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<title>
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Entry
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- #607688 - PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
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- OMIM
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<span class="h4">#607688</span>
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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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</li>
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<li role="presentation">
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<a href="/phenotypicSeries/PS168600"> <strong>Phenotypic Series</strong> </a>
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</li>
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(PARKINSON DISEASE 11, AUTOSOMAL DOMINANT) OR (GIGYF2)" class="mim-tip-hint" title="Clinical Trials" 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23022&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9080" 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=607688[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411602" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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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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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 411602<br />
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">ICD+</a>
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</div>
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<div>
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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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607688
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
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</span>
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</h3>
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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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<div>
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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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<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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<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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/1118?start=-3&limit=10&highlight=1118">
|
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2q37.1
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</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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{Parkinson disease 11}
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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/607688"> 607688 </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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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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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GIGYF2
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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/612003"> 612003 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS168600" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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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</div>
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<div class="btn-group">
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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/607688" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607688" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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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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<div>
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<p />
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Parkinson disease
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- <a href="/phenotypicSeries/PS168600">PS168600</a>
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- 34 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/115?start=-3&limit=10&highlight=115"> 1p36.23 </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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<a href="/entry/606324"> Parkinson disease 7, autosomal recessive early-onset </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="Autosomal recessive">AR</abbr>
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/606324"> 606324 </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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<a href="/entry/602533"> DJ1 </a>
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</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602533"> 602533 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
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<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606693"> Kufor-Rakeb syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<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>
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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/606693"> 606693 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/610513"> ATP13A2 </a>
|
|
</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/610513"> 610513 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/244?start=-3&limit=10&highlight=244"> 1p36.12 </a>
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|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605909"> Parkinson disease 6, early onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605909"> 605909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608309"> PINK1 </a>
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|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/608309"> 608309 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/1/601?start=-3&limit=10&highlight=601"> 1p32 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> {Parkinson disease 10} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> PARK10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19b, early-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19a, juvenile-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1217?start=-3&limit=10&highlight=1217"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> GBA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> 606463 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546"> 1q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> {Parkinson disease 16} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> PARK16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/314?start=-3&limit=10&highlight=314"> 2p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> {Parkinson disease 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> PARK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/389?start=-3&limit=10&highlight=389"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610297"> {Parkinson disease 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610297"> 610297 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> HTRA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> 606441 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1118?start=-3&limit=10&highlight=1118"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607688"> {Parkinson disease 11} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607688"> 607688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> GIGYF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> 612003 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/668?start=-3&limit=10&highlight=668"> 3q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> Parkinson disease 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> PARK21 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/917?start=-3&limit=10&highlight=917"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614251"> {Parkinson disease 18} </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614251"> 614251 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600495"> EIF4G1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600495"> 600495 </a>
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</span>
|
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
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|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613643"> {?Parkinson disease 5, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613643"> 613643 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> UCHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> 191342 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605543"> Parkinson disease 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605543"> 605543 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168601"> Parkinson disease 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168601"> 168601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/432?start=-3&limit=10&highlight=432"> 4q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> ADH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> 103730 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/929?start=-3&limit=10&highlight=929"> 6q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620923"> {Parkinson disease 26, autosomal dominant, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620923"> 620923 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> RAB32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> 612906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1011?start=-3&limit=10&highlight=1011"> 6q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600116"> Parkinson disease, juvenile, type 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600116"> 600116 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> PRKN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> 602544 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> TBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> 600075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/284?start=-3&limit=10&highlight=284"> 7p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616710"> Parkinson disease 22, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616710"> 616710 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> CHCHD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> 616244 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/565?start=-3&limit=10&highlight=565"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620482"> Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620482"> 620482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> PTPA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> 600756 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/283?start=-3&limit=10&highlight=283"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619491"> {Parkinson disease 24, autosomal dominant, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619491"> 619491 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> PSAP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> 176801 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/290?start=-3&limit=10&highlight=290"> 12q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607060"> {Parkinson disease 8} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607060"> 607060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609007"> LRRK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609007"> 609007 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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<a href="/entry/168600"> 168600 </a>
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<a href="/entry/601517"> ATXN2 </a>
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<span class="mim-font">
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<a href="/entry/601517"> 601517 </a>
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<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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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<a href="/entry/168600"> 168600 </a>
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<a href="/entry/603680"> ATXN8OS </a>
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<a href="/entry/603680"> 603680 </a>
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<span class="mim-font">
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<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
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<span class="mim-font">
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<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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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<a href="/entry/168600"> 168600 </a>
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<span class="mim-font">
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<a href="/entry/607047"> ATXN3 </a>
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<span class="mim-font">
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<a href="/entry/607047"> 607047 </a>
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<span class="mim-font">
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<a href="/geneMap/15/264?start=-3&limit=10&highlight=264"> 15q22.2 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/616840"> Parkinson disease 23, autosomal recessive, early onset </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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<a href="/entry/616840"> 616840 </a>
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<span class="mim-font">
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<a href="/entry/608879"> VPS13C </a>
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<span class="mim-font">
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<a href="/entry/608879"> 608879 </a>
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<span class="mim-font">
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<a href="/geneMap/16/404?start=-3&limit=10&highlight=404"> 16q11.2 </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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<a href="/entry/614203"> {Parkinson disease 17} </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="Autosomal dominant">AD</abbr>
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<td>
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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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<a href="/entry/614203"> 614203 </a>
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<span class="mim-font">
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<a href="/entry/601501"> VPS35 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/601501"> 601501 </a>
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<span class="mim-font">
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<a href="/geneMap/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </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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<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
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<td>
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<span class="mim-font">
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<a href="/entry/168600"> 168600 </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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<a href="/entry/157140"> MAPT </a>
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<td>
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<span class="mim-font">
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<a href="/entry/157140"> 157140 </a>
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<tr>
|
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<td>
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<span class="mim-font">
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<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </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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<a href="/entry/615530"> Parkinson disease 20, early-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/615530"> 615530 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/604297"> SYNJ1 </a>
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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/604297"> 604297 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/22/204?start=-3&limit=10&highlight=204"> 22q12.3 </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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<a href="/entry/260300"> Parkinson disease 15, autosomal recessive </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="Autosomal recessive">AR</abbr>
|
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/260300"> 260300 </a>
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<span class="mim-font">
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<a href="/entry/605648"> FBXO7 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/605648"> 605648 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </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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<a href="/entry/612953"> Parkinson disease 14, autosomal recessive </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="Autosomal recessive">AR</abbr>
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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="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/612953"> 612953 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/603604"> PLA2G6 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/603604"> 603604 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/445?start=-3&limit=10&highlight=445"> Xq21-q25 </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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<a href="/entry/300557"> {Parkinson disease 12} </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/300557"> 300557 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/300557"> PARK12 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/300557"> 300557 </a>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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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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<p>A number sign (#) is used with this entry because of evidence that susceptibility to Parkinson disease-11 (PARK11) is conferred by heterozygous mutation in the GIGYF2 gene (<a href="/entry/612003">612003</a>) on chromosome 2q37.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (<a href="/entry/168600">168600</a>).</p>
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Mapping</strong>
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<p><a href="#7" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. <strong>Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</strong> Am. J. Hum. Genet. 71: 124-135, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12058349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12058349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12058349[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/10.1086/341282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12058349">Pankratz et al. (2002)</a> reported linkage to 2q in a sample of sib pairs with Parkinson disease. <a href="#8" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. <strong>Significant linkage of Parkinson disease to chromosome 2q36-37.</strong> Am. J. Hum. Genet. 72: 1053-1057, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638082</a>] [<a href="https://doi.org/10.1086/374383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12638082">Pankratz et al. (2003)</a> expanded the sample to include 150 families meeting their strictest diagnostic definition of verified Parkinson disease. To delineate further the chromosome 2q linkage, they performed analyses using only those pedigrees with the strongest family history of PD. Linkage analyses in this subset of 65 pedigrees generated a lod score of 5.1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggested that variation in a gene on 2q36-q37 contributes to PD susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12638082+12058349" 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><a href="#7" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. <strong>Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</strong> Am. J. Hum. Genet. 71: 124-135, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12058349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12058349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12058349[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/10.1086/341282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12058349">Pankratz et al. (2002)</a> and <a href="#8" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. <strong>Significant linkage of Parkinson disease to chromosome 2q36-37.</strong> Am. J. Hum. Genet. 72: 1053-1057, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638082</a>] [<a href="https://doi.org/10.1086/374383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12638082">Pankratz et al. (2003)</a> showed that evidence for a chromosome 2q36-q37 PD susceptibility gene was primarily due to families with verified PD that had a strong family history of PD, defined as at least 4 affected family members or an affected sib pair with an affected parent. In their expanded sample of 362 families, <a href="#6" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Parkinson Study Group. <strong>Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.</strong> Hum. Molec. Genet. 12: 2599-2608, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925570</a>] [<a href="https://doi.org/10.1093/hmg/ddg270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925570">Pankratz et al. (2003)</a> identified 85 families meeting these criteria. A genome screen performed in these 85 families continued to provide strong evidence of linkage to chromosome 2q (lod = 4.9). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12925570+12638082+12058349" 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 45 European families with a strong family history of PD, <a href="#9" class="mim-tip-reference" title="Prestel, J., Sharma, M., Leitner, P., Zimprich, A., Vaughan, J. R., Durr, A., Bonifati, V., De Michele, G., Hanagasi, H. A., Farrer, M., Hofer, A., Asmus, F., Volpe, G., Meco, G., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., the European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). <strong>PARK11 is not linked with Parkinson's disease in European families.</strong> Europ. J. Hum. Genet. 13: 193-197, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523496</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15523496">Prestel et al. (2005)</a> did not obtain a significant lod score in the region of 2q36-q37 that had been demonstrated by <a href="#7" class="mim-tip-reference" title="Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. <strong>Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</strong> Am. J. Hum. Genet. 71: 124-135, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12058349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12058349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12058349[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/10.1086/341282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12058349">Pankratz et al. (2002)</a> in a North American population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15523496+12058349" 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><a href="#4" class="mim-tip-reference" title="Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G. <strong>High-resolution whole-genome association study of Parkinson disease.</strong> Am. J. Hum. Genet. 77: 685-693, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>] [<a href="https://doi.org/10.1086/496902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252231">Maraganore et al. (2005)</a> performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. One of the SNPs studied tagged the PARK11 late-onset PD susceptibility locus (p = 1.70 x 10(-5)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252231" 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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<p>In affected members of 12 unrelated Italian or French families with PD, <a href="#3" class="mim-tip-reference" title="Lautier, C., Goldwurm, S., Durr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., Smith, R. J. <strong>Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.</strong> Am. J. Hum. Genet. 82: 822-833, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18358451[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.ajhg.2008.01.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358451">Lautier et al. (2008)</a> identified 7 different heterozygous mutations in the GIGYF2 gene (see, e.g., <a href="/entry/612003#0001">612003.0001</a>-<a href="/entry/612003#0004">612003.0004</a>). Inheritance was autosomal dominant with evidence of incomplete penetrance. Clinical features were similar to that of idiopathic PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18358451" 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><a href="#1" class="mim-tip-reference" title="Bras, J., Simon-Sanchez, J., Federoff, M., Morgadinho, A., Januario, C., Ribeiro, M., Cunha, L., Oliveira, C., Singleton, A. B. <strong>Lack of replication of association between GIGYF2 variants and Parkinson disease.</strong> Hum. Molec. Genet. 18: 341-346, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18923002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18923002</a>] [<a href="https://doi.org/10.1093/hmg/ddn340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18923002">Bras et al. (2009)</a> sequenced the entire coding region of GIGYF2 in a series of 267 Portuguese and 460 North American PD samples. The authors found 3 previously published mutations, including N457T (<a href="/entry/612003#0002">612003.0002</a>), among neurologically normal control individuals. The authors suggested that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18923002" 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><a href="#5" class="mim-tip-reference" title="Nichols, W. C., Kissell, D. K., Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Clark, K. A., Halter, C. A., Rudolph, A., Wojcieszek, J., Pfeiffer, R. F., Foroud, T. <strong>Variation in GIGYF2 is not associated with Parkinson disease.</strong> Neurology 72: 1886-1892, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19279319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19279319</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19279319[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/10.1212/01.wnl.0000346517.98982.1b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19279319">Nichols et al. (2009)</a> did not identify 5 of the 7 GIGYF2 variants reported by <a href="#3" class="mim-tip-reference" title="Lautier, C., Goldwurm, S., Durr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., Smith, R. J. <strong>Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.</strong> Am. J. Hum. Genet. 82: 822-833, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18358451[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.ajhg.2008.01.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358451">Lautier et al. (2008)</a> among 96 probands with PD linked to chromosome 2q or in an extended sample of 566 multiplex PD families. One variant (N56S; <a href="/entry/612003#0001">612003.0001</a>) was found in 2 families and showed incomplete penetrance. Another variant (N457T; <a href="/entry/612003#0002">612003.0002</a>) was demonstrated not to segregate with the disorder in 1 family, raising doubts about its pathogenicity. <a href="#5" class="mim-tip-reference" title="Nichols, W. C., Kissell, D. K., Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Clark, K. A., Halter, C. A., Rudolph, A., Wojcieszek, J., Pfeiffer, R. F., Foroud, T. <strong>Variation in GIGYF2 is not associated with Parkinson disease.</strong> Neurology 72: 1886-1892, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19279319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19279319</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19279319[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/10.1212/01.wnl.0000346517.98982.1b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19279319">Nichols et al. (2009)</a> concluded that there was no consistent evidence that variation in the GIGYF2 gene contributes significantly to PD, and suggested that variation in another gene at this locus accounts for the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19279319+18358451" 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><a href="#11" class="mim-tip-reference" title="Zimprich, A., Schulte, C., Reinthaler, E., Haubenberger, D., Balzar, J., Lichtner, P., El Tawil, S., Edris, S., Foki, T., Pirker, W., Katzenschlager, R., Daniel, G. <strong>Brucke, T.; Auff, E.; Gasser, T. PARK11 gene (GIGYF2) variants asn56ser and asn457thr are not pathogenic for Parkinson's disease.</strong> Parkinsonism Relat. Disord. 15: 532-534, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19250854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19250854</a>] [<a href="https://doi.org/10.1016/j.parkreldis.2009.01.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19250854">Zimprich et al. (2009)</a> identified the N56S variant in 1 of 669 PD patients and in 1 of 1,051 control individuals. The patient with PD had an affected sister, who did not carry the N56S variant. In addition, the N457T variant was found in 1 patient of Egyptian origin and in 3 controls of European origin, but not in 50 Egyptian controls. The authors concluded that neither variant plays a major role in the pathogenesis of PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19250854" 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><a href="#10" class="mim-tip-reference" title="Tan, E.-K., Lin, C.-H., Tai, C.-H., Tan, L. C., Chen, M.-L., Li, R., Lim, H.-Q., Pavanni, R., Yuen, Y., Prakash, K. M., Zhao, Y., Wu, R.-M. <strong>Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.</strong> Hum. Genet. 126: 425-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449032</a>] [<a href="https://doi.org/10.1007/s00439-009-0678-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449032">Tan et al. (2009)</a> identified 4 different heterozygous mutations in the GIGYF2 gene (see, e.g., K421R; <a href="/entry/612003#0005">612003.0005</a>) in 7 (1.6%) of 450 patients with Parkinson disease from Taiwan and Singapore. The mutations were not identified in 400 controls. One patient had a positive family history, but the family was too small for segregation analysis. All patients had typical features of PD, with a mean age of onset ranging from 39 to 67 years. None of the mutations reported by <a href="#3" class="mim-tip-reference" title="Lautier, C., Goldwurm, S., Durr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., Smith, R. J. <strong>Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.</strong> Am. J. Hum. Genet. 82: 822-833, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18358451[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.ajhg.2008.01.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358451">Lautier et al. (2008)</a> were found. <a href="#10" class="mim-tip-reference" title="Tan, E.-K., Lin, C.-H., Tai, C.-H., Tan, L. C., Chen, M.-L., Li, R., Lim, H.-Q., Pavanni, R., Yuen, Y., Prakash, K. M., Zhao, Y., Wu, R.-M. <strong>Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.</strong> Hum. Genet. 126: 425-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449032</a>] [<a href="https://doi.org/10.1007/s00439-009-0678-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19449032">Tan et al. (2009)</a> emphasized that their results should be interpreted with caution, and that replication studies should be performed to establish conclusively if the variants are indeed pathogenic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18358451+19449032" 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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<p><a href="#2" class="mim-tip-reference" title="Giovannone, B., Tsiaras, W. G., de la Monte, S., Klysik, J., Lautier, C., Karashchuk, G., Goldwurm, S., Smith, R. J. <strong>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.</strong> Hum. Molec. Genet. 18: 4629-4639, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19744960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19744960</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19744960[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/10.1093/hmg/ddp430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19744960">Giovannone et al. (2009)</a> reported that Gigyf2 -/- mice underwent apparently normal embryonic development, but died within the first 2 postnatal days. Gigyf2 +/- mice survived to adulthood with no evident metabolic or growth defects. At 12-15 months of age, the Gigyf2 +/- mice began to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This was associated with histopathologic evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There were alpha-synuclein (SNCA; <a href="/entry/163890">163890</a>)-positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 -/- mice exhibited decreased IGF-I (IGF1; <a href="/entry/147440">147440</a>)-stimulated receptor tyrosine phosphorylation and augmented ERK1/2 (see <a href="/entry/601795">601795</a>) phosphorylation. <a href="#2" class="mim-tip-reference" title="Giovannone, B., Tsiaras, W. G., de la Monte, S., Klysik, J., Lautier, C., Karashchuk, G., Goldwurm, S., Smith, R. J. <strong>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.</strong> Hum. Molec. Genet. 18: 4629-4639, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19744960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19744960</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19744960[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/10.1093/hmg/ddp430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19744960">Giovannone et al. (2009)</a> proposed an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19744960" 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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<strong>REFERENCES</strong>
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<a id="Bras2009" class="mim-anchor"></a>
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Bras, J., Simon-Sanchez, J., Federoff, M., Morgadinho, A., Januario, C., Ribeiro, M., Cunha, L., Oliveira, C., Singleton, A. B.
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<strong>Lack of replication of association between GIGYF2 variants and Parkinson disease.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18923002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18923002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18923002" 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/10.1093/hmg/ddn340" target="_blank">Full Text</a>]
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<a id="Giovannone2009" class="mim-anchor"></a>
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Giovannone, B., Tsiaras, W. G., de la Monte, S., Klysik, J., Lautier, C., Karashchuk, G., Goldwurm, S., Smith, R. J.
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<strong>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.</strong>
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Hum. Molec. Genet. 18: 4629-4639, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19744960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19744960</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19744960[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=19744960" 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/10.1093/hmg/ddp430" target="_blank">Full Text</a>]
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<a id="Lautier2008" class="mim-anchor"></a>
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Lautier, C., Goldwurm, S., Durr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., Smith, R. J.
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<strong>Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.</strong>
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Am. J. Hum. Genet. 82: 822-833, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18358451[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=18358451" 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/j.ajhg.2008.01.015" target="_blank">Full Text</a>]
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Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G.
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<strong>High-resolution whole-genome association study of Parkinson disease.</strong>
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Am. J. Hum. Genet. 77: 685-693, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252231</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252231" 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/10.1086/496902" target="_blank">Full Text</a>]
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Nichols, W. C., Kissell, D. K., Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Clark, K. A., Halter, C. A., Rudolph, A., Wojcieszek, J., Pfeiffer, R. F., Foroud, T.
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<strong>Variation in GIGYF2 is not associated with Parkinson disease.</strong>
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Neurology 72: 1886-1892, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19279319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19279319</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19279319[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=19279319" 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/10.1212/01.wnl.0000346517.98982.1b" target="_blank">Full Text</a>]
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Parkinson Study Group.
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<strong>Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.</strong>
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Hum. Molec. Genet. 12: 2599-2608, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925570" 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/10.1093/hmg/ddg270" target="_blank">Full Text</a>]
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<a id="Pankratz2002" class="mim-anchor"></a>
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group.
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<strong>Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</strong>
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Am. J. Hum. Genet. 71: 124-135, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12058349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12058349</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12058349[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=12058349" 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/10.1086/341282" target="_blank">Full Text</a>]
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group.
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<strong>Significant linkage of Parkinson disease to chromosome 2q36-37.</strong>
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Am. J. Hum. Genet. 72: 1053-1057, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12638082" 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/10.1086/374383" target="_blank">Full Text</a>]
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<a id="Prestel2005" class="mim-anchor"></a>
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Prestel, J., Sharma, M., Leitner, P., Zimprich, A., Vaughan, J. R., Durr, A., Bonifati, V., De Michele, G., Hanagasi, H. A., Farrer, M., Hofer, A., Asmus, F., Volpe, G., Meco, G., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., the European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
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<strong>PARK11 is not linked with Parkinson's disease in European families.</strong>
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Europ. J. Hum. Genet. 13: 193-197, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15523496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15523496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15523496" 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.5201317" target="_blank">Full Text</a>]
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<a id="Tan2009" class="mim-anchor"></a>
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Tan, E.-K., Lin, C.-H., Tai, C.-H., Tan, L. C., Chen, M.-L., Li, R., Lim, H.-Q., Pavanni, R., Yuen, Y., Prakash, K. M., Zhao, Y., Wu, R.-M.
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<strong>Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.</strong>
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Hum. Genet. 126: 425-430, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449032" 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/10.1007/s00439-009-0678-x" target="_blank">Full Text</a>]
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<a id="Zimprich2009" class="mim-anchor"></a>
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Zimprich, A., Schulte, C., Reinthaler, E., Haubenberger, D., Balzar, J., Lichtner, P., El Tawil, S., Edris, S., Foki, T., Pirker, W., Katzenschlager, R., Daniel, G.
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<strong>Brucke, T.; Auff, E.; Gasser, T. PARK11 gene (GIGYF2) variants asn56ser and asn457thr are not pathogenic for Parkinson's disease.</strong>
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Parkinsonism Relat. Disord. 15: 532-534, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19250854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19250854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19250854" 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/j.parkreldis.2009.01.005" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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George E. Tiller - updated : 11/11/2010
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Cassandra L. Kniffin - updated : 5/21/2010<br>Cassandra L. Kniffin - updated : 9/25/2009<br>George E. Tiller - updated : 4/21/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 4/23/2008<br>Anne M. Stumpf - updated : 10/4/2005<br>Victor A. McKusick - updated : 4/11/2005
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Victor A. McKusick : 4/14/2003
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alopez : 04/21/2015
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carol : 12/17/2010<br>ckniffin : 11/16/2010<br>wwang : 11/11/2010<br>terry : 9/9/2010<br>wwang : 5/25/2010<br>ckniffin : 5/21/2010<br>alopez : 1/4/2010<br>wwang : 10/1/2009<br>ckniffin : 9/25/2009<br>alopez : 4/21/2009<br>alopez : 4/21/2009<br>carol : 9/30/2008<br>carol : 9/29/2008<br>carol : 9/29/2008<br>ckniffin : 9/29/2008<br>wwang : 5/1/2008<br>ckniffin : 4/23/2008<br>carol : 2/14/2006<br>alopez : 10/4/2005<br>wwang : 4/20/2005<br>terry : 4/11/2005<br>alopez : 3/17/2004<br>carol : 4/14/2003
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<strong>#</strong> 607688
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PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11
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<strong>ORPHA:</strong> 411602;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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2q37.1
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{Parkinson disease 11}
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607688
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3
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GIGYF2
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612003
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to Parkinson disease-11 (PARK11) is conferred by heterozygous mutation in the GIGYF2 gene (612003) on chromosome 2q37.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).</p>
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<strong>Mapping</strong>
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<p>Pankratz et al. (2002) reported linkage to 2q in a sample of sib pairs with Parkinson disease. Pankratz et al. (2003) expanded the sample to include 150 families meeting their strictest diagnostic definition of verified Parkinson disease. To delineate further the chromosome 2q linkage, they performed analyses using only those pedigrees with the strongest family history of PD. Linkage analyses in this subset of 65 pedigrees generated a lod score of 5.1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggested that variation in a gene on 2q36-q37 contributes to PD susceptibility. </p><p>Pankratz et al. (2002) and Pankratz et al. (2003) showed that evidence for a chromosome 2q36-q37 PD susceptibility gene was primarily due to families with verified PD that had a strong family history of PD, defined as at least 4 affected family members or an affected sib pair with an affected parent. In their expanded sample of 362 families, Pankratz et al. (2003) identified 85 families meeting these criteria. A genome screen performed in these 85 families continued to provide strong evidence of linkage to chromosome 2q (lod = 4.9). </p><p>In 45 European families with a strong family history of PD, Prestel et al. (2005) did not obtain a significant lod score in the region of 2q36-q37 that had been demonstrated by Pankratz et al. (2002) in a North American population. </p><p>Maraganore et al. (2005) performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. One of the SNPs studied tagged the PARK11 late-onset PD susceptibility locus (p = 1.70 x 10(-5)). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 12 unrelated Italian or French families with PD, Lautier et al. (2008) identified 7 different heterozygous mutations in the GIGYF2 gene (see, e.g., 612003.0001-612003.0004). Inheritance was autosomal dominant with evidence of incomplete penetrance. Clinical features were similar to that of idiopathic PD. </p><p>Bras et al. (2009) sequenced the entire coding region of GIGYF2 in a series of 267 Portuguese and 460 North American PD samples. The authors found 3 previously published mutations, including N457T (612003.0002), among neurologically normal control individuals. The authors suggested that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations. </p><p>Nichols et al. (2009) did not identify 5 of the 7 GIGYF2 variants reported by Lautier et al. (2008) among 96 probands with PD linked to chromosome 2q or in an extended sample of 566 multiplex PD families. One variant (N56S; 612003.0001) was found in 2 families and showed incomplete penetrance. Another variant (N457T; 612003.0002) was demonstrated not to segregate with the disorder in 1 family, raising doubts about its pathogenicity. Nichols et al. (2009) concluded that there was no consistent evidence that variation in the GIGYF2 gene contributes significantly to PD, and suggested that variation in another gene at this locus accounts for the disorder. </p><p>Zimprich et al. (2009) identified the N56S variant in 1 of 669 PD patients and in 1 of 1,051 control individuals. The patient with PD had an affected sister, who did not carry the N56S variant. In addition, the N457T variant was found in 1 patient of Egyptian origin and in 3 controls of European origin, but not in 50 Egyptian controls. The authors concluded that neither variant plays a major role in the pathogenesis of PD. </p><p>Tan et al. (2009) identified 4 different heterozygous mutations in the GIGYF2 gene (see, e.g., K421R; 612003.0005) in 7 (1.6%) of 450 patients with Parkinson disease from Taiwan and Singapore. The mutations were not identified in 400 controls. One patient had a positive family history, but the family was too small for segregation analysis. All patients had typical features of PD, with a mean age of onset ranging from 39 to 67 years. None of the mutations reported by Lautier et al. (2008) were found. Tan et al. (2009) emphasized that their results should be interpreted with caution, and that replication studies should be performed to establish conclusively if the variants are indeed pathogenic. </p>
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<h4>
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<strong>Animal Model</strong>
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<p>Giovannone et al. (2009) reported that Gigyf2 -/- mice underwent apparently normal embryonic development, but died within the first 2 postnatal days. Gigyf2 +/- mice survived to adulthood with no evident metabolic or growth defects. At 12-15 months of age, the Gigyf2 +/- mice began to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This was associated with histopathologic evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There were alpha-synuclein (SNCA; 163890)-positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 -/- mice exhibited decreased IGF-I (IGF1; 147440)-stimulated receptor tyrosine phosphorylation and augmented ERK1/2 (see 601795) phosphorylation. Giovannone et al. (2009) proposed an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling. </p>
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<strong>REFERENCES</strong>
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</span>
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Bras, J., Simon-Sanchez, J., Federoff, M., Morgadinho, A., Januario, C., Ribeiro, M., Cunha, L., Oliveira, C., Singleton, A. B.
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<strong>Lack of replication of association between GIGYF2 variants and Parkinson disease.</strong>
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Hum. Molec. Genet. 18: 341-346, 2009.
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[PubMed: 18923002]
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[Full Text: https://doi.org/10.1093/hmg/ddn340]
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Giovannone, B., Tsiaras, W. G., de la Monte, S., Klysik, J., Lautier, C., Karashchuk, G., Goldwurm, S., Smith, R. J.
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<strong>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.</strong>
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Hum. Molec. Genet. 18: 4629-4639, 2009.
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[PubMed: 19744960]
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[Full Text: https://doi.org/10.1093/hmg/ddp430]
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Lautier, C., Goldwurm, S., Durr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., Smith, R. J.
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<strong>Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.</strong>
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Am. J. Hum. Genet. 82: 822-833, 2008.
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[PubMed: 18358451]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.01.015]
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Maraganore, D. M., de Andrade, M., Lesnick, T. G., Strain, K. J., Farrer, M. J., Rocca, W. A., Pant, P. V. K., Frazer, K. A., Cox, D. R., Ballinger, D. G.
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<strong>High-resolution whole-genome association study of Parkinson disease.</strong>
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Am. J. Hum. Genet. 77: 685-693, 2005.
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[PubMed: 16252231]
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[Full Text: https://doi.org/10.1086/496902]
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Nichols, W. C., Kissell, D. K., Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Clark, K. A., Halter, C. A., Rudolph, A., Wojcieszek, J., Pfeiffer, R. F., Foroud, T.
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<strong>Variation in GIGYF2 is not associated with Parkinson disease.</strong>
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Neurology 72: 1886-1892, 2009.
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[PubMed: 19279319]
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[Full Text: https://doi.org/10.1212/01.wnl.0000346517.98982.1b]
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Parkinson Study Group.
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<strong>Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.</strong>
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Hum. Molec. Genet. 12: 2599-2608, 2003.
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[PubMed: 12925570]
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[Full Text: https://doi.org/10.1093/hmg/ddg270]
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group.
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<strong>Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.</strong>
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Am. J. Hum. Genet. 71: 124-135, 2002.
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[PubMed: 12058349]
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[Full Text: https://doi.org/10.1086/341282]
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<li>
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<p class="mim-text-font">
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Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group.
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<strong>Significant linkage of Parkinson disease to chromosome 2q36-37.</strong>
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Am. J. Hum. Genet. 72: 1053-1057, 2003.
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[PubMed: 12638082]
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[Full Text: https://doi.org/10.1086/374383]
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Prestel, J., Sharma, M., Leitner, P., Zimprich, A., Vaughan, J. R., Durr, A., Bonifati, V., De Michele, G., Hanagasi, H. A., Farrer, M., Hofer, A., Asmus, F., Volpe, G., Meco, G., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., the European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
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<strong>PARK11 is not linked with Parkinson's disease in European families.</strong>
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Europ. J. Hum. Genet. 13: 193-197, 2005.
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[PubMed: 15523496]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201317]
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Tan, E.-K., Lin, C.-H., Tai, C.-H., Tan, L. C., Chen, M.-L., Li, R., Lim, H.-Q., Pavanni, R., Yuen, Y., Prakash, K. M., Zhao, Y., Wu, R.-M.
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<strong>Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.</strong>
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Hum. Genet. 126: 425-430, 2009.
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[PubMed: 19449032]
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[Full Text: https://doi.org/10.1007/s00439-009-0678-x]
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Zimprich, A., Schulte, C., Reinthaler, E., Haubenberger, D., Balzar, J., Lichtner, P., El Tawil, S., Edris, S., Foki, T., Pirker, W., Katzenschlager, R., Daniel, G.
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<strong>Brucke, T.; Auff, E.; Gasser, T. PARK11 gene (GIGYF2) variants asn56ser and asn457thr are not pathogenic for Parkinson's disease.</strong>
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Parkinsonism Relat. Disord. 15: 532-534, 2009.
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[PubMed: 19250854]
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[Full Text: https://doi.org/10.1016/j.parkreldis.2009.01.005]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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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George E. Tiller - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 5/21/2010<br>Cassandra L. Kniffin - updated : 9/25/2009<br>George E. Tiller - updated : 4/21/2009<br>Cassandra L. Kniffin - updated : 9/29/2008<br>Cassandra L. Kniffin - updated : 4/23/2008<br>Anne M. Stumpf - updated : 10/4/2005<br>Victor A. McKusick - updated : 4/11/2005
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Victor A. McKusick : 4/14/2003
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alopez : 04/21/2015<br>carol : 12/17/2010<br>ckniffin : 11/16/2010<br>wwang : 11/11/2010<br>terry : 9/9/2010<br>wwang : 5/25/2010<br>ckniffin : 5/21/2010<br>alopez : 1/4/2010<br>wwang : 10/1/2009<br>ckniffin : 9/25/2009<br>alopez : 4/21/2009<br>alopez : 4/21/2009<br>carol : 9/30/2008<br>carol : 9/29/2008<br>carol : 9/29/2008<br>ckniffin : 9/29/2008<br>wwang : 5/1/2008<br>ckniffin : 4/23/2008<br>carol : 2/14/2006<br>alopez : 10/4/2005<br>wwang : 4/20/2005<br>terry : 4/11/2005<br>alopez : 3/17/2004<br>carol : 4/14/2003
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