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Entry
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- #300496 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
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- OMIM
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<p>
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<span class="h4">#300496</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/300496"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=AUTISM, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1497/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7770" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300496[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA001815/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="number" class="mim-anchor"></a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300496
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/X/851?start=-3&limit=10&highlight=851">
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Xq28
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</a>
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<td>
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<span class="mim-font">
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{Autism susceptibility, X-linked 3}
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300496"> 300496 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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MECP2
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<td>
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<span class="mim-font">
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<a href="/entry/300005"> 300005 </a>
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</span>
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</td>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300496" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300496" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300496" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Impaired social interaction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88598008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88598008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F80.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F80.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4022736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4022736</a>, <a href="https://bioportal.bioontology.org/search?q=C0150080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0150080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012760</a>]</span><br /> -
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Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837648&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837648</a>]</span><br /> -
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Lack of peer relationships <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845337</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002332</a>]</span><br /> -
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Impaired language development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
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Lack of spontaneous play <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000721</a>]</span><br /> -
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Restrictive behavior, interests, and activities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000723</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000723</a>]</span><br /> -
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Stereotyped, repetitive behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84328007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84328007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038271</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000733</a>]</span><br /> -
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Inflexible adherence to routines or rituals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5826341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5826341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000732" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000732</a>]</span><br /> -
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Mental retardation in 75% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837684</a>]</span><br /> -
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Seizures in 15-30% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837685</a>]</span><br /> -
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EEG abnormalities in 20-50% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837686</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased serum serotonin in 25% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837688</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset by 3 years of age<br /> -
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Male to female ratio 4:1<br /> -
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Occurs in 2-5 per 10,000 individuals<br /> -
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Genetic heterogeneity (see <a href="/entry/209850">209850</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Associated with tuberous sclerosis (<a href="/entry/191100">191100</a>)<br /> -
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Associated with untreated phenylketonuria (<a href="/entry/261600">261600</a>)<br /> -
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Genetic heterogeneity (see <a href="/entry/209850">209850</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Allelic disorder to Rett syndrome (<a href="/entry/312750">312750</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Susceptibility conferred by mutation in the methyl-CpG binding protein-2 gene (MECP2, <a href="/entry/300005#0011">300005.0011</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked autism-3 (AUTSX3) is associated with mutation in the MECP2 gene (<a href="/entry/300005">300005</a>) on Xq28.</p>
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</span>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (<a href="#1" class="mim-tip-reference" title="Bailey, A., Phillips, W., Rutter, M. <strong>Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives.</strong> J. Child Psychol. Psychiat. 37: 89-126, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8655659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8655659</a>] [<a href="https://doi.org/10.1111/j.1469-7610.1996.tb01381.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8655659">Bailey et al., 1996</a>; <a href="#6" class="mim-tip-reference" title="Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., Nguyen, L., Yang, J., and 19 others. <strong>A genomic screen of autism: evidence for a multilocus etiology.</strong> Am. J. Hum. Genet. 65: 493-507, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417292</a>] [<a href="https://doi.org/10.1086/302497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10417292">Risch et al., 1999</a>). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; <a href="/entry/608638">608638</a>) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (<a href="#4" class="mim-tip-reference" title="Jones, J. R., Skinner, C., Friez, M. J., Schwartz, C. E., Stevenson, R. E. <strong>Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.</strong> Am. J. Med. Genet. 146A: 2213-2220, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698615</a>] [<a href="https://doi.org/10.1002/ajmg.a.32396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18698615">Jones et al., 2008</a>). Genetic studies in autism often include family members with these less stringent diagnoses (<a href="#7" class="mim-tip-reference" title="Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., Leong, L., Yu, C.-E., Stodgell, C., Rodier, P. M., Spence, M. A., Minshew, N., McMahon, W. M., Wijsman, E. M. <strong>Evidence for multiple loci from a genome scan of autism kindreds.</strong> Molec. Psychiat. 11: 1049-1060, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16880825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16880825</a>] [<a href="https://doi.org/10.1038/sj.mp.4001874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16880825">Schellenberg et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10417292+16880825+8655659+18698615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of autism, see <a href="/entry/209850">209850</a>.</p>
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<br />
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><a href="#5" class="mim-tip-reference" title="Lam, C. W., Yeung, W. L., Ko, C. H., Poon, P. M., Tong, S. F., Chan, K. Y., Lo, I. F., Chan, L. Y., Hui, J., Wong, V., Pang, C. P., Lo, Y. M., Fok, T. F. <strong>Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.</strong> J. Med. Genet. 37: E41, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106359</a>] [<a href="https://doi.org/10.1136/jmg.37.12.e41" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11106359">Lam et al. (2000)</a> and <a href="#2" class="mim-tip-reference" title="Carney, R. J., Vance, J. M., Dancel, R. D., Wolpert, C. M., DeLong, G. R., McLain, C., von Wendt, L., Gilbert, J. R., Donelly, S. L., Ravan, S. A., Abel, H. L., Abramson, R. K., Wright, H. H., Zoghbi, H. Y., Cuccaro, M. L., Pericac-Vance, M. A. <strong>Screening for MECP2 mutations in females with autistic disorder.</strong> Europ. J. Hum. Genet. 9: P1329 only, 2001."None>Carney et al. (2001)</a> identified mutations in the MECP2 gene in sporadic cases of autism, whereas no mutations in the MECP2 gene were found in a sample of 59 autistic individuals by <a href="#8" class="mim-tip-reference" title="Vourc'h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthelemy, C., Muh, J. P., Andres, C. <strong>No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.</strong> Europ. J. Hum. Genet. 9: 556-558, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11464249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11464249</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11464249">Vourc'h et al. (2001)</a>. In 2 of 69 females with autism, <a href="#3" class="mim-tip-reference" title="Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A. <strong>Identification of MeCP2 mutations in a series of females with autistic disorder.</strong> Pediat. Neurol. 28: 205-211, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12770674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12770674</a>] [<a href="https://doi.org/10.1016/s0887-8994(02)00624-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12770674">Carney et al. (2003)</a> identified 2 different de novo mutations in the MECP2 gene (<a href="/entry/300005#0011">300005.0011</a>; <a href="/entry/300005#0012">300005.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11464249+11106359+12770674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with autism, <a href="#9" class="mim-tip-reference" title="Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., D'Gama, A. M., Lim, E. T., and 37 others. <strong>Using whole-exome sequencing to identify inherited causes of autism.</strong> Neuron 77: 259-273, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23352163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23352163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23352163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.neuron.2012.11.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23352163">Yu et al. (2013)</a> identified a nonsense mutation in the MECP2 gene (E483X; <a href="/entry/300005#0039">300005.0039</a>) that had been inherited from their unaffected mother. The mutation was a late truncation that was predicted to remove only the last 4 amino acids of the full-length protein, which accounted for the brothers' survival and their mild phenotypic manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23352163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Carney, R. J., Vance, J. M., Dancel, R. D., Wolpert, C. M., DeLong, G. R., McLain, C., von Wendt, L., Gilbert, J. R., Donelly, S. L., Ravan, S. A., Abel, H. L., Abramson, R. K., Wright, H. H., Zoghbi, H. Y., Cuccaro, M. L., Pericac-Vance, M. A.
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<strong>Screening for MECP2 mutations in females with autistic disorder.</strong>
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Europ. J. Hum. Genet. 9: P1329 only, 2001.
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Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A.
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<strong>Identification of MeCP2 mutations in a series of females with autistic disorder.</strong>
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Pediat. Neurol. 28: 205-211, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12770674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12770674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12770674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0887-8994(02)00624-0" target="_blank">Full Text</a>]
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Jones, J. R., Skinner, C., Friez, M. J., Schwartz, C. E., Stevenson, R. E.
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<strong>Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18698615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18698615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18698615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32396" target="_blank">Full Text</a>]
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Lam, C. W., Yeung, W. L., Ko, C. H., Poon, P. M., Tong, S. F., Chan, K. Y., Lo, I. F., Chan, L. Y., Hui, J., Wong, V., Pang, C. P., Lo, Y. M., Fok, T. F.
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<strong>Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.</strong>
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J. Med. Genet. 37: E41, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11106359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11106359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11106359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., Nguyen, L., Yang, J., and 19 others.
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Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., Leong, L., Yu, C.-E., Stodgell, C., Rodier, P. M., Spence, M. A., Minshew, N., McMahon, W. M., Wijsman, E. M.
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Vourc'h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthelemy, C., Muh, J. P., Andres, C.
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<strong>No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.</strong>
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Europ. J. Hum. Genet. 9: 556-558, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11464249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11464249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11464249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200660" target="_blank">Full Text</a>]
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Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., D'Gama, A. M., Lim, E. T., and 37 others.
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<strong>Using whole-exome sequencing to identify inherited causes of autism.</strong>
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Neuron 77: 259-273, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23352163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23352163</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23352163[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23352163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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Xq28
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<td>
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<span class="mim-font">
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{Autism susceptibility, X-linked 3}
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</span>
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</td>
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<td>
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<span class="mim-font">
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300496
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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MECP2
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</span>
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</td>
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<span class="mim-font">
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300005
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked autism-3 (AUTSX3) is associated with mutation in the MECP2 gene (300005) on Xq28.</p>
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</span>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). </p><p>For a discussion of genetic heterogeneity of autism, see 209850.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lam et al. (2000) and Carney et al. (2001) identified mutations in the MECP2 gene in sporadic cases of autism, whereas no mutations in the MECP2 gene were found in a sample of 59 autistic individuals by Vourc'h et al. (2001). In 2 of 69 females with autism, Carney et al. (2003) identified 2 different de novo mutations in the MECP2 gene (300005.0011; 300005.0012). </p><p>In 2 brothers with autism, Yu et al. (2013) identified a nonsense mutation in the MECP2 gene (E483X; 300005.0039) that had been inherited from their unaffected mother. The mutation was a late truncation that was predicted to remove only the last 4 amino acids of the full-length protein, which accounted for the brothers' survival and their mild phenotypic manifestations. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Bailey, A., Phillips, W., Rutter, M.
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<strong>Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives.</strong>
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J. Child Psychol. Psychiat. 37: 89-126, 1996.
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[PubMed: 8655659]
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[Full Text: https://doi.org/10.1111/j.1469-7610.1996.tb01381.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Carney, R. J., Vance, J. M., Dancel, R. D., Wolpert, C. M., DeLong, G. R., McLain, C., von Wendt, L., Gilbert, J. R., Donelly, S. L., Ravan, S. A., Abel, H. L., Abramson, R. K., Wright, H. H., Zoghbi, H. Y., Cuccaro, M. L., Pericac-Vance, M. A.
|
|
<strong>Screening for MECP2 mutations in females with autistic disorder.</strong>
|
|
Europ. J. Hum. Genet. 9: P1329 only, 2001.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A.
|
|
<strong>Identification of MeCP2 mutations in a series of females with autistic disorder.</strong>
|
|
Pediat. Neurol. 28: 205-211, 2003.
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[PubMed: 12770674]
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[Full Text: https://doi.org/10.1016/s0887-8994(02)00624-0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Jones, J. R., Skinner, C., Friez, M. J., Schwartz, C. E., Stevenson, R. E.
|
|
<strong>Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.</strong>
|
|
Am. J. Med. Genet. 146A: 2213-2220, 2008.
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|
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[PubMed: 18698615]
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[Full Text: https://doi.org/10.1002/ajmg.a.32396]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Lam, C. W., Yeung, W. L., Ko, C. H., Poon, P. M., Tong, S. F., Chan, K. Y., Lo, I. F., Chan, L. Y., Hui, J., Wong, V., Pang, C. P., Lo, Y. M., Fok, T. F.
|
|
<strong>Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.</strong>
|
|
J. Med. Genet. 37: E41, 2000.
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|
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[PubMed: 11106359]
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[Full Text: https://doi.org/10.1136/jmg.37.12.e41]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., Nguyen, L., Yang, J., and 19 others.
|
|
<strong>A genomic screen of autism: evidence for a multilocus etiology.</strong>
|
|
Am. J. Hum. Genet. 65: 493-507, 1999.
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|
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|
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[PubMed: 10417292]
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[Full Text: https://doi.org/10.1086/302497]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., Leong, L., Yu, C.-E., Stodgell, C., Rodier, P. M., Spence, M. A., Minshew, N., McMahon, W. M., Wijsman, E. M.
|
|
<strong>Evidence for multiple loci from a genome scan of autism kindreds.</strong>
|
|
Molec. Psychiat. 11: 1049-1060, 2006.
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|
|
[PubMed: 16880825]
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|
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[Full Text: https://doi.org/10.1038/sj.mp.4001874]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Vourc'h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthelemy, C., Muh, J. P., Andres, C.
|
|
<strong>No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.</strong>
|
|
Europ. J. Hum. Genet. 9: 556-558, 2001.
|
|
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|
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[PubMed: 11464249]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200660]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., D'Gama, A. M., Lim, E. T., and 37 others.
|
|
<strong>Using whole-exome sequencing to identify inherited causes of autism.</strong>
|
|
Neuron 77: 259-273, 2013.
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[PubMed: 23352163]
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[Full Text: https://doi.org/10.1016/j.neuron.2012.11.002]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 06/06/2014
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 5/17/2004
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</span>
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</div>
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</div>
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<div>
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<br />
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Edit History:
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alopez : 06/06/2014<br>carol : 4/1/2014<br>carol : 11/14/2013<br>mcolton : 11/13/2013<br>carol : 4/5/2012<br>carol : 1/21/2011<br>terry : 1/21/2011<br>alopez : 1/13/2011<br>ckniffin : 5/18/2004<br>carol : 5/17/2004<br>ckniffin : 5/17/2004
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