in unaffected humans, expressed while the
paternal allele is silenced. This means that the maternal allele is dominant during brain development, whilst the
paternal allele is recessive. It is crucial that this be the case for a normal and healthy brain development. However,
in affected humans, the maternal contribution has been deleted, as previously mentioned, therefore the brain does
not develop correctly, and this results in Angelman syndrome.
Cause B: Alternatively, Angelman Syndrome can be caused by the mutation of a single gene specifically the gene
UBE3A. UBE3A is present on both the chromosome received from the father and the chromosome received from the
mother, but differs slightly. If there is a genetic defect (commonly a deletion of a certain region of chromosome 15),
this can result in a gene mutation, and therefore the absence of that gene from certain parts of the brain the
paternally imprinted parts. This therefore affects brain development, and results in Angelman Syndrome. UBE3A (or
E6AP) is an enzyme which targets and breaks down proteins, and is encoded by the UBE3A gene.
Treatment: No cure is currently available, however there is treatment available for some of the symptoms such as
epilepsy.
Color Coded Key of Words Which Are Expressed Differently Above
Electroencephalography (EEG)
Ubiquitin Protein Ligase E3A
Strabismus
Hypopigmentation
Mandible
Bibliography (No copying and pasting, check Wikipedia for proof):
http://en.wikipedia.org/wiki/Angelman_syndrome
http://en.wikipedia.org/wiki/Genomic_imprinting
http://en.wikipedia.org/wiki/Chromosome_15_(human)
http://en.wikipedia.org/wiki/Strabismus
http://en.wikipedia.org/wiki/Hypopigmentation
http://en.wikipedia.org/wiki/Human_mandible
http://en.wikipedia.org/wiki/UBE3A
http://en.wikipedia.org/wiki/Electroencephalography
http://en.wikipedia.org/wiki/Prader%E2%80%93Willi_syndrome

Author: Daniel Philpott

Date: 16/09/2014