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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" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</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" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </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><meta name="book-collection" content="NONE" />
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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 class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/gnd/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" alt="Cover of Genes and Disease" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>Genes and Disease [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK22221_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK22221_dtls__"><div>National Center for Biotechnology Information (US).</div><div>Bethesda (MD): <a href="https://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>; 1998-.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gnd/">Contents</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gnd/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/anemiasicklecell/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/asthma/" title="Next page in this title">Next ></a></div></div></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><div class="iconblock whole_rhythm clearfix ten_col fig" id="figangelFigure" co-legend-rid="figlgndangelFigure"><a href="/books/NBK22221/figure/angelFigure/?report=objectonly" target="object" title="Chromosome painting" class="img_link icnblk_img figpopup" rid-figpopup="figangelFigure" rid-ob="figobangelFigure"><img class="small-thumb" src="/books/NBK22221/bin/angel.gif" src-large="/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." /></a><div class="icnblk_cntnt" id="figlgndangelFigure"><h4 id="angelFigure"><a href="/books/NBK22221/figure/angelFigure/?report=objectonly" target="object" rid-ob="figobangelFigure">Chromosome painting</a></h4><p class="float-caption no_bottom_margin">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 <a href="/books/NBK22221/figure/angelFigure/?report=objectonly" target="object" rid-ob="figobangelFigure">(more...)</a></p></div></div><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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