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The following mechanisms can cause Angelman syndrome:
Genes Involved in Angelman Syndrome
Genetic Mechanisms in Angelman Syndrome
Angelman syndrome is a rare and complex genetic disorder characterized by several features, including developmental delay, movement problems, and speech impairment. Children with Angelman syndrome tend to be happy and excitable in demeanour, and may also experience epilepsy.
Angelman syndrome starts to manifest between 6-12 months of age, and probably affects 1 in 12000 to 1 in 20000 people worldwide. There is currently no known cure for Angelman syndrome. Some of the associated characteristics, such as excitability, reduce as the person gets older.
"Angelman syndrome ", published: 21st February 2010 [link widoczny dla zalogowanych], Genetics Home Reference website, accessed: 28th February 2010, no author specified.
"Angelman Syndrome ", updated: 5th September 2008, GeneReviews website, accessed: 23rd January 2010, author: Williams, Charles et al.
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Down Syndrome ― Basic Genetics
Chimerism and Mosaicism in Humans
Basic Genetics of the X Chromosome
Genetic Testing and Angelman Syndrome
A deletion, where the UBE3A gene portion of chromosome 15 is missing. This is the most commonly known cause of Angelman syndrome.A chromosome 15 rearrangement [link widoczny dla zalogowanych], such as a translocation. This is where portions of the chromosome are in the wrong order, which can affect gene expression.Uniparental disomy, where a child inherits both copies of chromosome 15 from the father.Genetic mutation, where the maternal copy of the UBE3A gene, or a nearby gene, is defective.
"Angelman syndrome ", National Center for Biotechnology Information website, accessed: 28th February 2010 [link widoczny dla zalogowanych], no author specified.
For more information on seeking genetic testing, read Understanding Genetic Consultation and Understanding Genetic Testing in Healthcare. Visit the Angelman Syndrome Foundation website for more details on symptoms, genetic mechanisms and testing.
Sometimes, gene expression depends on whether or not a gene copy was maternally or paternally contributed. This is called genomic imprinting. In some brain tissues, only the maternal copy of the UBE3A gene is supposed to be active. When this copy is missing, these brain tissues lose the function of the associated protein, resulting in Angelman syndrome.
The gene involved in Angelman syndrome is called UBE3A, and is located on chromosome 15. This gene codes ubiquitin protein ligase E3A, an enzyme that plays an important role in cell degradation. People typically inherit one copy of this gene from their mother, and one from their father. It is present in many tissues throughout the body.
Deletions, rearrangements and uniparental disomy happen randomly before or during early development. Mutations associated with Angelman syndrome can also be random. Rarely, such mutations can be inherited. A small number of cases of Angelman syndrome cannot be accounted for with these mechanisms, suggesting there may be other mechanisms involved.
There are tests available to detect some of the genetic mechanisms of Angelman syndrome. Due to the yet unknown genetic mechanisms, some cases cannot be confirmed with testing. Those interested in seeking advice may wish to contact a genetic counselor, who can provide information and support on genetic conditions.