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ANGELMAN SYNDROME- Is a complex genetic disorder that primarily affects the nervous system.                               TYPE:  is gene-based ,Is loss of function of a gene called UBE3A

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ANGELMAN SYNDROME- Is a complex genetic disorder that primarily affects the nervous system.                               TYPE:  is gene-based ,Is loss of function of a gene called UBE3A

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how the body is affected:
Angelman syndrome primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
What most affected children have:
Most affected children have recurrent seizures and a small head size.Most children also have a happy, excitable demeanor with frequent smiling, laughter, hand-flapping movements, Hyperactivity, a short attention span, and a fascination with water are common. most children also have a difficulty with sleeping and need less sleep than usual.

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https://www.eurordis.org/content/living-angelman-syndrome

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Angelman Syndrome - Story of Jane Villemoes

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Cecilie is doing well these days. She loves her school and Mr. Bean. "She is one of the rare Angelman children I know that can say a few words, and it is possible to understand her pretty clearly when she signs, talks and uses body language, even for people who do not know her," says Jane Villemoes.

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-Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. People normally inherit one copy of the  UBE3A gene from each parent. Both copies of this gene are turned on in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother  is active. If the maternal copy of the UBE3A gene is lost because of a chromosomal change a person will have no active copies of the gene in some parts of the brain.

In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father instead of one copy from each parent. These genetic changes can abnormally turn off UBE3A or other genes on the maternal copy of chromosome 15.

In some people who have Angelman syndrome, the loss of a gene called OCA2 associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15that is often deleted in people with this disorder. However, loss of the OCA2 gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine the coloring of the skin, hair, and eyes.

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Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy Rarely, a genetic change responsible for Angelman syndrome can be inherited. it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.

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Angelman syndrome affects 1 in 12,000 to 20,000 people