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The clinical discussion retains the source’s variant distinctions; deletion study counts are not transferred to this group.","importantHtml":"<ol class=\"sources-list\"><li><a href=\"https://www.ncbi.nlm.nih.gov/books/NBK1144/\" rel=\"noreferrer\">GeneReviews: Angelman Syndrome, May 1, 2025</a>. Clinical and gene-related context.</li></ol>"},"sections":[{"bodyHtml":"<p class=\"answer\">In most neurons, the UBE3A copy inherited from the mother is the active copy. Angelman can result when that copy is missing, changed or switched off.</p><div class=\"table-scroll\"><table class=\"\"><thead><tr><th scope=\"col\">Cause</th><th scope=\"col\">What happens</th></tr></thead><tbody><tr><th scope=\"row\">Maternal deletion</th><td>Part of the maternal chromosome 15, including UBE3A, is missing.</td></tr><tr><th scope=\"row\">Paternal uniparental disomy (UPD)</th><td>Both chromosome 15 copies came from the father rather than one from each parent.</td></tr><tr><th scope=\"row\">Imprinting defect</th><td>The maternal region has a pattern of gene activity that prevents normal maternal UBE3A activity.</td></tr><tr><th scope=\"row\">UBE3A variant</th><td>A disease-causing change affects the maternal UBE3A copy.</td></tr></tbody></table></div><p>Most cases are not inherited, although some UBE3A changes and changes in the region controlling gene activity can be passed through a family. Deletions that also involve OCA2 can contribute to lighter skin, hair and eyes.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/angelman-syndrome/\" rel=\"noreferrer\">MedlinePlus Genetics</a></p>","key":"forms","title":"How can different causes lead to Angelman syndrome?"},{"bodyHtml":"<p class=\"answer\">The broad description and feature table do not capture every genetic or age-related difference.</p><ul class=\"bullet-list\"><li><strong>Cause can help explain differences.</strong> Deletion groups generally have more marked motor, seizure and language involvement. These are group patterns, rather than limits on one person’s abilities.</li><li><strong>Some people have more speech than a general description suggests.</strong> Mosaic imprinting defects can leave some cells with a different pattern of gene activity and may be associated with better speech.</li><li><strong>Not every jerking movement is a seizure.</strong> Nonepileptic myoclonus is reported more often in teenagers and adults.</li></ul><p class=\"section-source\"><a href=\"https://www.ncbi.nlm.nih.gov/books/NBK1144/\" rel=\"noreferrer\">GeneReviews: clinical and gene-related differences</a></p>","key":"important","title":"Important differences"}],"sharedSources":[],"slug":"angelman","sourceDocuments":[{"name":"Angelman syndrome","reviewed":"2022-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:23.697669+00:00","label":"Causes","pageSha256":"6001de2f6bd91885f432dcdf15d6eb42e26df8faa9dd541fbe63ed2bb52a43ec","sourceUrl":"https://medlineplus.gov/genetics/condition/angelman-syndrome/#causes","status":"available","text":"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 (active) in most of the body's tissues. However, in nerve cells (neurons) in the brain and spinal cord (central nervous system), only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene variant (also known as a mutation), a person will have no active copies of the gene in most parts of the brain.\n\nSeveral different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 10 to 20 percent), Angelman syndrome is caused by a variant in the maternal copy of the UBE3A gene.\n\nIn a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a variant or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15.\n\nThe causes of Angelman syndrome are unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the disorder in these cases.\n\nIn some people who have Angelman syndrome, the loss of a gene called OCA2 is associated with light-colored hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that 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 (pigmentation) of the skin, hair, and eyes."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/angelman-syndrome"}],"sourceNote":"MedlinePlus Genetics: reviewed May 2022","takeawayHtml":"<strong>In brief:</strong> several genetic mechanisms can lead to the same diagnosis. Their effects on the maternal UBE3A copy help explain what they share.","title":"Angelman syndrome"},"schemaVersion":1}