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<title>
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Entry
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- #609508 - STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
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- OMIM
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<span class="h4">#609508</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/609508"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS108300"> <strong>Phenotypic Series</strong> </a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR) OR (COL2A1)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18662&Typ=Pat" title="Autosomal dominant rhegmatogenous retinal detachment" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant rhegmat… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=824&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Stickler syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12061&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Stickler syndrome type 1 </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9359" 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=609508[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209867" title="Autosomal dominant rhegmatogenous retinal detachment" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant rhegmat…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Stickler syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Stickler syndrome type 1</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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<a id="title" class="mim-anchor"></a>
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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>SNOMEDCT:</strong> 773727009<br />
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<strong>ORPHA:</strong> 209867, 828, 90653<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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609508
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</span>
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</span>
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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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STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR<br />
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STICKLER SYNDROME, ATYPICAL
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</h4>
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED
|
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</span>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325">
|
|
12q13.11
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Stickler syndrome, type I, nonsyndromic ocular
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609508"> 609508 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
COL2A1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120140"> 120140 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/609508" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS108300" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609508" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609508" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Rhegmatogenous retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19620000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19620000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H33" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012230</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012230</a>]</span><br /> -
|
|
Lattice degeneration of the retina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3577000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3577000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.63</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154856&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154856</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007992</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
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|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- The systemic features typically seen in STL1 (<a href="/entry/108300">108300</a>)are not present<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the collagen, type II, alpha-1 gene (COL2A1, <a href="/entry/120140#0034">120140.0034</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Stickler syndrome
|
|
- <a href="/phenotypicSeries/PS108300">PS108300</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/487?start=-3&limit=10&highlight=487"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614284"> ?Stickler syndrome, type V </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/614284"> 614284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> COL9A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120260"> 120260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/848?start=-3&limit=10&highlight=848"> 1p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604841"> Stickler syndrome, type II </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/604841"> 604841 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120280"> COL11A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120280"> 120280 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/632?start=-3&limit=10&highlight=632"> 6q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614134"> Stickler syndrome, type IV </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/614134"> 614134 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120210"> COL9A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120210"> 120210 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/325?start=-3&limit=10&highlight=325"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108300"> Stickler syndrome, type I </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>
|
|
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<p>A number sign (#) is used with this entry because an atypical form of Stickler syndrome with predominantly ocular findings can be caused by mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>).</p>
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<p><strong><em>Stickler Syndrome, Type I, Predominantly Ocular</em></strong></p><p>
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Individuals with Stickler syndrome caused by mutations in the COL2A1 gene (Sticker syndrome type I, or STL1; <a href="/entry/108300">108300</a>) almost always display a congenital vitreous abnormality consisting of a vestigial gel in the retrolental space, bounded by a highly folded membrane. In a study of 50 families presenting with the Stickler syndrome type I membranous vitreous phenotype, <a href="#6" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> identified 3 families with a predominantly ocular form of type I Stickler syndrome in which 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene segregated with the respective phenotypes. The systemic features typically seen in STL1 of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities were either absent or very mild in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> described a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment without involvement of nonocular tissues. The findings were considered consistent with a diagnosis of Wagner syndrome (<a href="/entry/143200">143200</a>). <a href="#3" class="mim-tip-reference" title="Gupta, S. K., Leonard, B. C., Damji, K. F., Bulman, D. E. <strong>A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.</strong> Am. J. Ophthal. 133: 203-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812423</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01339-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812423">Gupta et al. (2002)</a> examined the large French-Canadian kindred originally described by <a href="#1" class="mim-tip-reference" title="Alexander, R. L., Shea, M. <strong>Wagner's disease.</strong> Arch. Ophthal. 74: 310-318, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14338642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14338642</a>] [<a href="https://doi.org/10.1001/archopht.1965.00970040312005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14338642">Alexander and Shea (1965)</a> as representing Wagner disease. <a href="#1" class="mim-tip-reference" title="Alexander, R. L., Shea, M. <strong>Wagner's disease.</strong> Arch. Ophthal. 74: 310-318, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14338642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14338642</a>] [<a href="https://doi.org/10.1001/archopht.1965.00970040312005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14338642">Alexander and Shea (1965)</a> noted epicanthus, broad sunken nasal bridge, receding chin, and genu valgum. <a href="#6" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> suggested that the disorder in these families was more likely to be a predominantly ocular form of Stickler syndrome type I. The families studied by <a href="#4" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> and <a href="#3" class="mim-tip-reference" title="Gupta, S. K., Leonard, B. C., Damji, K. F., Bulman, D. E. <strong>A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.</strong> Am. J. Ophthal. 133: 203-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812423</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01339-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11812423">Gupta et al. (2002)</a> carried mutations in the COL2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752401+11812423+8317498+14338642" 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>Wagner syndrome is often confused with Stickler syndrome. Like the predominantly ocular or ocular-only phenotype caused by certain mutations in COL2A1 (<a href="#6" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al., 2006</a>), Wagner syndrome has no systemic features. However, the vitreoretinal phenotype is different, as neither of the recognized vitreous abnormalities in Stickler syndrome are present in Wagner syndrome and there is a lower incidence of retinal detachment. In addition, patients with Wagner syndrome have poor dark adaptation which results in night blindness; this can be demonstrated by electrodiagnosis. Finally, Wagner syndrome has been shown to be due to mutations in the CSPG2 gene (<a href="/entry/118661">118661</a>) which encodes versican, a proteoglycan present in the vitreous body of the eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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><strong><em>Rhegmatogenous Retinal Detachment</em></strong></p><p>
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Rhegmatogenous retinal detachment (RRD), or retinal detachment caused by a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina, often is associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated (<a href="#2" class="mim-tip-reference" title="Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B. <strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong> Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939326</a>] [<a href="https://doi.org/10.1167/iovs.02-0736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12939326">Go et al., 2003</a>). Early diagnosis of RRD and recognition of patients at risk improve the prognosis. Nonsyndromic pathologic myopia (-6 diopters or less) in most cases occurs sporadically but is also encountered as an autosomal dominant or X-linked trait in families. RRD with autosomal dominant inheritance (DRRD) in association with myopia and vitreoretinal degeneration is usually described as a feature of Stickler syndrome (see <a href="/entry/108300">108300</a>) or erosive vitreoretinopathy (<a href="/entry/143200">143200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12939326" 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>RRD most frequently results from retinal tearing at the time of posterior vitreous detachment. Affected individuals in families with DRRD display neither of the vitreous phenotypes recognized in the Stickler syndromes and show no signs of skeletal dysplasia or deafness (<a href="#7" class="mim-tip-reference" title="Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P. <strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>] [<a href="https://doi.org/10.1167/iovs.04-1017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671297">Richards et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671297" 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><strong><em>Stickler Syndrome, Type I, Predominantly Ocular</em></strong></p><p>
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In 3 families with a predominantly ocular form of type I Stickler syndrome, <a href="#6" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> found 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene that segregated with the phenotype. The predominantly ocular form of type I Stickler syndrome was not confined, however, to mutations in exon 2; using splicing reporter constructs they demonstrated that a mutant GC donor splice site in intron 51 can be spliced normally, thus contributing to the predominantly ocular phenotype in the family in which it occurred (<a href="/entry/120140#0049">120140.0049</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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 3 unrelated patients with nonsyndromic ocular Stickler syndrome, <a href="#5" class="mim-tip-reference" title="McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M. <strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong> Hum. Mutat. 29: 83-90, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>] [<a href="https://doi.org/10.1002/humu.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721977">McAlinden et al. (2008)</a> identified 2 different heterozygous mutations in exon 2 of the COL2A1 gene (<a href="/entry/120140#0051">120140.0051</a>; <a href="/entry/120140#0052">120140.0052</a>). In vitro studies using a minigene construct indicated that the mutations resulted in a splicing pattern change and a decreased ratio of IIA:IIB COL2A1 mRNA. The findings suggested that the mutations were present in functional cis regulatory elements in exon 2 that are important in regulating the mechanism of alternative splicing of this exon. <a href="#5" class="mim-tip-reference" title="McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M. <strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong> Hum. Mutat. 29: 83-90, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>] [<a href="https://doi.org/10.1002/humu.20603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721977">McAlinden et al. (2008)</a> postulated that these mutations did not result in nonsense-mediated decay and haploinsufficiency, but rather an altered mRNA splice ratio with effects limited to the eye. Absence of an extraocular phenotype in Stickler syndrome patients with mutations in exon 2 of COL2A1 may be due to sufficient production of isoform IIB by nonsense-mediated altered splicing. Since isoform IIA is expressed in adult ocular vitreous, the ocular phenotype may be due to inadequate amounts of isoform IIA in the mature eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721977" 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><strong><em>Rhegmatogenous Retinal Detachment</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B. <strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong> Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939326</a>] [<a href="https://doi.org/10.1167/iovs.02-0736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12939326">Go et al. (2003)</a> investigated the clinical features and molecular causes of DRRD in 2 large families. They performed clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene, which is mutant in Stickler syndrome type 1, and the loci for Wagner disease/erosive vitreoretinopathy, high myopia mapping to chromosomes 18p11.31 (MYP2; <a href="/entry/160700">160700</a>) and 12q21-q23 (MYP3; <a href="/entry/603221">603221</a>), and nonsyndromic congenital retinal nonattachment (<a href="/entry/221900">221900</a>). Fifteen individuals from family A and 12 from family B showed RRD or retinal tears with minimal (family A) or no (family B) systemic characteristics of Stickler syndrome and no ocular features of Wagner disease or erosive vitreoretinopathy. RRD cosegregated fully with a chromosomal region harboring the COL2A1 gene with maximum lod scores of 6.09 (family A) and 4.97 (family B). In family B, an arg453-to-ter mutation in exon 30 of the COL2A1 gene (R453X; <a href="/entry/120140#0045">120140.0045</a>) was identified. In family A, DNA sequence analysis revealed no mutation in the coding region or at the splice sites of the COL2A1 gene. <a href="#2" class="mim-tip-reference" title="Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B. <strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong> Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939326</a>] [<a href="https://doi.org/10.1167/iovs.02-0736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12939326">Go et al. (2003)</a> remarked that it was surprising that family B harbored an R453X mutation, because all predominantly ocular Stickler syndrome cases reported to that time had been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12939326" 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="Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P. <strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>] [<a href="https://doi.org/10.1167/iovs.04-1017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671297">Richards et al. (2005)</a> described a family with DRRD showing no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome. Linkage analysis excluded the COL11A1 gene (<a href="/entry/120280">120280</a>) as the disease locus but could not exclude COL2A1. Mutation screening of COL2A1 identified a gly118-to-arg mutation in the COL2A1 gene (G118R; <a href="/entry/120140#0046">120140.0046</a>). Transfection of minigenes carrying mutations associated with DRRD into cultured cells detected no missplicing of mRNA from mutant constructs. <a href="#7" class="mim-tip-reference" title="Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P. <strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>] [<a href="https://doi.org/10.1167/iovs.04-1017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671297">Richards et al. (2005)</a> concluded that mutations outside the alternatively spliced exon 2 region of COL2A1 could also result in an ocular-only phenotype. The absence of evidence that missplicing modified the phenotype of these mutations suggested that the minimal or absent systemic features demonstrated by the G118R and L467F (<a href="/entry/120140#0034">120140.0034</a>) mutations were the result of the biophysical changes imparted on the collagen molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671297" 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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Alexander, R. L., Shea, M.
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<strong>Wagner's disease.</strong>
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Arch. Ophthal. 74: 310-318, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14338642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14338642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14338642" 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/10.1001/archopht.1965.00970040312005" target="_blank">Full Text</a>]
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Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B.
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<strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong>
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Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12939326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12939326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12939326" 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/10.1167/iovs.02-0736" target="_blank">Full Text</a>]
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Gupta, S. K., Leonard, B. C., Damji, K. F., Bulman, D. E.
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<strong>A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.</strong>
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Am. J. Ophthal. 133: 203-210, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11812423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11812423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11812423" 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/s0002-9394(01)01339-3" target="_blank">Full Text</a>]
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Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L.
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<strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong>
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Am. J. Hum. Genet. 53: 55-61, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8317498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong>
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Hum. Mutat. 29: 83-90, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong>
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Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong>
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Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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wwang : 3/19/2008<br>ckniffin : 3/4/2008<br>carol : 9/12/2007<br>alopez : 10/16/2006<br>alopez : 7/29/2005
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<strong>#</strong> 609508
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STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
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STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR<br />
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STICKLER SYNDROME, ATYPICAL
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Other entities represented in this entry:
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RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED
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<strong>SNOMEDCT:</strong> 773727009;
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<strong>ORPHA:</strong> 209867, 828, 90653;
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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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<span class="mim-font">
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12q13.11
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<span class="mim-font">
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Stickler syndrome, type I, nonsyndromic ocular
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<span class="mim-font">
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609508
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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COL2A1
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120140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because an atypical form of Stickler syndrome with predominantly ocular findings can be caused by mutation in the COL2A1 gene (120140).</p>
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<strong>Clinical Features</strong>
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<p><strong><em>Stickler Syndrome, Type I, Predominantly Ocular</em></strong></p><p>
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Individuals with Stickler syndrome caused by mutations in the COL2A1 gene (Sticker syndrome type I, or STL1; 108300) almost always display a congenital vitreous abnormality consisting of a vestigial gel in the retrolental space, bounded by a highly folded membrane. In a study of 50 families presenting with the Stickler syndrome type I membranous vitreous phenotype, Richards et al. (2006) identified 3 families with a predominantly ocular form of type I Stickler syndrome in which 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene segregated with the respective phenotypes. The systemic features typically seen in STL1 of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities were either absent or very mild in these patients. </p><p>Korkko et al. (1993) described a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment without involvement of nonocular tissues. The findings were considered consistent with a diagnosis of Wagner syndrome (143200). Gupta et al. (2002) examined the large French-Canadian kindred originally described by Alexander and Shea (1965) as representing Wagner disease. Alexander and Shea (1965) noted epicanthus, broad sunken nasal bridge, receding chin, and genu valgum. Richards et al. (2006) suggested that the disorder in these families was more likely to be a predominantly ocular form of Stickler syndrome type I. The families studied by Korkko et al. (1993) and Gupta et al. (2002) carried mutations in the COL2A1 gene. </p><p>Wagner syndrome is often confused with Stickler syndrome. Like the predominantly ocular or ocular-only phenotype caused by certain mutations in COL2A1 (Richards et al., 2006), Wagner syndrome has no systemic features. However, the vitreoretinal phenotype is different, as neither of the recognized vitreous abnormalities in Stickler syndrome are present in Wagner syndrome and there is a lower incidence of retinal detachment. In addition, patients with Wagner syndrome have poor dark adaptation which results in night blindness; this can be demonstrated by electrodiagnosis. Finally, Wagner syndrome has been shown to be due to mutations in the CSPG2 gene (118661) which encodes versican, a proteoglycan present in the vitreous body of the eye. </p><p><strong><em>Rhegmatogenous Retinal Detachment</em></strong></p><p>
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Rhegmatogenous retinal detachment (RRD), or retinal detachment caused by a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina, often is associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated (Go et al., 2003). Early diagnosis of RRD and recognition of patients at risk improve the prognosis. Nonsyndromic pathologic myopia (-6 diopters or less) in most cases occurs sporadically but is also encountered as an autosomal dominant or X-linked trait in families. RRD with autosomal dominant inheritance (DRRD) in association with myopia and vitreoretinal degeneration is usually described as a feature of Stickler syndrome (see 108300) or erosive vitreoretinopathy (143200). </p><p>RRD most frequently results from retinal tearing at the time of posterior vitreous detachment. Affected individuals in families with DRRD display neither of the vitreous phenotypes recognized in the Stickler syndromes and show no signs of skeletal dysplasia or deafness (Richards et al., 2005). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p><strong><em>Stickler Syndrome, Type I, Predominantly Ocular</em></strong></p><p>
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In 3 families with a predominantly ocular form of type I Stickler syndrome, Richards et al. (2006) found 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene that segregated with the phenotype. The predominantly ocular form of type I Stickler syndrome was not confined, however, to mutations in exon 2; using splicing reporter constructs they demonstrated that a mutant GC donor splice site in intron 51 can be spliced normally, thus contributing to the predominantly ocular phenotype in the family in which it occurred (120140.0049). </p><p>In 3 unrelated patients with nonsyndromic ocular Stickler syndrome, McAlinden et al. (2008) identified 2 different heterozygous mutations in exon 2 of the COL2A1 gene (120140.0051; 120140.0052). In vitro studies using a minigene construct indicated that the mutations resulted in a splicing pattern change and a decreased ratio of IIA:IIB COL2A1 mRNA. The findings suggested that the mutations were present in functional cis regulatory elements in exon 2 that are important in regulating the mechanism of alternative splicing of this exon. McAlinden et al. (2008) postulated that these mutations did not result in nonsense-mediated decay and haploinsufficiency, but rather an altered mRNA splice ratio with effects limited to the eye. Absence of an extraocular phenotype in Stickler syndrome patients with mutations in exon 2 of COL2A1 may be due to sufficient production of isoform IIB by nonsense-mediated altered splicing. Since isoform IIA is expressed in adult ocular vitreous, the ocular phenotype may be due to inadequate amounts of isoform IIA in the mature eye. </p><p><strong><em>Rhegmatogenous Retinal Detachment</em></strong></p><p>
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Go et al. (2003) investigated the clinical features and molecular causes of DRRD in 2 large families. They performed clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene, which is mutant in Stickler syndrome type 1, and the loci for Wagner disease/erosive vitreoretinopathy, high myopia mapping to chromosomes 18p11.31 (MYP2; 160700) and 12q21-q23 (MYP3; 603221), and nonsyndromic congenital retinal nonattachment (221900). Fifteen individuals from family A and 12 from family B showed RRD or retinal tears with minimal (family A) or no (family B) systemic characteristics of Stickler syndrome and no ocular features of Wagner disease or erosive vitreoretinopathy. RRD cosegregated fully with a chromosomal region harboring the COL2A1 gene with maximum lod scores of 6.09 (family A) and 4.97 (family B). In family B, an arg453-to-ter mutation in exon 30 of the COL2A1 gene (R453X; 120140.0045) was identified. In family A, DNA sequence analysis revealed no mutation in the coding region or at the splice sites of the COL2A1 gene. Go et al. (2003) remarked that it was surprising that family B harbored an R453X mutation, because all predominantly ocular Stickler syndrome cases reported to that time had been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing. </p><p>Richards et al. (2005) described a family with DRRD showing no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome. Linkage analysis excluded the COL11A1 gene (120280) as the disease locus but could not exclude COL2A1. Mutation screening of COL2A1 identified a gly118-to-arg mutation in the COL2A1 gene (G118R; 120140.0046). Transfection of minigenes carrying mutations associated with DRRD into cultured cells detected no missplicing of mRNA from mutant constructs. Richards et al. (2005) concluded that mutations outside the alternatively spliced exon 2 region of COL2A1 could also result in an ocular-only phenotype. The absence of evidence that missplicing modified the phenotype of these mutations suggested that the minimal or absent systemic features demonstrated by the G118R and L467F (120140.0034) mutations were the result of the biophysical changes imparted on the collagen molecule. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Alexander, R. L., Shea, M.
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<strong>Wagner's disease.</strong>
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Arch. Ophthal. 74: 310-318, 1965.
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[PubMed: 14338642]
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[Full Text: https://doi.org/10.1001/archopht.1965.00970040312005]
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<p class="mim-text-font">
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Go, S. L., Maugeri, A., Mulder, J. J. S., van Driel, M. A., Cremers, F. P. M., Hoyng, C. B.
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<strong>Autosomal dominant rhegmatogenous retinal detachment associated with an arg453ter mutation in the COL2A1 gene.</strong>
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Invest. Ophthal. Vis. Sci. 44: 4035-4043, 2003.
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[PubMed: 12939326]
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[Full Text: https://doi.org/10.1167/iovs.02-0736]
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Gupta, S. K., Leonard, B. C., Damji, K. F., Bulman, D. E.
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<strong>A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.</strong>
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Am. J. Ophthal. 133: 203-210, 2002.
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[PubMed: 11812423]
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[Full Text: https://doi.org/10.1016/s0002-9394(01)01339-3]
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<p class="mim-text-font">
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Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L.
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<strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong>
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Am. J. Hum. Genet. 53: 55-61, 1993.
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[PubMed: 8317498]
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<li>
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<p class="mim-text-font">
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McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., Ala-Kokko, L., Mannikko, M.
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<strong>Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.</strong>
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Hum. Mutat. 29: 83-90, 2008.
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[PubMed: 17721977]
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[Full Text: https://doi.org/10.1002/humu.20603]
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<li>
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<p class="mim-text-font">
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Richards, A. J., Laidlaw, M., Whittaker, J., Breacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P.
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<strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong>
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Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.
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[PubMed: 16752401]
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[Full Text: https://doi.org/10.1002/humu.20347]
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Richards, A. J., Meredith, S., Poulson, A., Bearcroft, P., Crossland, G., Baguley, D. M., Scott, J. D., Snead, M. P.
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<strong>A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.</strong>
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Invest. Ophthal. Vis. Sci. 46: 663-668, 2005.
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[PubMed: 15671297]
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[Full Text: https://doi.org/10.1167/iovs.04-1017]
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/4/2008
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly : 7/29/2005
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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terry : 08/22/2012<br>wwang : 3/19/2008<br>ckniffin : 3/4/2008<br>carol : 9/12/2007<br>alopez : 10/16/2006<br>alopez : 7/29/2005
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