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yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK22221_"><span class="title" itemprop="name">Angelman syndrome</span></h1><p class="fm-aai"><a href="#_NBK22221_pubdet_">Publication Details</a></p></div></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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<a href="/books/n/gnd/A65/?report=reader">See other Neonatal Diseases</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A75/?report=reader">See other Diseases of the Nervous System</a>
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</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK22221_pubdet_">Publication Details</h2><h3>Publication History</h3><p class="small">Last Update: <span itemprop="dateModified">January 31, 2011</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div></div><h3>Publisher</h3><p><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>, Bethesda (MD)</p><h3>NLM Citation</h3><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Angelman syndrome. [Updated 2011 Jan 31].<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gnd/anemiasicklecell/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gnd/asthma/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="fig" id="figobangelFigure"><div id="angelFigure" class="figure bk_fig"><div class="graphic"><img data-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></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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