Angelman syndrome

Common Name(s)

Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that causes developmental delay, intellectual disability, speech problems, seizures (epilepsy), and problems with movement and balance (ataxia). Individuals with AS have happy and excitable personalities, are frequently smiling and laughing, and usually flap their hands when they are excited. Most children with AS have difficulty sleeping. Other features of AS include an abnormal curve to the spine (scoliosis), a small head size (microcephaly), and light hair, skin and eyes. Certain facial features can be noticed in adults with AS, including deep-set eyes, widely spaced teeth, and a wide smile. People with AS tend to live a normal lifespan.

AS is caused by changes to the UBE3A gene, located on chromosome 15. People have two copies of the UBE3A gene, one they inherit from their mother and one from their father. The mother’s copy is normally turned on in the brain while the father’s copy is turned off. If a child has a change that causes the mother’s copy to be turned off, they will have no working copies and will then have AS. Most cases of AS are due to a child missing their mother’s copy of UBE3A (deletion). In some cases, the child has a change (mutation) in the mother’s copy of UBE3A; and in others, a child inherits both copies of UBE3A from their father and none from their mother (uniparental disomy).

Symptoms of AS are usually not present until 6 months of age. Trouble with crawling and talking are usually the first signs of developmental delay. Seizures appear around age 2. A diagnosis of AS is normally confirmed with genetic testing. There is not a cure for AS, but therapies are available to help a child reach their developmental potential. There are also medications to help control seizures. If your child has been diagnosed with AS, talk to their doctor about the most current treatment options. Support groups can connect you with other families affected by AS.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Angelman syndrome" for support, advocacy or research.

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Angelman syndrome" for support, advocacy or research.

Angelman Syndrome Foundation

The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman Syndrome through education, information, support, advocacy and research.

http://www.angelman.org

Last Updated: 9 Nov 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Angelman syndrome" returned 102 free, full-text research articles on human participants. First 3 results:

Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.
 

Author(s): Linyan Meng, Richard Erwin Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L Beaudet

Journal: PLoS Genet.. 2013 ;9(12):e1004039.

 

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated ...

Last Updated: 3 Jan 2014

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The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
 

Author(s): Kathryn H Condon, Jianghai Ho, Camenzind G Robinson, Cyril Hanus, Michael D Ehlers

Journal: J. Neurosci.. 2013 Feb;33(9):3799-814.

 

Angelman syndrome (AS) is a severe disorder of postnatal brain development caused by neuron-specific loss of the HECT (homologous to E6AP carboxy terminus) domain E3 ubiquitin ligase Ube3a/E6AP. The cellular role of Ube3a remains enigmatic despite recent descriptions of synaptic and ...

Last Updated: 28 Feb 2013

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Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.
 

Author(s): Sara Rodriguez-Jato, Jixiu Shan, Jyoti Khadake, Arnold D Heggestad, Xiaojie Ma, Karen A Johnstone, James L Resnick, Thomas P Yang

Journal: PLoS ONE. 2013 ;8(2):e52390.

 

The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least 8 imprinted genes regulated by a bipartite imprinting center (IC) associated with the SNRPN gene. One component of the IC, the PWS-IC, governs the paternal epigenotype and expression of paternal genes. The mechanisms ...

Last Updated: 7 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Angelman syndrome" returned 10 free, full-text review articles on human participants. First 3 results:

The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders.
 

Author(s): Barbara J Bailus, David J Segal

Journal:

 

Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding ...

Last Updated: 25 Jun 2014

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Understanding the pathogenesis of Angelman syndrome through animal models.
 

Author(s): Nihar Ranjan Jana

Journal: Neural Plast.. 2012 ;2012():710943.

 

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, lack of speech, ataxia, susceptibility to seizures, and unique behavioral features such as easily provoked smiling and laughter and autistic features. The disease is primarily caused ...

Last Updated: 25 Jul 2012

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
 

Author(s): Angela M Mabb, Matthew C Judson, Mark J Zylka, Benjamin D Philpot

Journal: Trends Neurosci.. 2011 Jun;34(6):293-303.

 

Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe ...

Last Updated: 1 Jun 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Angelman Syndrome
 

Status: Recruiting

Condition Summary: Angelman Syndrome

 

Last Updated: 4 Nov 2014

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SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
 

Status: Recruiting

Condition Summary: 22q11 Deletion Syndrome; DiGeorge Syndrome; Trisomy 21; Trisomy 18; Trisomy 13; Monosomy X; Sex Chromosome Abnormalities; Cri-du-Chat Syndrome; Angelman Syndrome; Prader-Willi Syndrome; 1p36 Deletion Syndrome

 

Last Updated: 1 Jun 2015

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Last Updated: 29 Jul 2015

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