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<title>Angelman syndrome - Genes and Disease - NCBI Bookshelf</title>
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Angelman syndrome" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="2011/01/31" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22221/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Angelman syndrome" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="2011/01/31" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22221/" /><meta name="description" content="Angelman syndrome (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the "happy puppet" syndrome." /><meta name="og:title" content="Angelman syndrome" /><meta name="og:type" content="book" /><meta name="og:description" content="Angelman syndrome (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the "happy puppet" syndrome." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22221/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/angelmansyndrome/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22221/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22221_"><span class="title" itemprop="name">Angelman syndrome</span></h1><p class="small">Last Update: <span itemprop="dateModified">January 31, 2011</span>.</p></div><div class="body-content whole_rhythm" itemprop="text"><p>Angelman syndrome (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the "happy puppet" syndrome.</p><p>The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11-q13 on the maternally derived chromosome 15. When this same region is missing from the paternally derived chromosome, an entirely different disorder, Prader-Willi syndrome, results. This phenomenon—when the expression of genetic material depends on whether it has been inherited from the mother or the father—is termed genomic imprinting. </p><p>The ubiquitin ligase gene (UBE3A) is found in the AS chromosomal region. It codes for an enzyme that is a key part of a cellular protein degradation system. AS is thought to occur when mutations in UBE3A disrupt protein break down during brain development.
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</p><p>In a mouse model of AS, affected animals had much less maternally inherited UBE3A than their unaffected litter mates. However, this difference in UBE3A levels was only found in the hippocampus and the cerebellum, and not all of the brain. This animal model and other molecular techniques are helping us learn more about the disparate maternal and paternal expression of the UBE3A gene.</p><div id="angelmansyndrome.disease-categories"><h2 id="_angelmansyndrome_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A65/">See other Neonatal Diseases</a>
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<a href="/books/n/gnd/A75/">See other Diseases of the Nervous System</a>
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</div></li></ul></div><div class="bk_prnt_sctn"><h2>Figures</h2><div class="whole_rhythm bk_prnt_obj bk_first_prnt_obj"><div id="angelFigure" class="figure bk_fig"><div class="graphic"><img src="/books/NBK22221/bin/angel.jpg" alt="Chromosome painting. Chromosome painting techniques such as M-FISH tint each pair of the 24 human chromosomes a different color." /></div><h3><span class="label">Chromosome painting</span></h3><div class="caption"><p>Chromosome painting techniques such as M-FISH tint each pair of the 24 human chromosomes a different color. This allows the fragment (arrow head) to be identified as an extra piece of chromosome, since it is the same aqua color as the two normal copies of chromosome 15 (arrows). This technique may help in the diagnosis of genetic disorders that arise from chromosomal changes too subtle for conventional techniques.</p><p>Image reproduced with permission from Uhrig, S. et al. (1999) Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet. Aug; 65(2):448-62, published by the University of Chicago Press, copyright 1999 by the American Society for Human Genetics. All rights reserved.</p></div></div></div></div><div id="bk_toc_contnr"></div></div></div>
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