Angelman Syndrome: Difference between revisions
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|eng=Angelman syndrome}}</noinclude> | |eng=Angelman syndrome}}</noinclude> | ||
[[File:Angelman.jpg|thumb|''Chromosome 15'' - '''Angelman syndrome''']] | [[File:Angelman.jpg|thumb|''Chromosome 15'' - '''Angelman syndrome''']] | ||
*This syndrome is caused by the loss of function of ''gene UBE3A'' - just the maternal copy of this gene is functional. Thus loss of the maternal gene causes this | *This syndrome is caused by the loss of function of ''gene UBE3A'' - physiologically, just the maternal copy of this gene is functional (the paternal copy is imprinted, i.e. epigenetically silenced). Thus loss of the maternal gene causes this syndrome. The critical genomic region of this disorder is located on chromosome 15 (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-q13). This genetic disorder is connected especially with the nervous system. Children are affected in their early age. | ||
*''Typical symptoms'': developmental delay, speech problems, ataxia, epilepsy or microcephaly. | *''Typical symptoms'': severe intellectual disability and developmental delay, speech problems, ataxia, epilepsy or microcephaly. | ||
*Patients are sometimes called "'''happy puppets'''" because of their behavior. They | *Patients are sometimes called "'''happy puppets'''" because of their behavior. They smile frequently, laugh and have flapping movements. | ||
*Incidence of Angelman syndrome is ''1 in 12 000 - 20 000'' people worldwide. | *Incidence of Angelman syndrome is ''1 in 12 000 - 20 000'' people worldwide. | ||
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Revision as of 19:05, 5 January 2012
| English: Angelman syndrome |  |
- This syndrome is caused by the loss of function of gene UBE3A - physiologically, just the maternal copy of this gene is functional (the paternal copy is imprinted, i.e. epigenetically silenced). Thus loss of the maternal gene causes this syndrome. The critical genomic region of this disorder is located on chromosome 15 (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-q13). This genetic disorder is connected especially with the nervous system. Children are affected in their early age.
- Typical symptoms: severe intellectual disability and developmental delay, speech problems, ataxia, epilepsy or microcephaly.
- Patients are sometimes called "happy puppets" because of their behavior. They smile frequently, laugh and have flapping movements.
- Incidence of Angelman syndrome is 1 in 12 000 - 20 000 people worldwide.
Links
Related articles
Sources
Bibliography
- KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.
