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Entry
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- #231300 - GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
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- OMIM
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<p>
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<span class="h4">#231300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/231300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<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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</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=GLAUCOMA 3, PRIMARY CONGENITAL, A" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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=13993&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital glaucoma </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13994&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Juvenile glaucoma </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1135/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3070" 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://medlineplus.gov/genetics/condition/early-onset-glaucoma" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=231300[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=98976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital glaucoma</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Juvenile glaucoma</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:11211" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/231300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000411/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:231300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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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</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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<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> 204113001, 413728006<br />
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<strong>ICD10CM:</strong> Q15.0<br />
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<strong>ICD9CM:</strong> 743.2, 743.20<br />
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<strong>ORPHA:</strong> 98976, 98977<br />
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<strong>DO:</strong> 11211<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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231300
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GLAUCOMA, CONGENITAL; GLC3<br />
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BUPHTHALMOS
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</span>
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</h4>
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</div>
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<br />
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
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<span class="h4 mim-font">
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GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED
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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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</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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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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Phenotype <br /> mapping key
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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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/2/193?start=-3&limit=10&highlight=193">
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2p22.2
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</a>
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</td>
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<td>
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<span class="mim-font">
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Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
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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/231300"> 231300 </a>
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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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</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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</td>
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<td>
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<span class="mim-font">
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CYP1B1
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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/601771"> 601771 </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 class="btn-group ">
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<a href="/clinicalSynopsis/231300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</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/231300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/231300" 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 id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Buphthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204113001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204113001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413728006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413728006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q15.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020302</a>, <a href="https://bioportal.bioontology.org/search?q=C4551507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000557</a>]</span><br /> -
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Ocular globe large <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856440</a>]</span><br /> -
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Increased intraocular pressure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112222000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112222000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span><br /> -
|
|
Late onset congenital glaucoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856441</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008041</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008041" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008041</a>]</span><br /> -
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Early onset open-angle glaucoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856442</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, <a href="/entry/601771#0001">601771.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that this form of primary congenital glaucoma (PCG, or buphthalmos), designated primary congenital glaucoma 3A (GLC3A), is caused by homozygous or compound heterozygous mutation in the cytochrome P4501B1 gene (CYP1B1; <a href="/entry/601771">601771</a>) on chromosome 2p22.</p><p>Compound heterozygous or heterozygous mutations in the CYP1B1 gene can also cause juvenile- and adult-onset primary open angle glaucoma (POAG). For a general phenotypic description and a discussion of genetic heterogeneity of POAG, see <a href="/entry/137760">137760</a>.</p><p>Mutations in the myocilin gene (MYOC; <a href="/entry/601652">601652</a>) may also contribute to the phenotype via digenic inheritance.</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by <a href="#1" class="mim-tip-reference" title="Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others. <strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong> Europ. J. Hum. Genet. 19: 326-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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/10.1038/ejhg.2010.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21081970">Azmanov et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21081970" 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>Genetic Heterogeneity of Primary Congenital Glaucoma</em></strong></p><p>
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Primary congenital glaucoma-3B (GLC3B; <a href="/entry/600975">600975</a>) maps to chromosome 1p36.2-p36.1. GLC3C (<a href="/entry/613085">613085</a>) maps to chromosome 14q24.3. GLC3D (<a href="/entry/613086">613086</a>) is caused by mutation in the LTBP2 gene (<a href="/entry/602091">602091</a>) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E (<a href="/entry/617272">617272</a>) is caused by mutation in the TEK gene (<a href="/entry/600221">600221</a>) on chromosome 9p21.</p>
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<p>The ocular globe is usually large as a result of the increased intraocular pressure dating from intrauterine life, hence the term buphthalmos, meaning 'ox eye.' In only about half of cases are both eyes involved, and males are affected somewhat more often than females. The canal of Schlemm is present and communicates normally with the veins, as is proved by demonstrable filling of the canal with blood when the jugular veins are compressed. The defect is thought to involve the permeability of the trabeculum to aqueous humor.</p>
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<p>Distinguishing megalocornea (see MGC1, <a href="/entry/309300">309300</a>) from primary congenital glaucoma in infants is clinically challenging due to overlapping phenotypic features. <a href="#9" class="mim-tip-reference" title="Davidson, A. E., Cheong, S.-S., Hysi, P. G., Venturini, C., Plagnol, V., Ruddle, J. B., Ali, H., Carnt, N., Gardner, J. C., Hassan, H., Gade, E., Kearns, L., and 11 others. <strong>Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.</strong> PLoS One 9: e104163, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25093588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25093588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25093588[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/10.1371/journal.pone.0104163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25093588">Davidson et al. (2014)</a> examined 18 unrelated patients with megalocornea and mutations in the CHRDL1 gene (<a href="/entry/300350">300350</a>) and observed that patients with MGC1 have a large corneal diameter and thin cornea, but no corneal edema or breaks in the Descemet layer. The authors also stated that the depth of the anterior chamber in MGC1 is typically significantly greater than in patients with primary congenital glaucoma, and that ultrasonography could reliably distinguish between the 2 conditions: if the ratio of the anterior chamber depth to the total axial length is greater than 0.19 mm by ultrasound, then a diagnosis of MGC1 is extremely likely, unless there is coexisting gross axial myopia (greater than 36 mm). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25093588" 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>Because the trabeculum is abnormal in eyes with congenital glaucoma, intraocular pressure-lowering medications are ineffective in lowering intraocular pressure and preserving sight. Thus, the primary mode of therapy is surgical. <a href="#21" class="mim-tip-reference" title="Law, S. K., Bui, D., Caprioli, J. <strong>Serial axial length measurements in congenital glaucoma.</strong> Am. J. Ophthal. 132: 926-928, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11730663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11730663</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01183-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11730663">Law et al. (2001)</a> followed 12 eyes of 6 consecutive patients with congenital glaucoma using axial length ultrasonography. Eight of 12 initially had increased axial length (buphthalmos). After surgery, good intraocular pressure control was achieved in 10 eyes; 3 eyes showed decreased axial length and 7 eyes showed unchanged axial length. However, these eyes all returned to axial growth patterns that paralleled the normal ocular growth curve for age. In the 2 eyes with poorly controlled pressure postoperatively, axial growth pattern remained greater than normal. The authors concluded that axial length measurements were useful in monitoring the control of congenital glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11730663" 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>Autosomal recessive inheritance is quite certain in a significant proportion of glaucoma cases. <a href="#32" class="mim-tip-reference" title="Waardenburg, P. J. <strong>Ueber das familiaere Vorkommen und den Erbgang des praesenilen und senilen Glaukoms.</strong> Genetica 25: 79-125, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24538476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24538476</a>]" pmid="24538476">Waardenburg (1950)</a> suggested that recessive inheritance of some cases of glaucoma is proved by (1) a high frequency of parental consanguinity; (2) the presence of the disease in about 25% of sibs of probands; (3) the presence of the disease in all children of a marriage between 2 affected persons; and (4) the occurrence of glaucoma in collaterals of both parents in some families. <a href="#3" class="mim-tip-reference" title="Beiguelman, B., Prado, D. <strong>Recessive juvenile glaucoma.</strong> J. Genet. Hum. 12: 53-54, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14076427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14076427</a>]" pmid="14076427">Beiguelman and Prado (1963)</a> reported a Brazilian pedigree as convincing evidence for recessive inheritance of juvenile glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14076427+24538476" 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="Bonaiti, C., Demenais, F., Briard, M.-L., Feingold, J. <strong>Consanguinity in multifactorial inheritance: application to data on congenital glaucoma.</strong> Hum. Hered. 28: 361-371, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/680698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">680698</a>] [<a href="https://doi.org/10.1159/000152978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="680698">Bonaiti et al. (1978)</a> concluded that about 30% of congenital glaucoma cases in the series they analyzed were of an autosomal recessive type. In Bratislava, Czechoslovakia, <a href="#15" class="mim-tip-reference" title="Gencik, A., Gencikova, A., Gerinec, A. <strong>Genetic heterogeneity of congenital glaucoma.</strong> Clin. Genet. 17: 241-248, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7371217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7371217</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00142.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7371217">Gencik et al. (1980)</a> studied 45 gypsy families with 118 persons with congenital glaucoma. Inheritance was autosomal recessive with complete penetrance. In addition, they studied 81 non-gypsy families with 87 affected persons. Among these, 26.6% were only unilaterally affected and onset was usually later and course milder. The population frequency was much lower and an excess of males (1.55:1) was noted. The authors concluded that multifactorial inheritance is likely in the latter group. The consanguinity rate was not increased. <a href="#11" class="mim-tip-reference" title="Demenais, F., Elston, R. C., Bonaiti, C., Briard, M. L., Kaplan, E. B., Namboodiri, K. K. <strong>Segregation analysis of congenital glaucoma: approach by two different models.</strong> Am. J. Hum. Genet. 33: 300-306, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211844</a>]" pmid="7211844">Demenais et al. (1981)</a> confirmed genetic heterogeneity of congenital glaucoma. An analysis by <a href="#24" class="mim-tip-reference" title="Morton, N. E. <strong>Heterogeneity in nonsyndromal congenital glaucoma. (Letter)</strong> Am. J. Med. Genet. 12: 97-102, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7091200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7091200</a>] [<a href="https://doi.org/10.1002/ajmg.1320120113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7091200">Morton (1982)</a> suggested that much etiologic heterogeneity exists in the category of congenital glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=680698+7211844+7371217+7091200" 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 large gypsy pedigree with 31 affected persons in 18 sibships was reported from Slovakia by <a href="#16" class="mim-tip-reference" title="Gencikova, A., Gencik, A. <strong>Congenital glaucoma in gypsies from Slovakia.</strong> Hum. Hered. 32: 270-273, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7129458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7129458</a>] [<a href="https://doi.org/10.1159/000153305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7129458">Gencikova and Gencik (1982)</a>. <a href="#14" class="mim-tip-reference" title="Ferak, V., Gencik, A., Gencikova, A. <strong>Population genetic aspects of primary congenital glaucoma. II. Fitness, parental consanguinity, founder effect.</strong> Hum. Genet. 61: 198-200, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173861</a>] [<a href="https://doi.org/10.1007/BF00296441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173861">Ferak et al. (1982)</a> published observations on the high frequency of congenital glaucoma in a relatively small gypsy subpopulation of Slovakia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7129458+7173861" 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>The syndrome of congenital glaucoma with mental retardation and decreased renal ammonium production (Lowe syndrome, <a href="/entry/309000">309000</a>) is an X-linked recessive disorder.</p>
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<p>Using a group of 17 families with primary congenital glaucoma and a combination of both candidate regional and general positional mapping strategies, <a href="#29" class="mim-tip-reference" title="Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S. <strong>Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.</strong> Genomics 30: 171-177, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586416</a>] [<a href="https://doi.org/10.1006/geno.1995.9888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8586416">Sarfarazi et al. (1995)</a> mapped the locus, designated GLC3, to 2p. Eleven families showed no recombination with 3 tightly-linked markers, D2S177, D2S1346, and D2S1348, with a combined haplotype lod score of 11.50. Haplotype and multipoint linkage analysis of 14 DNA markers from 2p indicated to the authors that the disease gene is located in the 2p21 region and is flanked by DNA markers D2S1788/D2S1325 and D2S1356. Inspection of haplotype and heterogeneity analysis confirmed that 6 families are not linked to the 2p21 region, thus providing the first proof of genetic heterogeneity for this phenotype. The authors therefore designated the locus on 2p21 GLC3A. Of 7 genes mapping to the 2p21 region, they excluded, on the basis of linkage position, CAD (<a href="/entry/114010">114010</a>), CALM2 (<a href="/entry/114182">114182</a>), and LHCGR (<a href="/entry/152790">152790</a>) as candidates for GLC3A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586416" 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="#27" class="mim-tip-reference" title="Plasilova, M., Ferakova, E., Kadasi, L., Polakova, H., Gerinec, A., Ott, J., Ferak, V. <strong>Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (gypsies) from Slovakia.</strong> Hum. Hered. 48: 30-33, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463798</a>] [<a href="https://doi.org/10.1159/000022778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463798">Plasilova et al. (1998)</a> performed linkage analysis on 7 Slovak gypsy (Rom) families with 18 members with congenital glaucoma and found linkage to the GLC3A locus at 2p21, without heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463798" 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 large consanguineous Saudi families with primary congenital glaucoma, <a href="#4" class="mim-tip-reference" title="Bejjani, B. A., Lewis, R. A., Tomey, K. F., Anderson, K. L., Dueker, D. K., Jabak, M., Astle, W. F., Otterud, B., Leppert, M., Lupski, J. R. <strong>Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.</strong> Am. J. Hum. Genet. 62: 325-333, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463332</a>] [<a href="https://doi.org/10.1086/301725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463332">Bejjani et al. (1998)</a> found tight linkage to 2p21. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in this region and incomplete penetrance, but it showed no evidence of genetic heterogeneity. For these 25 families, the maximum combined 2-point lod score was 15.76 at a recombination fraction of 0.021, with a polymorphic marker D2S177. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463332" 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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<a href="#31" class="mim-tip-reference" title="Stoilov, I., Akarsu, A. N., Sarfarazi, M. <strong>Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.</strong> Hum. Molec. Genet. 6: 641-647, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097971</a>] [<a href="https://doi.org/10.1093/hmg/6.4.641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9097971">Stoilov et al. (1997)</a> used a combination of GLC3A-linked polymorphic markers (STRPs), YAC screening, and radiation hybrid mapping of published and newly generated data on STSs and ESTs to establish a critical region that harbors the defective gene in GLC3A. Of 5 potential candidate genes, 1 was placed outside the critical region and another 3 were screened for the presence of coding sequence changes. As a direct result of this screening, they identified 3 different truncating mutations in the human cytochrome P4501B1 gene (<a href="/entry/601771">601771</a>). A 13-bp deletion (<a href="/entry/601771#0001">601771.0001</a>) was detected in 1 consanguineous and 1 nonconsanguineous family; a single cytosine insertion (<a href="/entry/601771#0002">601771.0002</a>) was observed in another 2 consanguineous families; and a large deletion was found in an additional consanguineous family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097971" 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 25 Saudi families with primary congenital glaucoma mapping to chromosome 2p21, <a href="#4" class="mim-tip-reference" title="Bejjani, B. A., Lewis, R. A., Tomey, K. F., Anderson, K. L., Dueker, D. K., Jabak, M., Astle, W. F., Otterud, B., Leppert, M., Lupski, J. R. <strong>Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.</strong> Am. J. Hum. Genet. 62: 325-333, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463332</a>] [<a href="https://doi.org/10.1086/301725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9463332">Bejjani et al. (1998)</a> sequenced the coding exons of CYP1B1 and identified homozygosity or compound heterozygosity for 3 missense mutations (G61E, <a href="/entry/601771#0003">601771.0003</a>; R469W, <a href="/entry/601771#0006">601771.0006</a>; and D374N, <a href="/entry/601771#0007">601771.0007</a>) that segregated with the phenotype in 24 families. Additional clinical and molecular data on some mildly affected relatives showed variable expressivity of PCG in this population, suggesting that genetic and environmental events must modify the effects of CYP1B1 mutations in ocular development. A small number of PCG mutations identified in this Saudi population made both neonatal and population screening attractive public health measures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463332" 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>Following up on their report of 3 distinct CYP1B1 mutations in 24 Saudi families segregating PCG, <a href="#5" class="mim-tip-reference" title="Bejjani, B. A., Stockton, D. W., Lewis, R. A., Tomey, K. F., Dueker, D. K., Jabak, M., Astle, W. F., Lupski, J. R. <strong>Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.</strong> Hum. Molec. Genet. 9: 367-374, 2000. Note: Erratum: Hum. Molec. Genet. 9: 1141 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655546</a>] [<a href="https://doi.org/10.1093/hmg/9.3.367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655546">Bejjani et al. (2000)</a> analyzed 37 additional families and confirmed the initial finding of incomplete penetrance. Eight distinct mutations were identified; the most common Saudi mutations, G61E, R469W, and D374N, accounted for 72%, 12%, and 7%, respectively, of all the PCG chromosomes. Five additional homozygous mutations (2 deletions and 3 missense mutations) were detected, each in a single family. In 22 families, 40 apparently unaffected individuals had mutations and haplotypes identical to their affected sibs. Of these, 2 were subsequently diagnosed with glaucoma and 2 others had abnormal ocular findings consistent with milder forms of glaucoma. Analysis of these 22 kindreds suggested the presence of a dominant modifier locus that is not linked genetically to CYP1B1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655546" 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 Morocco, <a href="#6" class="mim-tip-reference" title="Belmouden, A., Melki, R., Hamdani, M., Zaghloul, K., Amraoui, A., Nadifi, S., Akhayat, O., Garchon, H.-J. <strong>A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.</strong> Clin. Genet. 62: 334-339, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12372064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12372064</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620415.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12372064">Belmouden et al. (2002)</a> studied 32 unrelated patients with primary congenital glaucoma and identified 2 mutations in the CYP1B1 gene in 11 (34%) patients: G61E (<a href="/entry/601771#0003">601771.0003</a>), previously found in Turkish and Algerian patients, and a 1-bp deletion (4339delG; <a href="/entry/601771#0011">601771.0011</a>). Seven patients were homozygous for 4339delG and 2 others for G61E, whereas the remaining 2 were compound heterozygotes. Close association of 4339delG with a rare allele of D2S177, a microsatellite marker located 270 kb upstream of CYP1B1, strongly suggested a founder effect for 4339delG, with the occurrence of the mutation tentatively estimated at between 900 and 1,700 years earlier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12372064" 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 a Spanish patient with primary congenital glaucoma, <a href="#22" class="mim-tip-reference" title="Lopez-Garrido, M.-P., Campos-Mollo, E., Harto, M. A., Escribano, J. <strong>Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.</strong> Clin. Genet. 76: 552-557, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19807744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19807744</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01242.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19807744">Lopez-Garrido et al. (2009)</a> identified homozygosity for a mutation (F261L; <a href="/entry/601771#0018">601771.0018</a>) in the CYP1B1 gene, which was carried in heterozygous state in her unaffected father but not her mother. Segregation analysis of markers on chromosome 2 was consistent with paternal uniparental isodisomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19807744" 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 37 Roma/Gypsy probands with PCG, <a href="#1" class="mim-tip-reference" title="Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others. <strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong> Europ. J. Hum. Genet. 19: 326-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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/10.1038/ejhg.2010.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21081970">Azmanov et al. (2011)</a> performed direct sequencing of the entire coding sequence of CYP1B1 as well as exon 4 of the LTBP2 gene (<a href="/entry/602091">602091</a>), harboring the R299X founder mutation (<a href="/entry/602091#0001">602091.0001</a>). In 25 (approximately 70%) of the 37 patients, they identified homozygosity or compound heterozygosity for 5 different mutations in CYP1B1, including 4 that had previously been reported as disease-causing in other populations (see, e.g., R368H, <a href="/entry/601771#0012">601771.0012</a> and E387K, <a href="/entry/601771#0014">601771.0014</a>) or for the R299X mutation in LTBP2. In 14 patients, no mutation was identified. Homozygosity for the R299X LTBP2 mutation resulted in a more severe clinical phenotype and poorer outcome despite a markedly higher number of surgical interventions. <a href="#1" class="mim-tip-reference" title="Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others. <strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong> Europ. J. Hum. Genet. 19: 326-333, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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/10.1038/ejhg.2010.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21081970">Azmanov et al. (2011)</a> stated that preliminary observations on patients with mutations in both CYP1B1 and LTBP2 suggested that the observed combinations were of no clinical significance and that digenic inheritance was unlikely. Genetic drift was suggested as the 'most plausible scenario' for the allelic heterogeneity seen in this Gypsy population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21081970" 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>Juvenile- and Adult-onset Primary Open Angle Glaucoma</em></strong></p><p>
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In 4 sisters from a Caucasian French family, <a href="#23" class="mim-tip-reference" title="Melki, R., Colomb, E., Lefort, N., Brezin, A. P., Garchon, H.-J. <strong>CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.</strong> J. Med. Genet. 41: 647-651, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342693</a>] [<a href="https://doi.org/10.1136/jmg.2004.020024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342693">Melki et al. (2004)</a> identified compound heterozygosity for mutations in the CYP1B1 gene: (G232R, <a href="/entry/601771#0013">601771.0013</a> and E387K, <a href="/entry/601771#0014">601771.0014</a>). Two of the sisters had primary congenital glaucoma, whereas the other 2 sisters had adult-onset (ages 35 and 40 years, respectively) primary open angle glaucoma (see <a href="/entry/137760">137760</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342693" 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 a French Caucasian family ascertained through a proband who developed juvenile-onset primary open angle glaucoma at the age of 13 years, <a href="#23" class="mim-tip-reference" title="Melki, R., Colomb, E., Lefort, N., Brezin, A. P., Garchon, H.-J. <strong>CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.</strong> J. Med. Genet. 41: 647-651, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342693</a>] [<a href="https://doi.org/10.1136/jmg.2004.020024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342693">Melki et al. (2004)</a> identified compound heterozygosity for mutations in the CYP1B1 gene in the proband and in his brother: a 1-bp deletion (3979delA; <a href="/entry/601771#0015">601771.0015</a>) and an asn423-to-tyr substitution (N423Y; <a href="/entry/601771#0016">601771.0016</a>). The proband's brother had primary congenital glaucoma. The mother carried the N423Y mutation but showed no glaucoma symptoms at the age of 49 years. The father could not be examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated French Caucasian patients with adult-onset primary open angle glaucoma, <a href="#23" class="mim-tip-reference" title="Melki, R., Colomb, E., Lefort, N., Brezin, A. P., Garchon, H.-J. <strong>CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.</strong> J. Med. Genet. 41: 647-651, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342693</a>] [<a href="https://doi.org/10.1136/jmg.2004.020024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342693">Melki et al. (2004)</a> identified a tyr81-to-asn substitution in the CYP1B1 gene (Y81N; <a href="/entry/601771#0017">601771.0017</a>). One of the 2 patients, diagnosed with glaucoma at the age of 52 years, had 2 sons heterozygous for the Y81N mutation who had onset of primary open angle glaucoma at 39 and 44 years of age, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342693" 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>Although PCG-associated CYP1B1 mutations in the heterozygous state had been evaluated for association with POAG in several small studies, their contribution to the occurrence of POAG was uncertain. <a href="#25" class="mim-tip-reference" title="Pasutto, F., Chavarria-Soley, G., Mardin, C. Y., Michels-Rautenstrauss, K., Ingelman-Sundberg, M., Fernandez-Martinez, L., Weber, B. H. F., Rautenstrauss, B., Reis, A. <strong>Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.</strong> Invest. Ophthal. Vis. Sci. 51: 249-254, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643970</a>] [<a href="https://doi.org/10.1167/iovs.09-3880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643970">Pasutto et al. (2010)</a> conducted a study to determine whether heterozygous functionally characterized CYP1B1 mutations were associated with the disease in a large cohort of German patients with POAG (<a href="#26" class="mim-tip-reference" title="Pasutto, F., Mardin, C. Y., Michels-Rautenstrauss, K., Weber, B. H. F., Sticht, H., Chavarria-Soley, G., Rautenstrauss, B., Kruse, F., Reis, A. <strong>Profiling of WDR36 missense variants in German patients with glaucoma.</strong> Invest. Ophthal. Vis. Sci. 49: 270-274, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18172102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18172102</a>] [<a href="https://doi.org/10.1167/iovs.07-0500" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18172102">Pasutto et al., 2008</a>). The entire coding region of CYP1B1 was directly sequenced in 399 glaucoma patients (270 with POAG, 47 with JOAG, and 82 with normal-tension glaucoma) and in 376 control subjects. All patients were screened for mutations in the myocilin (MYOC; <a href="/entry/601652">601652</a>), optineurin (OPTN; <a href="/entry/602432">602432</a>), and WD repeat domain 36 (WDR36; <a href="/entry/609669">609669</a>) genes. In vitro functional assays were performed and relative enzymatic activity of the CYP1B1 variants were determined to assess their possible causative role. Apart from known polymorphic variants, <a href="#25" class="mim-tip-reference" title="Pasutto, F., Chavarria-Soley, G., Mardin, C. Y., Michels-Rautenstrauss, K., Ingelman-Sundberg, M., Fernandez-Martinez, L., Weber, B. H. F., Rautenstrauss, B., Reis, A. <strong>Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.</strong> Invest. Ophthal. Vis. Sci. 51: 249-254, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643970</a>] [<a href="https://doi.org/10.1167/iovs.09-3880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643970">Pasutto et al. (2010)</a> identified 11 previously reported amino acid substitutions in CYP1B1 in both PCG and POAG cases. In vitro functional assays demonstrated marked reduction of enzymatic activity for variants P52L (<a href="/entry/601771#0019">601771.0019</a>) and R368H (<a href="/entry/601771#0012">601771.0012</a>), confirming their role as loss-of-function mutations. In contrast, 3 other variants showed no relevant effects and were thus classified as polymorphisms. Overall, 7 functionally impaired variants were present in 13 (3.6%) patients and in 1 (0.2%) control subject (P = 0.002). Reanalysis of previous studies reporting CYP1B1 mutations in patients with POAG based on updated functional validation showed a significant excess of carriers among patients compared to controls (P = 2.3 x 10(-7)). <a href="#25" class="mim-tip-reference" title="Pasutto, F., Chavarria-Soley, G., Mardin, C. Y., Michels-Rautenstrauss, K., Ingelman-Sundberg, M., Fernandez-Martinez, L., Weber, B. H. F., Rautenstrauss, B., Reis, A. <strong>Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.</strong> Invest. Ophthal. Vis. Sci. 51: 249-254, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643970</a>] [<a href="https://doi.org/10.1167/iovs.09-3880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643970">Pasutto et al. (2010)</a> concluded that heterozygous CYP1B1 mutations with absent or reduced relative enzymatic activity could be considered a risk factor for POAG. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18172102+19643970" 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>By Sanger sequencing, <a href="#17" class="mim-tip-reference" title="Gong, B., Qu, C., Li, X., Shi, Y., Lin, Y., Zhou, Y., Shuai, P., Yang, Y., Liu, X., Zhang, D., Yang, Z. <strong>Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.</strong> Brit. J. Ophthal. 99: 425-430, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25527694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25527694</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2014-306054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25527694">Gong et al. (2015)</a> screened for mutations in the CYP1B1 gene in 416 Han Chinese patients with POAG and 657 unrelated ethnically matched controls, and identified 13 heterozygous missense mutations in 25 patients. Nine of the mutations had previously been identified in patients with PCG and/or POAG; 3 of 9 were also found in controls. The 4 novel mutations occurred at highly conserved residues and were not found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25527694" 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>Digenic Inheritance</em></strong></p><p>
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In a patient with primary congenital glaucoma with onset before 4 months of age, <a href="#20" class="mim-tip-reference" title="Kaur, K., Reddy, A. B. M., Mukhopadhyay, A., Mandal, A. K., Hasnain, S. E., Ray, K., Thomas, R., Balasubramanian, D., Chakrabarti, S. <strong>Myocilin gene implicated in primary congenital glaucoma.</strong> Clin. Genet. 67: 335-340, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15733270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15733270</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00411.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15733270">Kaur et al. (2005)</a> identified 2 mutations: 1 in the CYP1B1 gene (<a href="/entry/601771#0012">601771.0012</a>) and 1 in the MYOC gene (<a href="/entry/601652#0014">601652.0014</a>). Each of the parents was heterozygous for 1 of the mutations. <a href="#20" class="mim-tip-reference" title="Kaur, K., Reddy, A. B. M., Mukhopadhyay, A., Mandal, A. K., Hasnain, S. E., Ray, K., Thomas, R., Balasubramanian, D., Chakrabarti, S. <strong>Myocilin gene implicated in primary congenital glaucoma.</strong> Clin. Genet. 67: 335-340, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15733270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15733270</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00411.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15733270">Kaur et al. (2005)</a> suggested a role for the MYOC gene in primary congenital glaucoma via digenic interactions with other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15733270" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the GPATCH3 gene and primary congenital glaucoma, see <a href="/entry/617486#0001">617486.0001</a>.</p><p>For discussion of a possible association between variation in the ANGPT1 gene and primary congenital glaucoma, see <a href="/entry/601667#0001">601667.0001</a>.</p>
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<p><a href="#8" class="mim-tip-reference" title="Chakrabarti, S., Kaur, K., Kaur, I., Mandal, A. K., Parikh, R. S., Thomas, R., Majumder, P. P. <strong>Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.</strong> Invest. Ophthal. Vis. Sci. 47: 43-47, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384942</a>] [<a href="https://doi.org/10.1167/iovs.05-0912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16384942">Chakrabarti et al. (2006)</a> found that common mutations in CYP1B1 that cause primary congenital glaucoma occur on a uniform haplotype background among Indian patients, which is distinct from the modal haplotype background found among unaffected control subjects. They cited reports of similar findings in other populations, demonstrating strong clustering of CYP1B1 mutations by geographic and haplotype backgrounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16384942" 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="#13" class="mim-tip-reference" title="Dimasi, D. P., Hewitt, A. W., Straga, T., Pater, J., MacKinnon, J. R., Elder, J. E., Casey, T., Mackey, D. A., Craig, J. E. <strong>Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.</strong> Clin. Genet. 72: 255-260, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17718864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17718864</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00864.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17718864">Dimasi et al. (2007)</a> identified 10 different CYP1B1 mutations in 8 (21.6%) of 37 predominantly Caucasian Australian probands with primary congenital glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17718864" 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>The Slovak Rom population is known to have an unusually high frequency of primary congenital glaucoma. <a href="#28" class="mim-tip-reference" title="Plasilova, M., Stoilov, I., Sarfarazi, M., Kadasi, L., Ferakova, E., Ferak, V. <strong>Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.</strong> J. Med. Genet. 36: 290-294, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10227395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10227395</a>]" pmid="10227395">Plasilova et al. (1999)</a> reported mutation screening of 43 patients from 26 Slovak Rom (Gypsy) families and identified the same mutation in the CYP1B1 gene in all families (E387K; <a href="/entry/601771#0008">601771.0008</a>). The E387K mutation appeared on a common haplotype in all patients, suggesting that it originated from a single ancestral mutational event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10227395" 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="#30" class="mim-tip-reference" title="Sivadorai, P., Cherninkova, S., Bouwer, S., Kamenarova, K., Angelicheva, D., Seeman, P., Hollingsworth, K., Mihaylova, V., Oscar, A., Dimitrova, G., Kaneva, R., Tournev, I., Kalaydjieva, L. <strong>Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.</strong> Clin. Genet. 74: 82-87, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18537981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18537981</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01024.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18537981">Sivadorai et al. (2008)</a> analyzed the CYP1B1 gene in 21 patients from 16 unrelated Bulgarian Gypsy families and detected 5 different mutations. The E387K mutation was detected in only 3 (8%) of 38 mutant alleles, and only 4 (0.56%) of 715 healthy Gypsy controls were heterozygous for the E387K mutation. <a href="#30" class="mim-tip-reference" title="Sivadorai, P., Cherninkova, S., Bouwer, S., Kamenarova, K., Angelicheva, D., Seeman, P., Hollingsworth, K., Mihaylova, V., Oscar, A., Dimitrova, G., Kaneva, R., Tournev, I., Kalaydjieva, L. <strong>Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.</strong> Clin. Genet. 74: 82-87, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18537981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18537981</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01024.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18537981">Sivadorai et al. (2008)</a> concluded that the molecular basis of primary congenital glaucoma in the Gypsy population is unresolved and that diagnostic analysis must extend beyond the E387K mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18537981" 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>Autosomal recessive glaucoma occurs in the rabbit (<a href="#19" class="mim-tip-reference" title="Hanna, B. L., Sawin, P. B., Sheppard, L. B. <strong>Recessive buphthalmos in the rabbit.</strong> Genetics 47: 519-529, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13904370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13904370</a>] [<a href="https://doi.org/10.1093/genetics/47.5.519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13904370">Hanna et al., 1962</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13904370" 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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<a href="#Barkan1958" class="mim-tip-reference" title="Barkan, O., Ferguson, W. J., Jr. <strong>Congenital glaucoma.</strong> Pediat. Clin. N. Am. Feb: 225-229, 1958.">Barkan and Ferguson (1958)</a>; <a href="#Demenais1979" class="mim-tip-reference" title="Demenais, F., Bonaiti, C., Briard, M.-L., Feingold, J., Frezal, J. <strong>Congenital glaucoma: genetic models.</strong> Hum. Genet. 46: 305-317, 1979.">Demenais et al. (1979)</a>; <a href="#Demenais1983" class="mim-tip-reference" title="Demenais, F. <strong>Further analysis of familial transmission of congenital glaucoma.</strong> Am. J. Hum. Genet. 35: 1156-1160, 1983.">Demenais (1983)</a>; <a href="#Graham1958" class="mim-tip-reference" title="Graham, M. V., Crick, R. P. <strong>Bilateral congenital buphthalmos in two sisters.</strong> Brit. J. Ophthal. 42: 370-371, 1958.">Graham and Crick (1958)</a>; <a href="#Westerlund1947" class="mim-tip-reference" title="Westerlund, E. <strong>Clinical and Genetic Studies on the Primary Glaucoma Diseases.</strong> Copenhagen: Nyt fordisk Forlag 1947. Pp. 11-207.">Westerlund (1947)</a>
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Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others.
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<strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong>
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Europ. J. Hum. Genet. 19: 326-333, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21081970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21081970</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21081970[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=21081970" 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/ejhg.2010.181" target="_blank">Full Text</a>]
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Barkan, O., Ferguson, W. J., Jr.
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<strong>Congenital glaucoma.</strong>
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Pediat. Clin. N. Am. Feb: 225-229, 1958.
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Beiguelman, B., Prado, D.
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<strong>Recessive juvenile glaucoma.</strong>
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J. Genet. Hum. 12: 53-54, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14076427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14076427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14076427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bejjani, B. A., Lewis, R. A., Tomey, K. F., Anderson, K. L., Dueker, D. K., Jabak, M., Astle, W. F., Otterud, B., Leppert, M., Lupski, J. R.
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<strong>Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.</strong>
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Am. J. Hum. Genet. 62: 325-333, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463332" 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/10.1086/301725" target="_blank">Full Text</a>]
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Bejjani, B. A., Stockton, D. W., Lewis, R. A., Tomey, K. F., Dueker, D. K., Jabak, M., Astle, W. F., Lupski, J. R.
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<strong>Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.</strong>
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Hum. Molec. Genet. 9: 367-374, 2000. Note: Erratum: Hum. Molec. Genet. 9: 1141 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655546" 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/9.3.367" target="_blank">Full Text</a>]
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Belmouden, A., Melki, R., Hamdani, M., Zaghloul, K., Amraoui, A., Nadifi, S., Akhayat, O., Garchon, H.-J.
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<strong>A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.</strong>
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Clin. Genet. 62: 334-339, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12372064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12372064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12372064" 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/10.1034/j.1399-0004.2002.620415.x" target="_blank">Full Text</a>]
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<a id="Bonaiti1978" class="mim-anchor"></a>
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Bonaiti, C., Demenais, F., Briard, M.-L., Feingold, J.
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<strong>Consanguinity in multifactorial inheritance: application to data on congenital glaucoma.</strong>
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Hum. Hered. 28: 361-371, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/680698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">680698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=680698" 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/10.1159/000152978" target="_blank">Full Text</a>]
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Chakrabarti, S., Kaur, K., Kaur, I., Mandal, A. K., Parikh, R. S., Thomas, R., Majumder, P. P.
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<strong>Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.</strong>
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Invest. Ophthal. Vis. Sci. 47: 43-47, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16384942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16384942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16384942" 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.05-0912" target="_blank">Full Text</a>]
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Davidson, A. E., Cheong, S.-S., Hysi, P. G., Venturini, C., Plagnol, V., Ruddle, J. B., Ali, H., Carnt, N., Gardner, J. C., Hassan, H., Gade, E., Kearns, L., and 11 others.
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<strong>Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.</strong>
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PLoS One 9: e104163, 2014. Note: Electronic Article.
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[<a href="https://doi.org/10.1371/journal.pone.0104163" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273314" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00864.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00296441" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000153305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01242.x" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Plasilova1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plasilova, M., Ferakova, E., Kadasi, L., Polakova, H., Gerinec, A., Ott, J., Ferak, V.
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<strong>Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (gypsies) from Slovakia.</strong>
|
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Hum. Hered. 48: 30-33, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463798" 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/10.1159/000022778" target="_blank">Full Text</a>]
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<a id="Plasilova1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plasilova, M., Stoilov, I., Sarfarazi, M., Kadasi, L., Ferakova, E., Ferak, V.
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<strong>Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.</strong>
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J. Med. Genet. 36: 290-294, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10227395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10227395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10227395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Sarfarazi1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sarfarazi, M., Akarsu, A. N., Hossain, A., Turacli, M. E., Aktan, S. G., Barsoum-Homsy, M., Chevrette, L., Sayli, B. S.
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<strong>Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity.</strong>
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Genomics 30: 171-177, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8586416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8586416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8586416" 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/10.1006/geno.1995.9888" target="_blank">Full Text</a>]
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<a id="Sivadorai2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sivadorai, P., Cherninkova, S., Bouwer, S., Kamenarova, K., Angelicheva, D., Seeman, P., Hollingsworth, K., Mihaylova, V., Oscar, A., Dimitrova, G., Kaneva, R., Tournev, I., Kalaydjieva, L.
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<strong>Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.</strong>
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Clin. Genet. 74: 82-87, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18537981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18537981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18537981" 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/10.1111/j.1399-0004.2008.01024.x" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Stoilov1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stoilov, I., Akarsu, A. N., Sarfarazi, M.
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<strong>Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.</strong>
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Hum. Molec. Genet. 6: 641-647, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9097971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9097971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9097971" 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/6.4.641" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="Waardenburg1950" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waardenburg, P. J.
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<strong>Ueber das familiaere Vorkommen und den Erbgang des praesenilen und senilen Glaukoms.</strong>
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Genetica 25: 79-125, 1950.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24538476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24538476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24538476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Westerlund1947" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Westerlund, E.
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<strong>Clinical and Genetic Studies on the Primary Glaucoma Diseases.</strong>
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Copenhagen: Nyt fordisk Forlag 1947. Pp. 11-207.
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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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Marla J. F. O'Neill - updated : 05/24/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/22/2016<br>Jane Kelly - updated : 6/11/2015<br>Marla J. F. O'Neill - updated : 9/5/2014<br>Jane Kelly - updated : 3/19/2012<br>Marla J. F. O'Neill - updated : 6/21/2011<br>Marla J. F. O'Neill - updated : 2/3/2011<br>Marla J. F. O'Neill - updated : 5/7/2009<br>Cassandra L. Kniffin - updated : 10/26/2007<br>Jane Kelly - updated : 9/12/2006<br>Cassandra L. Kniffin - updated : 4/18/2005<br>Jane Kelly - updated : 4/4/2002<br>Victor A. McKusick - updated : 3/31/1998<br>Victor A. McKusick - updated : 4/28/1997
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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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Victor A. McKusick : 6/3/1986
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alopez : 06/01/2021
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carol : 01/07/2021<br>carol : 05/24/2017<br>carol : 12/22/2016<br>carol : 05/05/2016<br>carol : 10/20/2015<br>carol : 6/11/2015<br>mcolton : 6/11/2015<br>carol : 6/11/2015<br>carol : 9/8/2014<br>mcolton : 9/5/2014<br>terry : 4/1/2013<br>alopez : 3/20/2012<br>alopez : 3/19/2012<br>carol : 1/20/2012<br>carol : 6/21/2011<br>carol : 6/21/2011<br>terry : 6/21/2011<br>carol : 6/21/2011<br>wwang : 4/11/2011<br>wwang : 2/25/2011<br>terry : 2/3/2011<br>wwang : 5/13/2009<br>terry : 5/7/2009<br>wwang : 11/6/2007<br>ckniffin : 10/26/2007<br>carol : 9/12/2006<br>carol : 8/2/2005<br>ckniffin : 4/18/2005<br>carol : 11/2/2004<br>mgross : 4/4/2002<br>carol : 2/12/2002<br>dkim : 12/11/1998<br>alopez : 3/31/1998<br>terry : 3/24/1998<br>alopez : 4/29/1997<br>alopez : 4/28/1997<br>terry : 4/22/1997<br>terry : 12/10/1996<br>mark : 9/6/1996<br>mark : 1/14/1996<br>mimadm : 2/19/1994<br>carol : 5/21/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<h3>
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<span class="mim-font">
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<strong>#</strong> 231300
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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GLAUCOMA, CONGENITAL; GLC3<br />
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BUPHTHALMOS
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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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<span class="h3 mim-font">
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GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
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<span class="h4 mim-font">
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GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED
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<strong>SNOMEDCT:</strong> 204113001, 413728006;
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<strong>ICD10CM:</strong> Q15.0;
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<strong>ICD9CM:</strong> 743.2, 743.20;
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<strong>ORPHA:</strong> 98976, 98977;
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<strong>DO:</strong> 11211;
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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 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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<span class="mim-font">
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2p22.2
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<td>
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<span class="mim-font">
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Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
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<td>
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<span class="mim-font">
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231300
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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CYP1B1
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</td>
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<td>
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<span class="mim-font">
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601771
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that this form of primary congenital glaucoma (PCG, or buphthalmos), designated primary congenital glaucoma 3A (GLC3A), is caused by homozygous or compound heterozygous mutation in the cytochrome P4501B1 gene (CYP1B1; 601771) on chromosome 2p22.</p><p>Compound heterozygous or heterozygous mutations in the CYP1B1 gene can also cause juvenile- and adult-onset primary open angle glaucoma (POAG). For a general phenotypic description and a discussion of genetic heterogeneity of POAG, see 137760.</p><p>Mutations in the myocilin gene (MYOC; 601652) may also contribute to the phenotype via digenic inheritance.</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). </p><p><strong><em>Genetic Heterogeneity of Primary Congenital Glaucoma</em></strong></p><p>
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Primary congenital glaucoma-3B (GLC3B; 600975) maps to chromosome 1p36.2-p36.1. GLC3C (613085) maps to chromosome 14q24.3. GLC3D (613086) is caused by mutation in the LTBP2 gene (602091) located on chromosome 14q24 but outside the locus for GLC3C. GLC3E (617272) is caused by mutation in the TEK gene (600221) on chromosome 9p21.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>The ocular globe is usually large as a result of the increased intraocular pressure dating from intrauterine life, hence the term buphthalmos, meaning 'ox eye.' In only about half of cases are both eyes involved, and males are affected somewhat more often than females. The canal of Schlemm is present and communicates normally with the veins, as is proved by demonstrable filling of the canal with blood when the jugular veins are compressed. The defect is thought to involve the permeability of the trabeculum to aqueous humor.</p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<p>Distinguishing megalocornea (see MGC1, 309300) from primary congenital glaucoma in infants is clinically challenging due to overlapping phenotypic features. Davidson et al. (2014) examined 18 unrelated patients with megalocornea and mutations in the CHRDL1 gene (300350) and observed that patients with MGC1 have a large corneal diameter and thin cornea, but no corneal edema or breaks in the Descemet layer. The authors also stated that the depth of the anterior chamber in MGC1 is typically significantly greater than in patients with primary congenital glaucoma, and that ultrasonography could reliably distinguish between the 2 conditions: if the ratio of the anterior chamber depth to the total axial length is greater than 0.19 mm by ultrasound, then a diagnosis of MGC1 is extremely likely, unless there is coexisting gross axial myopia (greater than 36 mm). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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<p>Because the trabeculum is abnormal in eyes with congenital glaucoma, intraocular pressure-lowering medications are ineffective in lowering intraocular pressure and preserving sight. Thus, the primary mode of therapy is surgical. Law et al. (2001) followed 12 eyes of 6 consecutive patients with congenital glaucoma using axial length ultrasonography. Eight of 12 initially had increased axial length (buphthalmos). After surgery, good intraocular pressure control was achieved in 10 eyes; 3 eyes showed decreased axial length and 7 eyes showed unchanged axial length. However, these eyes all returned to axial growth patterns that paralleled the normal ocular growth curve for age. In the 2 eyes with poorly controlled pressure postoperatively, axial growth pattern remained greater than normal. The authors concluded that axial length measurements were useful in monitoring the control of congenital glaucoma. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal recessive inheritance is quite certain in a significant proportion of glaucoma cases. Waardenburg (1950) suggested that recessive inheritance of some cases of glaucoma is proved by (1) a high frequency of parental consanguinity; (2) the presence of the disease in about 25% of sibs of probands; (3) the presence of the disease in all children of a marriage between 2 affected persons; and (4) the occurrence of glaucoma in collaterals of both parents in some families. Beiguelman and Prado (1963) reported a Brazilian pedigree as convincing evidence for recessive inheritance of juvenile glaucoma. </p><p>Bonaiti et al. (1978) concluded that about 30% of congenital glaucoma cases in the series they analyzed were of an autosomal recessive type. In Bratislava, Czechoslovakia, Gencik et al. (1980) studied 45 gypsy families with 118 persons with congenital glaucoma. Inheritance was autosomal recessive with complete penetrance. In addition, they studied 81 non-gypsy families with 87 affected persons. Among these, 26.6% were only unilaterally affected and onset was usually later and course milder. The population frequency was much lower and an excess of males (1.55:1) was noted. The authors concluded that multifactorial inheritance is likely in the latter group. The consanguinity rate was not increased. Demenais et al. (1981) confirmed genetic heterogeneity of congenital glaucoma. An analysis by Morton (1982) suggested that much etiologic heterogeneity exists in the category of congenital glaucoma. </p><p>A large gypsy pedigree with 31 affected persons in 18 sibships was reported from Slovakia by Gencikova and Gencik (1982). Ferak et al. (1982) published observations on the high frequency of congenital glaucoma in a relatively small gypsy subpopulation of Slovakia. </p><p>The syndrome of congenital glaucoma with mental retardation and decreased renal ammonium production (Lowe syndrome, 309000) is an X-linked recessive disorder.</p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Using a group of 17 families with primary congenital glaucoma and a combination of both candidate regional and general positional mapping strategies, Sarfarazi et al. (1995) mapped the locus, designated GLC3, to 2p. Eleven families showed no recombination with 3 tightly-linked markers, D2S177, D2S1346, and D2S1348, with a combined haplotype lod score of 11.50. Haplotype and multipoint linkage analysis of 14 DNA markers from 2p indicated to the authors that the disease gene is located in the 2p21 region and is flanked by DNA markers D2S1788/D2S1325 and D2S1356. Inspection of haplotype and heterogeneity analysis confirmed that 6 families are not linked to the 2p21 region, thus providing the first proof of genetic heterogeneity for this phenotype. The authors therefore designated the locus on 2p21 GLC3A. Of 7 genes mapping to the 2p21 region, they excluded, on the basis of linkage position, CAD (114010), CALM2 (114182), and LHCGR (152790) as candidates for GLC3A. </p><p>Plasilova et al. (1998) performed linkage analysis on 7 Slovak gypsy (Rom) families with 18 members with congenital glaucoma and found linkage to the GLC3A locus at 2p21, without heterogeneity. </p><p>In 3 large consanguineous Saudi families with primary congenital glaucoma, Bejjani et al. (1998) found tight linkage to 2p21. Formal linkage analysis in 25 Saudi PCG families confirmed both significant linkage to polymorphic markers in this region and incomplete penetrance, but it showed no evidence of genetic heterogeneity. For these 25 families, the maximum combined 2-point lod score was 15.76 at a recombination fraction of 0.021, with a polymorphic marker D2S177. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Primary Congenital Glaucoma 3A</em></strong></p><p>
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Stoilov et al. (1997) used a combination of GLC3A-linked polymorphic markers (STRPs), YAC screening, and radiation hybrid mapping of published and newly generated data on STSs and ESTs to establish a critical region that harbors the defective gene in GLC3A. Of 5 potential candidate genes, 1 was placed outside the critical region and another 3 were screened for the presence of coding sequence changes. As a direct result of this screening, they identified 3 different truncating mutations in the human cytochrome P4501B1 gene (601771). A 13-bp deletion (601771.0001) was detected in 1 consanguineous and 1 nonconsanguineous family; a single cytosine insertion (601771.0002) was observed in another 2 consanguineous families; and a large deletion was found in an additional consanguineous family. </p><p>In 25 Saudi families with primary congenital glaucoma mapping to chromosome 2p21, Bejjani et al. (1998) sequenced the coding exons of CYP1B1 and identified homozygosity or compound heterozygosity for 3 missense mutations (G61E, 601771.0003; R469W, 601771.0006; and D374N, 601771.0007) that segregated with the phenotype in 24 families. Additional clinical and molecular data on some mildly affected relatives showed variable expressivity of PCG in this population, suggesting that genetic and environmental events must modify the effects of CYP1B1 mutations in ocular development. A small number of PCG mutations identified in this Saudi population made both neonatal and population screening attractive public health measures. </p><p>Following up on their report of 3 distinct CYP1B1 mutations in 24 Saudi families segregating PCG, Bejjani et al. (2000) analyzed 37 additional families and confirmed the initial finding of incomplete penetrance. Eight distinct mutations were identified; the most common Saudi mutations, G61E, R469W, and D374N, accounted for 72%, 12%, and 7%, respectively, of all the PCG chromosomes. Five additional homozygous mutations (2 deletions and 3 missense mutations) were detected, each in a single family. In 22 families, 40 apparently unaffected individuals had mutations and haplotypes identical to their affected sibs. Of these, 2 were subsequently diagnosed with glaucoma and 2 others had abnormal ocular findings consistent with milder forms of glaucoma. Analysis of these 22 kindreds suggested the presence of a dominant modifier locus that is not linked genetically to CYP1B1. </p><p>In Morocco, Belmouden et al. (2002) studied 32 unrelated patients with primary congenital glaucoma and identified 2 mutations in the CYP1B1 gene in 11 (34%) patients: G61E (601771.0003), previously found in Turkish and Algerian patients, and a 1-bp deletion (4339delG; 601771.0011). Seven patients were homozygous for 4339delG and 2 others for G61E, whereas the remaining 2 were compound heterozygotes. Close association of 4339delG with a rare allele of D2S177, a microsatellite marker located 270 kb upstream of CYP1B1, strongly suggested a founder effect for 4339delG, with the occurrence of the mutation tentatively estimated at between 900 and 1,700 years earlier. </p><p>In a Spanish patient with primary congenital glaucoma, Lopez-Garrido et al. (2009) identified homozygosity for a mutation (F261L; 601771.0018) in the CYP1B1 gene, which was carried in heterozygous state in her unaffected father but not her mother. Segregation analysis of markers on chromosome 2 was consistent with paternal uniparental isodisomy. </p><p>In 37 Roma/Gypsy probands with PCG, Azmanov et al. (2011) performed direct sequencing of the entire coding sequence of CYP1B1 as well as exon 4 of the LTBP2 gene (602091), harboring the R299X founder mutation (602091.0001). In 25 (approximately 70%) of the 37 patients, they identified homozygosity or compound heterozygosity for 5 different mutations in CYP1B1, including 4 that had previously been reported as disease-causing in other populations (see, e.g., R368H, 601771.0012 and E387K, 601771.0014) or for the R299X mutation in LTBP2. In 14 patients, no mutation was identified. Homozygosity for the R299X LTBP2 mutation resulted in a more severe clinical phenotype and poorer outcome despite a markedly higher number of surgical interventions. Azmanov et al. (2011) stated that preliminary observations on patients with mutations in both CYP1B1 and LTBP2 suggested that the observed combinations were of no clinical significance and that digenic inheritance was unlikely. Genetic drift was suggested as the 'most plausible scenario' for the allelic heterogeneity seen in this Gypsy population. </p><p><strong><em>Juvenile- and Adult-onset Primary Open Angle Glaucoma</em></strong></p><p>
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In 4 sisters from a Caucasian French family, Melki et al. (2004) identified compound heterozygosity for mutations in the CYP1B1 gene: (G232R, 601771.0013 and E387K, 601771.0014). Two of the sisters had primary congenital glaucoma, whereas the other 2 sisters had adult-onset (ages 35 and 40 years, respectively) primary open angle glaucoma (see 137760). </p><p>In a French Caucasian family ascertained through a proband who developed juvenile-onset primary open angle glaucoma at the age of 13 years, Melki et al. (2004) identified compound heterozygosity for mutations in the CYP1B1 gene in the proband and in his brother: a 1-bp deletion (3979delA; 601771.0015) and an asn423-to-tyr substitution (N423Y; 601771.0016). The proband's brother had primary congenital glaucoma. The mother carried the N423Y mutation but showed no glaucoma symptoms at the age of 49 years. The father could not be examined. </p><p>In 2 unrelated French Caucasian patients with adult-onset primary open angle glaucoma, Melki et al. (2004) identified a tyr81-to-asn substitution in the CYP1B1 gene (Y81N; 601771.0017). One of the 2 patients, diagnosed with glaucoma at the age of 52 years, had 2 sons heterozygous for the Y81N mutation who had onset of primary open angle glaucoma at 39 and 44 years of age, respectively. </p><p>Although PCG-associated CYP1B1 mutations in the heterozygous state had been evaluated for association with POAG in several small studies, their contribution to the occurrence of POAG was uncertain. Pasutto et al. (2010) conducted a study to determine whether heterozygous functionally characterized CYP1B1 mutations were associated with the disease in a large cohort of German patients with POAG (Pasutto et al., 2008). The entire coding region of CYP1B1 was directly sequenced in 399 glaucoma patients (270 with POAG, 47 with JOAG, and 82 with normal-tension glaucoma) and in 376 control subjects. All patients were screened for mutations in the myocilin (MYOC; 601652), optineurin (OPTN; 602432), and WD repeat domain 36 (WDR36; 609669) genes. In vitro functional assays were performed and relative enzymatic activity of the CYP1B1 variants were determined to assess their possible causative role. Apart from known polymorphic variants, Pasutto et al. (2010) identified 11 previously reported amino acid substitutions in CYP1B1 in both PCG and POAG cases. In vitro functional assays demonstrated marked reduction of enzymatic activity for variants P52L (601771.0019) and R368H (601771.0012), confirming their role as loss-of-function mutations. In contrast, 3 other variants showed no relevant effects and were thus classified as polymorphisms. Overall, 7 functionally impaired variants were present in 13 (3.6%) patients and in 1 (0.2%) control subject (P = 0.002). Reanalysis of previous studies reporting CYP1B1 mutations in patients with POAG based on updated functional validation showed a significant excess of carriers among patients compared to controls (P = 2.3 x 10(-7)). Pasutto et al. (2010) concluded that heterozygous CYP1B1 mutations with absent or reduced relative enzymatic activity could be considered a risk factor for POAG. </p><p>By Sanger sequencing, Gong et al. (2015) screened for mutations in the CYP1B1 gene in 416 Han Chinese patients with POAG and 657 unrelated ethnically matched controls, and identified 13 heterozygous missense mutations in 25 patients. Nine of the mutations had previously been identified in patients with PCG and/or POAG; 3 of 9 were also found in controls. The 4 novel mutations occurred at highly conserved residues and were not found in controls. </p><p><strong><em>Digenic Inheritance</em></strong></p><p>
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In a patient with primary congenital glaucoma with onset before 4 months of age, Kaur et al. (2005) identified 2 mutations: 1 in the CYP1B1 gene (601771.0012) and 1 in the MYOC gene (601652.0014). Each of the parents was heterozygous for 1 of the mutations. Kaur et al. (2005) suggested a role for the MYOC gene in primary congenital glaucoma via digenic interactions with other genes. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the GPATCH3 gene and primary congenital glaucoma, see 617486.0001.</p><p>For discussion of a possible association between variation in the ANGPT1 gene and primary congenital glaucoma, see 601667.0001.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chakrabarti et al. (2006) found that common mutations in CYP1B1 that cause primary congenital glaucoma occur on a uniform haplotype background among Indian patients, which is distinct from the modal haplotype background found among unaffected control subjects. They cited reports of similar findings in other populations, demonstrating strong clustering of CYP1B1 mutations by geographic and haplotype backgrounds. </p><p>Dimasi et al. (2007) identified 10 different CYP1B1 mutations in 8 (21.6%) of 37 predominantly Caucasian Australian probands with primary congenital glaucoma. </p><p>The Slovak Rom population is known to have an unusually high frequency of primary congenital glaucoma. Plasilova et al. (1999) reported mutation screening of 43 patients from 26 Slovak Rom (Gypsy) families and identified the same mutation in the CYP1B1 gene in all families (E387K; 601771.0008). The E387K mutation appeared on a common haplotype in all patients, suggesting that it originated from a single ancestral mutational event. </p><p>Sivadorai et al. (2008) analyzed the CYP1B1 gene in 21 patients from 16 unrelated Bulgarian Gypsy families and detected 5 different mutations. The E387K mutation was detected in only 3 (8%) of 38 mutant alleles, and only 4 (0.56%) of 715 healthy Gypsy controls were heterozygous for the E387K mutation. Sivadorai et al. (2008) concluded that the molecular basis of primary congenital glaucoma in the Gypsy population is unresolved and that diagnostic analysis must extend beyond the E387K mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal recessive glaucoma occurs in the rabbit (Hanna et al., 1962). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Barkan and Ferguson (1958); Demenais et al. (1979); Demenais (1983);
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Graham and Crick (1958); Westerlund (1947)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Azmanov, D. N., Dimitrova, S., Florez, L., Cherninkova, S., Draganov, D., Morar, B., Saat, R., Juan, M., Arostegui, J. I., Ganguly, S., Soodyall, H., Chakrabarti, S., and 10 others.
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<strong>LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.</strong>
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Europ. J. Hum. Genet. 19: 326-333, 2011.
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[PubMed: 21081970]
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[Full Text: https://doi.org/10.1038/ejhg.2010.181]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barkan, O., Ferguson, W. J., Jr.
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<strong>Congenital glaucoma.</strong>
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Pediat. Clin. N. Am. Feb: 225-229, 1958.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Beiguelman, B., Prado, D.
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<strong>Recessive juvenile glaucoma.</strong>
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J. Genet. Hum. 12: 53-54, 1963.
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[PubMed: 14076427]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bejjani, B. A., Lewis, R. A., Tomey, K. F., Anderson, K. L., Dueker, D. K., Jabak, M., Astle, W. F., Otterud, B., Leppert, M., Lupski, J. R.
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<strong>Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.</strong>
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Am. J. Hum. Genet. 62: 325-333, 1998.
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[PubMed: 9463332]
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[Full Text: https://doi.org/10.1086/301725]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bejjani, B. A., Stockton, D. W., Lewis, R. A., Tomey, K. F., Dueker, D. K., Jabak, M., Astle, W. F., Lupski, J. R.
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<strong>Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.</strong>
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Hum. Molec. Genet. 9: 367-374, 2000. Note: Erratum: Hum. Molec. Genet. 9: 1141 only, 2000.
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[PubMed: 10655546]
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[Full Text: https://doi.org/10.1093/hmg/9.3.367]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Belmouden, A., Melki, R., Hamdani, M., Zaghloul, K., Amraoui, A., Nadifi, S., Akhayat, O., Garchon, H.-J.
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<strong>A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.</strong>
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Clin. Genet. 62: 334-339, 2002.
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[PubMed: 12372064]
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[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620415.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bonaiti, C., Demenais, F., Briard, M.-L., Feingold, J.
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<strong>Consanguinity in multifactorial inheritance: application to data on congenital glaucoma.</strong>
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Hum. Hered. 28: 361-371, 1978.
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[PubMed: 680698]
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[Full Text: https://doi.org/10.1159/000152978]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chakrabarti, S., Kaur, K., Kaur, I., Mandal, A. K., Parikh, R. S., Thomas, R., Majumder, P. P.
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<strong>Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.</strong>
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Invest. Ophthal. Vis. Sci. 47: 43-47, 2006.
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[PubMed: 16384942]
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[Full Text: https://doi.org/10.1167/iovs.05-0912]
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</li>
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<li>
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<p class="mim-text-font">
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Davidson, A. E., Cheong, S.-S., Hysi, P. G., Venturini, C., Plagnol, V., Ruddle, J. B., Ali, H., Carnt, N., Gardner, J. C., Hassan, H., Gade, E., Kearns, L., and 11 others.
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<strong>Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness.</strong>
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PLoS One 9: e104163, 2014. Note: Electronic Article.
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[PubMed: 25093588]
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[Full Text: https://doi.org/10.1371/journal.pone.0104163]
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Thank you in advance for your generous support, <br />
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