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Entry
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- #203200 - ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
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- OMIM
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<p>
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<span class="h4">#203200</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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<a href="/clinicalSynopsis/203200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS203100"> <strong>Phenotypic Series</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="#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="#history">History</a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(ALBINISM, OCULOCUTANEOUS, TYPE II) OR (OCA2 OR MC1R)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11458&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK590568/" 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/5317" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=203200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79432" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<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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</span>
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</div>
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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:0070096" 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/203200" 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/results?search_type=advanced&omia_id=001495,001544,002130,002709" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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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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</a>
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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:203200" 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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 11160000, 26336006<br />
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<strong>ICD10CM:</strong> E70.321<br />
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<strong>ORPHA:</strong> 79432<br />
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<strong>DO:</strong> 0070096<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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203200
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
|
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
OCULOCUTANEOUS ALBINISM, TYPE II<br />
|
|
OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE<br />
|
|
ALBINISM II
|
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</span>
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</h4>
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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="includedTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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BROWN OCULOCUTANEOUS ALBINISM, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/39?start=-3&limit=10&highlight=39">
|
|
15q12-q13.1
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Albinism, oculocutaneous, type II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203200"> 203200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
OCA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611409"> 611409 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/39?start=-3&limit=10&highlight=39">
|
|
15q12-q13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Albinism, brown oculocutaneous
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203200"> 203200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
OCA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611409"> 611409 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/757?start=-3&limit=10&highlight=757">
|
|
16q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Albinism, oculocutaneous, type II, modifier of}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203200"> 203200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MC1R
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/155555"> 155555 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/203200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS203100" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/203200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/203200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Decreased iris pigment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277862</a>]</span><br /> -
|
|
Translucent irides <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673941</a>]</span><br /> -
|
|
Irides blue-gray to light brown <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859948&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859948</a>]</span><br /> -
|
|
Decreased retinal pigmentation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95694000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95694000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007894</a>]</span><br /> -
|
|
Choroidal vessels visible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673945</a>]</span><br /> -
|
|
Foveal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007750</a>]</span><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
High refractive errors (hyperopia, myopia, with-the-rule astigmatism) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673947</a>]</span><br /> -
|
|
Misrouting of the optic nerves at the chiasm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673949</a>]</span><br /> -
|
|
Absent stereopsis due to anomalous decussation at the optic chiasm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673950</a>]</span><br /> -
|
|
Positive angle kappa (appearance of exotropia but no shift on cover test) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673951&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673951</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/827139005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">827139005</a>]</span><br /> -
|
|
Asymmetric visual evoked potentials <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673952</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
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|
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|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- White at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277863</a>]</span><br /> -
|
|
Tone does not appreciably change with age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277864</a>]</span><br /> -
|
|
Freckles in sun-exposed areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007603</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007603</a>]</span><br /> -
|
|
No tanning <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277865</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- White to golden blonde or red hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277866&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277866</a>]</span><br /> -
|
|
Hair darkens with age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277867</a>]</span><br /> -
|
|
'Yellow' hair occurs in individuals of African descent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277868</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hair bulbs will pigment when incubated with tyrosine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859949</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Highly variable phenotype with regard to pigmentation<br /> -
|
|
One of the 2 most common forms of OCA in the world along with OCA1<br /> -
|
|
High frequency in equatorial Africa<br /> -
|
|
Individuals may accumulate more pigment in hair and eyes with age<br /> -
|
|
Prevalence of 1 in 10,000 Caucasians<br /> -
|
|
Prevalence of 1 in 10,000 African-Americans<br /> -
|
|
Prevalence of 1 in 227 Hopi Indians<br /> -
|
|
Prevalence of 1 in 240 Zuni Indians<br /> -
|
|
Prevalence of 1 in 7,900 in Cameroon<br /> -
|
|
Prevalence of 1 in 3,900 in South Africa<br /> -
|
|
Prevalence of 1 in 1,429 in Tanzania<br /> -
|
|
Prevalence of 1 in 2,833 in Zimbabwe<br /> -
|
|
See also OCA1A (<a href="/entry/203100">203100</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the homolog of the mouse pink-eyed dilution gene (OCA2, <a href="/entry/611409#0001">611409.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Oculocutaneous albinism
|
|
- <a href="/phenotypicSeries/PS203100">PS203100</a>
|
|
- 12 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/443?start=-3&limit=10&highlight=443"> 4q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615312"> Albinism, oculocutaneous, type V </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615312"> 615312 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615312"> OCA5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615312"> 615312 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95"> 5p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606574"> Albinism, oculocutaneous, type IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606574"> 606574 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606202"> SLC45A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606202"> 606202 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/48?start=-3&limit=10&highlight=48"> 9p23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203290"> Albinism, oculocutaneous, type III </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203290"> 203290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115501"> TYRP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/115501"> 115501 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/321?start=-3&limit=10&highlight=321"> 10q22.2-q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615179"> Albinism, oculocutaneous, type VII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615179"> 615179 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614537"> LRMDA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614537"> 614537 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816"> 11q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203100"> Albinism, oculocutaneous, type IA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/203100"> 203100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606933"> TYR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606933"> 606933 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816"> 11q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606952"> Albinism, oculocutaneous, type IB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606952"> 606952 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606933"> TYR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606933"> 606933 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/262?start=-3&limit=10&highlight=262"> 13q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619165"> Oculocutaneous albinism, type VIII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619165"> 619165 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191275"> DCT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191275"> 191275 </a>
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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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<p>A number sign (#) is used with this entry because oculocutaneous albinism type II (OCA2) is caused by homozygous or compound heterozygous mutation in the OCA2 gene (<a href="/entry/611409">611409</a>) on chromosome 15q.</p><p>For a discussion of genetic heterogeneity of OCA, see OCA1A (<a href="/entry/203100">203100</a>).</p>
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<p>Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (<a href="#17" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al., 1994</a>; <a href="#12" class="mim-tip-reference" title="King, R. A., Hearing, V. J., Creel, D. J., Oetting, W. S. <strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5587-5627."None>King et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" 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>OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (<a href="#12" class="mim-tip-reference" title="King, R. A., Hearing, V. J., Creel, D. J., Oetting, W. S. <strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5587-5627."None>King et al., 2001</a>). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., <a href="#42" class="mim-tip-reference" title="Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B. <strong>Albinism. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): Metabolic Basis of Inherited Disease. (4th ed.)</strong> New York: McGraw-Hill (pub.) 1978. Pp. 282-316."None>Witkop et al., 1978</a> and <a href="#25" class="mim-tip-reference" title="O'Donnell, F. E., Jr., King, R. A., Green, W. R., Witkop, C. J., Jr. <strong>Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males.</strong> Arch. Ophthal. 96: 1621-1625, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/687204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">687204</a>] [<a href="https://doi.org/10.1001/archopht.1978.03910060255013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="687204">O'Donnell et al., 1978</a>) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (<a href="#17" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al., 1994</a>; <a href="#12" class="mim-tip-reference" title="King, R. A., Hearing, V. J., Creel, D. J., Oetting, W. S. <strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5587-5627."None>King et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=687204+8302318" 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>Trevor-Roper (<a href="#37" class="mim-tip-reference" title="Trevor-Roper, P. D. <strong>Marriage of two complete albinos with normally pigmented offspring.</strong> Brit. J. Ophthal. 36: 107-108, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14904868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14904868</a>] [<a href="https://doi.org/10.1136/bjo.36.2.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14904868">1952</a>, <a href="#38" class="mim-tip-reference" title="Trevor-Roper, P. D. <strong>Albinism.</strong> Proc. Roy. Soc. Med. 56: 21-24, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994109</a>]" pmid="13994109">1963</a>) reported 2 albino parents who had 4 normally pigmented children. Inheritance was most likely autosomal recessive. X-linked albinism could be excluded because the obligate heterozygous daughters of the father did not have mosaic pigmentary patterns in the ocular fundus. <a href="#38" class="mim-tip-reference" title="Trevor-Roper, P. D. <strong>Albinism.</strong> Proc. Roy. Soc. Med. 56: 21-24, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994109</a>]" pmid="13994109">Trevor-Roper (1963)</a> suggested that the parents had different forms of albinism. Applying the chemical method of <a href="#16" class="mim-tip-reference" title="Kugelman, T. P., Van Scott, E. J. <strong>Tyrosinase activity in melanocytes of human albinos.</strong> J. Invest. Derm. 37: 73-76, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13754937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13754937</a>]" pmid="13754937">Kugelman and Van Scott (1961)</a>, <a href="#44" class="mim-tip-reference" title="Witkop, C. J., Jr. <strong>Personal Communication.</strong> Minneapolis, Minn. 1966."None>Witkop (1966)</a> examined the family reported by Trevor-Roper (<a href="#37" class="mim-tip-reference" title="Trevor-Roper, P. D. <strong>Marriage of two complete albinos with normally pigmented offspring.</strong> Brit. J. Ophthal. 36: 107-108, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14904868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14904868</a>] [<a href="https://doi.org/10.1136/bjo.36.2.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14904868">1952</a>, <a href="#38" class="mim-tip-reference" title="Trevor-Roper, P. D. <strong>Albinism.</strong> Proc. Roy. Soc. Med. 56: 21-24, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994109</a>]" pmid="13994109">1963</a>) and found that whereas the mother did not show pigmentation in the Kugelman-Van Scott test, the father did show pigment. <a href="#44" class="mim-tip-reference" title="Witkop, C. J., Jr. <strong>Personal Communication.</strong> Minneapolis, Minn. 1966."None>Witkop (1966)</a> asserted that it is difficult to distinguish tyrosinase-positive from tyrosinase-negative albinism clinically, especially in Caucasians. Pigmented nevi in tyrosine-positive cases may be the only clue. In blacks with this form of albinism, the hair is yellow and many pigmented spots develop in the skin. In such cases, <a href="#44" class="mim-tip-reference" title="Witkop, C. J., Jr. <strong>Personal Communication.</strong> Minneapolis, Minn. 1966."None>Witkop (1966)</a> hypothesized a block in the formation of eumelanin with a continuing formation of pheomelanin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14904868+13994109+13754937" 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="#42" class="mim-tip-reference" title="Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B. <strong>Albinism. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): Metabolic Basis of Inherited Disease. (4th ed.)</strong> New York: McGraw-Hill (pub.) 1978. Pp. 282-316."None>Witkop et al. (1978)</a> referred to 4 families in which males and females were equally severely affected with a form of ocular albinism without apparent skin involvement. Affected females had ocular changes similar to those of hemizygous males with X-linked ocular albinism (OA1; <a href="/entry/300500">300500</a>). Some of the parents had diaphanous irides. None of the mothers had affected male relatives, and 2 of the families were Amish with consanguineous parents, suggesting autosomal recessive inheritance. The authors noted that ocular albinism had been reported in a female by <a href="#31" class="mim-tip-reference" title="Scialfa, A. C. <strong>Ocular albinism in a female.</strong> Am. J. Ophthal. 73: 943-948, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5032699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5032699</a>] [<a href="https://doi.org/10.1016/0002-9394(72)90464-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5032699">Scialfa (1972)</a>. <a href="#25" class="mim-tip-reference" title="O'Donnell, F. E., Jr., King, R. A., Green, W. R., Witkop, C. J., Jr. <strong>Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males.</strong> Arch. Ophthal. 96: 1621-1625, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/687204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">687204</a>] [<a href="https://doi.org/10.1001/archopht.1978.03910060255013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="687204">O'Donnell et al. (1978)</a> observed 7 females and 2 males from unrelated Caucasian kindreds with ocular albinism. Affected individuals showed impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hyperplasia of the fovea, and strabismus. Unlike the X-linked form of ocular albinism, females were as severely affected as males, obligatory heterozygotes lacked the mosaic pattern, and skin and hairbulbs did not show giant pigment granules. Autosomal recessive inheritance was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=687204+5032699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Castle, D., Kromberg, J., Kowalsky, R., Moosa, R., Gillman, N., Zwane, E., Fritz, V. <strong>Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.</strong> J. Med. Genet. 25: 835-837, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148727</a>] [<a href="https://doi.org/10.1136/jmg.25.12.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3148727">Castle et al. (1988)</a> could demonstrate no asymmetry on monocular testing of visual evoked potentials to suggest an abnormality of decussation in heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3148727" 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="#41" class="mim-tip-reference" title="Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B., King, R. A. <strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. Vol. II. (6th ed.)</strong> New York: McGraw-Hill (pub.) 1989. Pp. 2905-2947."None>Witkop et al. (1989)</a> stated that tyrosinase-positive albinism was the form present in the Hopi and Zuni Indians studied by <a href="#46" class="mim-tip-reference" title="Woolf, C. M. <strong>Albinism among Indians in Arizona and New Mexico.</strong> Am. J. Hum. Genet. 17: 23-35, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14255554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14255554</a>]" pmid="14255554">Woolf (1965)</a> and <a href="#45" class="mim-tip-reference" title="Woolf, C. M., Dukepoo, F. C. <strong>Hopi Indians, inbreeding and albinism.</strong> Science 164: 30-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5773710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5773710</a>] [<a href="https://doi.org/10.1126/science.164.3875.30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5773710">Woolf and Dukepoo (1969)</a>. This form was also found in the Brandywine triracial isolate (<a href="#40" class="mim-tip-reference" title="Witkop, C. J., Jr., Niswander, J. D., Bergsma, D. R., Workman, P. L., White, J. G. <strong>Tyrosinase-positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility.</strong> Am. J. Phys. Anthrop. 36: 397-405, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624656</a>] [<a href="https://doi.org/10.1002/ajpa.1330360311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4624656">Witkop et al., 1972</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14255554+4624656+5773710" 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 southern Africa, negroids with tyrosinase-positive ocular cutaneous albinism present with 2 distinctly different phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes were concordant within families. Among 111 albinos from southern Africa, <a href="#13" class="mim-tip-reference" title="Kromberg, J. G. R., Castle, D., Zwane, E. M., Jenkins, T. <strong>Albinism and skin cancer in southern Africa.</strong> Clin. Genet. 36: 43-52, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766562</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03365.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2766562">Kromberg et al. (1989)</a> found a correlation between the presence of ephelides and a lower risk of developing skin cancer, possibly as the result of the presence of some melanin pigment offering photoprotection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2766562" 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>Brown oculocutaneous albinism (BOCA) in humans is linked to the P locus, where mutations causing OCA2 are located. The occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic (<a href="#21" class="mim-tip-reference" title="Manga, P. <strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong> Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997."None>Manga, 1997</a>).</p><p>Using MRI, <a href="#30" class="mim-tip-reference" title="Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B. <strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong> Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12506050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12506050</a>] [<a href="https://doi.org/10.1167/iovs.02-0156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12506050">Schmitz et al. (2003)</a> found that the size and configuration of the optic chiasm in humans with albinism are distinctly different from the chiasms of normal control subjects. These chiasmal changes reflect the atypical crossing of the optic fibers, irrespective of the causative gene mutation. Eight patients had tyrosinase gene-related OCA1, 4 patients had P gene-related OCA2, and 1 had ocular albinism (OA1); the albinism-causing mutation had not been identified in 4 other patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12506050" 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>Clinical Variability</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Tsai, A. C.-H. <strong>Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. (Letter)</strong> Am. J. Med. Genet. 146A: 1493-1496, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18449927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18449927</a>] [<a href="https://doi.org/10.1002/ajmg.a.32321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18449927">Chiang et al. (2008)</a> noted that heterozygous carriers of the common 2.7-kb deletion in the OCA2 gene (<a href="/entry/611409#0001">611409.0001</a>) from sub-Saharan Africa are not hypopigmented. However, Caucasian individuals with Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) or Angelman syndrome (AS; <a href="/entry/105830">105830</a>), who are haploinsufficient for the OCA2 gene, often show hypopigmentation. The authors concluded that the phenotype of haploinsufficiency for the OCA2 gene depends upon the genetic pigmentary background of the individual. <a href="#3" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Tsai, A. C.-H. <strong>Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. (Letter)</strong> Am. J. Med. Genet. 146A: 1493-1496, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18449927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18449927</a>] [<a href="https://doi.org/10.1002/ajmg.a.32321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18449927">Chiang et al. (2008)</a> presented a Hispanic family in which the proband with OCA2 was compound heterozygous for the 2.7-kb deletion and another pathogenic mutation in the OCA2 gene. Family members carrying the heterozygous 2.7-kb deletion had mild skin hypopigmentation without ocular defects. The findings suggested that haploinsufficiency of the OCA2 gene can contribute to skin hypopigmentation that may be more obvious in Caucasian or Hispanic populations compared to Africans, who have color above the threshold of distinction. The report of <a href="#3" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Tsai, A. C.-H. <strong>Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. (Letter)</strong> Am. J. Med. Genet. 146A: 1493-1496, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18449927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18449927</a>] [<a href="https://doi.org/10.1002/ajmg.a.32321" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18449927">Chiang et al. (2008)</a> was in agreement with the findings of <a href="#35" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others. <strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong> Nature Genet. 39: 1443-1452, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952075</a>] [<a href="https://doi.org/10.1038/ng.2007.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952075">Sulem et al. (2007)</a>, who found a role for variations in the OCA2 gene in skin/hair/eye pigmentation (SHEP1; <a href="/entry/227220">227220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17952075+18449927" 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>The transmission pattern of OCA2 in the families reported by <a href="#5" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" 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>Studying Bantu subjects in South Africa, <a href="#27" class="mim-tip-reference" title="Ramsay, M., Colman, M.-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., Jenkins, T. <strong>The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.</strong> Am. J. Hum. Genet. 51: 879-884, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415228</a>]" pmid="1415228">Ramsay et al. (1992)</a> demonstrated linkage of the OCA2 locus to 2 DNA markers, D15S10 and D15S13, in the region 15q11.2-q12. Since the pink-eyed dilution locus, p, on mouse chromosome 7, maps to a region of homology of synteny with human 15q, <a href="#27" class="mim-tip-reference" title="Ramsay, M., Colman, M.-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., Jenkins, T. <strong>The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.</strong> Am. J. Hum. Genet. 51: 879-884, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415228</a>]" pmid="1415228">Ramsay et al. (1992)</a> postulated that the OCA2 and p loci are homologous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Kedda, M. A., Stevens, G., Manga, P., Viljoen, C., Jenkins, T., Ramsay, M. <strong>The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African negroids.</strong> Am. J. Hum. Genet. 54: 1078-1084, 1994. Note: Erratum: Am. J. Hum. Genet. 55: 602 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198130</a>]" pmid="8198130">Kedda et al. (1994)</a> analyzed for linkage with markers on 15q11-q13 in 41 southern African negroid families, each containing at least 1 affected tyrosinase-positive albino. Analysis showed no obligatory crossovers between the alleles at D15S12 and a tyrosinase-positive OCA, suggesting that the D15S12 locus is very close to or part of the disease locus, P. The affected persons in 13 of the families had ephelides; those in 23 families did not have ephelides; and those in 5 families were of unknown ephelis status, with 100% concordance with respect to ephelis status in all 36 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198130" 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="#20" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M. <strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong> Am. J. Hum. Genet. 68: 782-787, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179026">Manga et al. (2001)</a> showed by linkage analysis in 5 families that the BOCA phenotype maps to the same region as the OCA2 locus on 15q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11179026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a consanguineous kindred with OCA2, <a href="#5" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a> identified a homozygous 2.7-kb deletion encompassing an exon of the P gene (<a href="/entry/611409#0001">611409.0001</a>). The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" 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 4 unrelated patients with OCA2, <a href="#17" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified mutations in the OCA2 gene (see, e.g., <a href="/entry/611409#0002">611409.0002</a>-<a href="/entry/611409#0006">611409.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" 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="#18" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A. <strong>Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).</strong> Hum. Molec. Genet. 3: 2047-2051, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874125</a>]" pmid="7874125">Lee et al. (1994)</a> studied 7 unrelated African American patients with OCA2 and identified different abnormalities of the P gene in all 7. In addition to the single exon deletion found by <a href="#5" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a>, they observed 2 large deletions, 2 small in-frame deletions, and 6 different point mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920637+7874125" 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="#34" class="mim-tip-reference" title="Stevens, G., van Beukering, J., Jenkins, T., Ramsay, M. <strong>An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in Southern African Negroids.</strong> Am. J. Hum. Genet. 56: 586-591, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887411</a>]" pmid="7887411">Stevens et al. (1995)</a> also found that the 2.7-kb intragenic deletion first identified by <a href="#5" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a> is a frequent cause of OCA2 in South African negroids, being found in 114 of 146 (78%) of OCA2 chromosomes. A common haplotype was found in 43 of 55 (78%) OCA2 chromosomes studied, confirming the African origin of this allele. On the basis of haplotype data, it appeared that at least 7 additional, less-frequent OCA2 mutations had occurred in this population. <a href="#32" class="mim-tip-reference" title="Spritz, R. A., Fukai, K., Holmes, S. A., Luande, J. <strong>Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).</strong> Am. J. Hum. Genet. 56: 1320-1323, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7762554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7762554</a>]" pmid="7762554">Spritz et al. (1995)</a> found that the same 2.7-kb deletion allele accounted for most of the mutant P alleles in Tanzania. The 2.7-kb deletion includes exon 7 and results in a frameshift and premature termination of the predicted polypeptide product. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920637+7762554+7887411" 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 screening of filter blood spots from 470 newborn African Americans in Michigan, <a href="#6" class="mim-tip-reference" title="Durham-Pierre, D., King, R. A., Naber, J. M., Laken, S., Brilliant, M. H. <strong>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.</strong> Hum. Mutat. 7: 370-373, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723691</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723691">Durham-Pierre et al. (1996)</a> found that 2 were heterozygous for the 2.7-kb deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., Ramsay, M. <strong>Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.</strong> Hum. Mutat. 15: 166-172, 2000. Note: Erratum: Hum. Mutat. 16: following 86, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10649493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10649493</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10649493">Kerr et al. (2000)</a> screened the coding region of the P gene for mutations in the non-2.7-kb deletion alleles of OCA2 patients who did not carry the deletion allele in either 1 or both of their P genes. In a group of 39 unrelated black OCA2 patients with a total of 52 non-2.7-kb deletion OCA2 genes, they identified 4 mutations, including A334V (<a href="/entry/611409#0007">611409.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649493" 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="#21" class="mim-tip-reference" title="Manga, P. <strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong> Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997."None>Manga (1997)</a> found that a large proportion (9/10) of BOCA subjects are compound heterozygotes for the common 2.7-kb deletion and another pathogenic mutation in the OCA2 gene. Mutation analysis of the P gene in 10 unrelated individuals with BOCA in southern Africa revealed that 9 had 1 copy of the 2.7-kb deletion. <a href="#20" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M. <strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong> Am. J. Hum. Genet. 68: 782-787, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179026">Manga et al. (2001)</a> suggested that the second mutation in the subjects with BOCA may be a milder mutation, possibly in the promoter region (downregulating expression) or in other regions of the P gene they did not screen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11179026" 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="#28" class="mim-tip-reference" title="Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B. <strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong> Hum. Genet. 129: 199-208, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085994</a>] [<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21085994">Rooryck et al. (2011)</a> stated that rearrangements of the OCA2 gene may be present in about 20% of OCA2 patients, indicating that high-resolution array CGH analysis is important for adequate molecular diagnosis in candidate patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085994" 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 mother and 3 of her children with oculocutaneous or ocular albinism from a Czech family also segregating autosomal dominant retinal dystrophy with coloboma (see <a href="/entry/616722">616722</a>), <a href="#8" class="mim-tip-reference" title="Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P. <strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong> Clin. Genet. 104: 418-426, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37321975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37321975</a>] [<a href="https://doi.org/10.1111/cge.14391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37321975">Jedlickova et al. (2023)</a> identified biallelic mutations in the OCA2 gene: the mother and a daughter, who both had oculocutaneous albinism, were compound heterozygous for the previously reported V443I mutation (<a href="/entry/611409#0004">611409.0004</a>) and a large complex rearrangement in the OCA2 gene, whereas the 2 sons, who had ocular albinism, were homozygous for the V443I mutation. The authors noted that the brothers had normal visual acuity with discrete fundus hypopigmentation and foveal hypoplasia, which was only revealed due to the familial investigation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37321975" 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>Modifier Genes</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M. <strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong> Am. J. Med. Genet. 146A: 2427-2430, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18680187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18680187</a>] [<a href="https://doi.org/10.1002/ajmg.a.32453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18680187">Chiang et al. (2008)</a> reported a Hispanic girl with OCA2 caused by compound heterozygous mutations in the OCA2 gene. She had pale skin, blue irides, and visual defects, including horizontal nystagmus, irides that transilluminated light, absence of foveal reflexes, albinotic fundi, and decreased visual acuity. However, she also had curly reddish-blonde hair, which was unusual for OCA2. The unaffected mother was of Puerto Rican and Cuban descent, and the unaffected father was of Dominican and Ecuadorian descent. Each parent was heterozygous for an OCA2 mutation. Further genetic analysis identified a heterozygous mutation in the TYRP1 gene (S166X; <a href="/entry/115501#0002">115501.0002</a>) in the girl and her father. The father, who had haploinsufficiency at the OCA2 and TYRP1 loci together, did not have a noticeable phenotype. Variations in the MC1R gene (<a href="/entry/155555">155555</a>) associated with red hair (SHEP2; <a href="/entry/266300">266300</a>) were not identified. <a href="#2" class="mim-tip-reference" title="Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M. <strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong> Am. J. Med. Genet. 146A: 2427-2430, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18680187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18680187</a>] [<a href="https://doi.org/10.1002/ajmg.a.32453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18680187">Chiang et al. (2008)</a> concluded that haploinsufficiency of TYRP1 can modify the OCA2 phenotype, resulting in red hair in the absence of MC1R red alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18680187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#17" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> gave the overall frequency of OCA2 in the United States as approximately 1:36,000; however, the incidence is about 1:10,000 among African Americans and is said to have a prevalence of 1:1,100 in the Ibo of Nigeria (<a href="#26" class="mim-tip-reference" title="Okoro, A. N. <strong>Albinism in Nigeria: a clinical and social study.</strong> Brit. J. Derm. 92: 485-492, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1174464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1174464</a>]" pmid="1174464">Okoro, 1975</a>) and a rate of about 1:3,900 in negroids of South Africa (Kromberg and Jenkins (<a href="#14" class="mim-tip-reference" title="Kromberg, J. G. R., Jenkins, T. <strong>Prevalence of albinism in the South African Negro.</strong> S. Afr. Med. J. 61: 383-386, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7064008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7064008</a>]" pmid="7064008">1982</a>, <a href="#15" class="mim-tip-reference" title="Kromberg, J. G. R., Jenkins, T. <strong>Albinism in the South African Negro. III. Genetic counselling issues.</strong> J. Biosoc. Sci. 16: 99-108, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6699045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6699045</a>] [<a href="https://doi.org/10.1017/s0021932000014838" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6699045">1984</a>)) where it is the most common recessive genetic disorder of this group. Throughout sub-Saharan Africa, OCA2 is responsible for a great deal of morbidity, with skin cancer and gross visual impairment being important sequelae. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6699045+7064008+8302318+1174464" 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="#9" class="mim-tip-reference" title="Kagore, F., Lund, P. M. <strong>Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.</strong> J. Med. Genet. 32: 859-861, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592327</a>] [<a href="https://doi.org/10.1136/jmg.32.11.859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8592327">Kagore and Lund (1995)</a> found that the prevalence of OCA2 in school children in Harare, the capital city of Zimbabwe, was 1:2,833. On the basis of this prevalence, the gene frequency for OCA2 was estimated to be 0.0188, with a carrier frequency of 1:27. Most of the school children with albinism belonged to the majority Shoney ethnic group. As consanguineous marriages were discouraged in the Shoney culture, this high rate was probably the result of genetic drift in a relatively small population showing limited mobility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592327" 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="#33" class="mim-tip-reference" title="Stevens, G., Ramsay, M., Jenkins, T. <strong>Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.</strong> Hum. Genet. 99: 523-527, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099845</a>] [<a href="https://doi.org/10.1007/s004390050400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9099845">Stevens et al. (1997)</a> found the common 2.7-kb P gene deletion (<a href="/entry/611409#0001">611409.0001</a>) in 10 (1.3%) of 780 OCA2 chromosomes in a normally pigmented southern African population, and at a lower frequency in normally pigmented individuals from central Africa, 2 (0.2%) of 834 OCA2 chromosomes. Among OCA2-affected individuals, the deletion was found in 131 (77%) of 170 OCA2 chromosomes in southern Africa, 11 (79%) of 14 OCA2 chromosomes in Zambia, and 4 (33%) of 12 OCA2 chromosomes in the Central African Republic. The study confirmed the African origin of the deletion allele. Haplotype analysis suggested that the deletion mutation occurred only once and that it arose before the divergence of these African populations, which was estimated to be about 2,000 to 3,000 years ago. The unusually high frequency of OCA2 mutations, in particular the 2.7-kb deletion, suggested selection or genetic drift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099845" 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 high frequency of albinism has been found among several Native American populations, varying in frequency from 1:140 in the Jemez to 1:3,750 in the Navajo (<a href="#46" class="mim-tip-reference" title="Woolf, C. M. <strong>Albinism among Indians in Arizona and New Mexico.</strong> Am. J. Hum. Genet. 17: 23-35, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14255554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14255554</a>]" pmid="14255554">Woolf, 1965</a>; <a href="#45" class="mim-tip-reference" title="Woolf, C. M., Dukepoo, F. C. <strong>Hopi Indians, inbreeding and albinism.</strong> Science 164: 30-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5773710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5773710</a>] [<a href="https://doi.org/10.1126/science.164.3875.30" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5773710">Woolf and Dukepoo, 1969</a>). <a href="#47" class="mim-tip-reference" title="Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H. <strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong> Am. J. Hum. Genet. 72: 62-72, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12469324">Yi et al. (2003)</a> studied albinism among the Navajos, who live predominantly in northeastern Arizona. The phenotype of albinism in the Navajos overlaps those for OCA2 and for OCA4 (<a href="/entry/606574">606574</a>), which are caused by mutations in the P and MATP (SLC45A2; <a href="/entry/606202">606202</a>) genes, respectively. Consequently, <a href="#47" class="mim-tip-reference" title="Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H. <strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong> Am. J. Hum. Genet. 72: 62-72, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12469324">Yi et al. (2003)</a> did a mutation screen of these 2 genes. Although no mutations were found in the MATP gene, all Navajos with albinism were found to have a homozygous deletion of 122.5 kb of genomic DNA, including exons 10 through 20 of the P gene (<a href="/entry/611409#0008">611409.0008</a>). The deletion allele was not found in 34 other individuals with albinism who had other Native American origins, and had not been reported in any other ethnic group. The molecular characterization of the deletion allele allowed <a href="#47" class="mim-tip-reference" title="Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H. <strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong> Am. J. Hum. Genet. 72: 62-72, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12469324">Yi et al. (2003)</a> to design a 3-primer PCR system to estimate the carrier frequency in the Navajo population, an estimated 4.5%. The estimated prevalence of OCA2 in Navajos is between 1:1,500 and 1:2,000. They estimated that this mutation originated from a single founder 400 to 1,000 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12469324+14255554+5773710" 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="#36" class="mim-tip-reference" title="Suzuki, T., Miyamura, Y., Matsunaga, J., Shimizu, H., Kawachi, Y., Ohyama, N., Ishikawa, O., Ishikawa, T., Terao, H., Tomita, Y. <strong>Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.</strong> J. Invest. Derm. 120: 781-783, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12713581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12713581</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2003.12127.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12713581">Suzuki et al. (2003)</a> performed mutation analysis on 40 OCA1-negative Japanese albino patients and identified 6 different novel mutations in 6 unrelated patients. They estimated the frequency of OCA2 in the Japanese albino population to be 8%, indicating that OCA2 was not as common as OCA1. Thirty-four patients remained as unclassified OCA, supporting the idea that a third locus might be a major contributor to OCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12713581" 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="#28" class="mim-tip-reference" title="Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B. <strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong> Hum. Genet. 129: 199-208, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085994</a>] [<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21085994">Rooryck et al. (2011)</a> identified a 184-kb deletion in the OCA2 gene (<a href="/entry/611409#0015">611409.0015</a>) as a founder mutation in 3 unrelated patients of Polish ancestry with OCA2. Sequence analysis indicated that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining (NHEJ) as the molecular mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085994" 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 ocular albinism is known in rabbits (<a href="#19" class="mim-tip-reference" title="Magnussen, K. <strong>Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen.</strong> Z. Morph. Anthrop. 44: 127-135, 1952."None>Magnussen, 1952</a>).</p>
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<p>The male and his sister reported by <a href="#22" class="mim-tip-reference" title="McKusick, V. A. <strong>Medical genetics 1963.</strong> J. Chronic Dis. 17: 1077-1215, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14255733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14255733</a>] [<a href="https://doi.org/10.1016/0021-9681(64)90158-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14255733">McKusick (1964)</a> as having 'albinoidism' in fact had autosomal recessive ocular albinism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14255733" 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 study of 20 informative families, <a href="#7" class="mim-tip-reference" title="Heim, R. A., Dunn, D. S., Candy, S. E., Zwane, E., Kromberg, J. G. R., Jenkins, T. <strong>The tyrosine-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.</strong> Hum. Genet. 79: 89, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130302</a>] [<a href="https://doi.org/10.1007/BF00291719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3130302">Heim et al. (1988)</a> excluded linkage between the tyrosinase-positive oculocutaneous albinism locus and the beta-globin locus (HBB; <a href="/entry/141900">141900</a>); the maximum lod score was -9.85 at theta = 0.05. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130302" 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="#39" class="mim-tip-reference" title="Walpole, I. R., Mulcahy, M. T. <strong>Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22) balanced translocation.</strong> J. Med. Genet. 28: 482-484, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1910093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1910093</a>] [<a href="https://doi.org/10.1136/jmg.28.7.482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1910093">Walpole and Mulcahy (1991)</a> reported a family with a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). One child with the translocation also had tyrosinase-positive albinism. The authors postulated that the OCA2 gene resides at either 2q31.1 or 4q31.22 and was disrupted by the translocation, but did not lead to albinism until it was paired up with a mutant gene at that locus through mating of a translocation carrier with a carrier of the mutant gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1910093" 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="#29" class="mim-tip-reference" title="Rose, N. C., Menacker, S. J., Schnur, R. E., Jackson, L., McDonald-McGinn, D. M., Stump, T., Emanuel, B. S., Zackai, E. H. <strong>Ocular albinism in a male with del(6)(q13-q15): candidate region for autosomal recessive ocular albinism?</strong> Am. J. Med. Genet. 42: 700-705, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632442</a>] [<a href="https://doi.org/10.1002/ajmg.1320420515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632442">Rose et al. (1992)</a> reported ocular albinism in a male with deletion of the q13-q15 region of chromosome 6. The deletion was secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. The facial features were described as 'coarse,' with upslanting palpebral fissures, thin vermilion border of the upper lip, and elongated philtrum. <a href="#29" class="mim-tip-reference" title="Rose, N. C., Menacker, S. J., Schnur, R. E., Jackson, L., McDonald-McGinn, D. M., Stump, T., Emanuel, B. S., Zackai, E. H. <strong>Ocular albinism in a male with del(6)(q13-q15): candidate region for autosomal recessive ocular albinism?</strong> Am. J. Med. Genet. 42: 700-705, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632442</a>] [<a href="https://doi.org/10.1002/ajmg.1320420515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632442">Rose et al. (1992)</a> postulated that the ocular albinism was due to hemizygosity for a paternally derived gene located in the region 6q13-q15. The father, an African American, had dark brown skin, hair, and eyes, with normal visual acuity and no abnormal iris transillumination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632442" 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 linkage studies in negroid peoples of South Africa, <a href="#4" class="mim-tip-reference" title="Colman, M. A., Stevens, G., Ramsay, M., Kwon, B., Jenkins, T. <strong>Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.</strong> Hum. Genet. 90: 556-560, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8428754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8428754</a>] [<a href="https://doi.org/10.1007/BF00217458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8428754">Colman et al. (1993)</a> excluded the tyrosinase locus (<a href="/entry/606933">606933</a>) on chromosome 11 and the CAS2/TRP1 locus (<a href="/entry/115501">115501</a>) on chromosome 9 as the site of the mutation in tyrosinase-positive oculocutaneous albinism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8428754" 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="#Nance1970" class="mim-tip-reference" title="Nance, W. E., Jackson, C. E., Witkop, C. J., Jr. <strong>Amish albinism: a distinctive autosomal recessive phenotype.</strong> Am. J. Hum. Genet. 22: 579-586, 1970.">Nance et al. (1970)</a>; <a href="#Nance1971" class="mim-tip-reference" title="Nance, W. E., Witkop, C. J., Jr., Rawls, R. F. <strong>Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. The Clinical Delineation of Birth Defects. Eye. Vol. VIII.</strong> Baltimore: Williams and Wilkins (pub.) 1971. Pp. 125-128.">Nance et al. (1971)</a>; <a href="#Witkop1963">Witkop et al. (1963)</a>
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<strong>Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.</strong>
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J. Med. Genet. 25: 835-837, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3148727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.25.12.835" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Chiang2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M.
|
|
<strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 2427-2430, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18680187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18680187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18680187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.32453" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Chiang2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chiang, P.-W., Spector, E., Tsai, A. C.-H.
|
|
<strong>Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 1493-1496, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18449927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18449927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18449927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.32321" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Colman1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Colman, M. A., Stevens, G., Ramsay, M., Kwon, B., Jenkins, T.
|
|
<strong>Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.</strong>
|
|
Hum. Genet. 90: 556-560, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8428754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8428754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8428754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00217458" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Durham-Pierre1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H.
|
|
<strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong>
|
|
Nature Genet. 7: 176-179, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0694-176" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Durham-Pierre1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Durham-Pierre, D., King, R. A., Naber, J. M., Laken, S., Brilliant, M. H.
|
|
<strong>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.</strong>
|
|
Hum. Mutat. 7: 370-373, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Heim1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heim, R. A., Dunn, D. S., Candy, S. E., Zwane, E., Kromberg, J. G. R., Jenkins, T.
|
|
<strong>The tyrosine-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.</strong>
|
|
Hum. Genet. 79: 89, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3130302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00291719" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Jedlickova2023" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P.
|
|
<strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong>
|
|
Clin. Genet. 104: 418-426, 2023.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37321975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37321975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/cge.14391" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Kagore1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kagore, F., Lund, P. M.
|
|
<strong>Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.</strong>
|
|
J. Med. Genet. 32: 859-861, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.32.11.859" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Kedda1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kedda, M. A., Stevens, G., Manga, P., Viljoen, C., Jenkins, T., Ramsay, M.
|
|
<strong>The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African negroids.</strong>
|
|
Am. J. Hum. Genet. 54: 1078-1084, 1994. Note: Erratum: Am. J. Hum. Genet. 55: 602 only, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Kerr2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., Ramsay, M.
|
|
<strong>Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.</strong>
|
|
Hum. Mutat. 15: 166-172, 2000. Note: Erratum: Hum. Mutat. 16: following 86, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10649493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10649493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="King2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
King, R. A., Hearing, V. J., Creel, D. J., Oetting, W. S.
|
|
<strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 5587-5627.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Kromberg1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Castle, D., Zwane, E. M., Jenkins, T.
|
|
<strong>Albinism and skin cancer in southern Africa.</strong>
|
|
Clin. Genet. 36: 43-52, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2766562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03365.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Kromberg1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Jenkins, T.
|
|
<strong>Prevalence of albinism in the South African Negro.</strong>
|
|
S. Afr. Med. J. 61: 383-386, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7064008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7064008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7064008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Kromberg1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Jenkins, T.
|
|
<strong>Albinism in the South African Negro. III. Genetic counselling issues.</strong>
|
|
J. Biosoc. Sci. 16: 99-108, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6699045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6699045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6699045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1017/s0021932000014838" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Kugelman1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kugelman, T. P., Van Scott, E. J.
|
|
<strong>Tyrosinase activity in melanocytes of human albinos.</strong>
|
|
J. Invest. Derm. 37: 73-76, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13754937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13754937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13754937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Lee1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A.
|
|
<strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong>
|
|
New Eng. J. Med. 330: 529-534, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Lee1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A.
|
|
<strong>Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).</strong>
|
|
Hum. Molec. Genet. 3: 2047-2051, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Magnussen1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Magnussen, K.
|
|
<strong>Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen.</strong>
|
|
Z. Morph. Anthrop. 44: 127-135, 1952.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Manga2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M.
|
|
<strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong>
|
|
Am. J. Hum. Genet. 68: 782-787, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179026[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=11179026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/318800" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Manga1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Manga, P.
|
|
<strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong>
|
|
Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="McKusick1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Medical genetics 1963.</strong>
|
|
J. Chronic Dis. 17: 1077-1215, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14255733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14255733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14255733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9681(64)90158-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Nance1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nance, W. E., Jackson, C. E., Witkop, C. J., Jr.
|
|
<strong>Amish albinism: a distinctive autosomal recessive phenotype.</strong>
|
|
Am. J. Hum. Genet. 22: 579-586, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5516239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5516239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5516239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Nance1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nance, W. E., Witkop, C. J., Jr., Rawls, R. F.
|
|
<strong>Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. The Clinical Delineation of Birth Defects. Eye. Vol. VIII.</strong>
|
|
Baltimore: Williams and Wilkins (pub.) 1971. Pp. 125-128.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="O'Donnell1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., King, R. A., Green, W. R., Witkop, C. J., Jr.
|
|
<strong>Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males.</strong>
|
|
Arch. Ophthal. 96: 1621-1625, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/687204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">687204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=687204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1978.03910060255013" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Okoro1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okoro, A. N.
|
|
<strong>Albinism in Nigeria: a clinical and social study.</strong>
|
|
Brit. J. Derm. 92: 485-492, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1174464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1174464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1174464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Ramsay1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ramsay, M., Colman, M.-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., Jenkins, T.
|
|
<strong>The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.</strong>
|
|
Am. J. Hum. Genet. 51: 879-884, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Rooryck2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B.
|
|
<strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong>
|
|
Hum. Genet. 129: 199-208, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Rose1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rose, N. C., Menacker, S. J., Schnur, R. E., Jackson, L., McDonald-McGinn, D. M., Stump, T., Emanuel, B. S., Zackai, E. H.
|
|
<strong>Ocular albinism in a male with del(6)(q13-q15): candidate region for autosomal recessive ocular albinism?</strong>
|
|
Am. J. Med. Genet. 42: 700-705, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320420515" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Schmitz2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B.
|
|
<strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong>
|
|
Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12506050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12506050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12506050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.02-0156" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Scialfa1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scialfa, A. C.
|
|
<strong>Ocular albinism in a female.</strong>
|
|
Am. J. Ophthal. 73: 943-948, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5032699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5032699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5032699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(72)90464-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Spritz1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Spritz, R. A., Fukai, K., Holmes, S. A., Luande, J.
|
|
<strong>Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).</strong>
|
|
Am. J. Hum. Genet. 56: 1320-1323, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7762554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7762554</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7762554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Stevens1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stevens, G., Ramsay, M., Jenkins, T.
|
|
<strong>Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.</strong>
|
|
Hum. Genet. 99: 523-527, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9099845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9099845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9099845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050400" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Stevens1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stevens, G., van Beukering, J., Jenkins, T., Ramsay, M.
|
|
<strong>An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in Southern African Negroids.</strong>
|
|
Am. J. Hum. Genet. 56: 586-591, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Sulem2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others.
|
|
<strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong>
|
|
Nature Genet. 39: 1443-1452, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2007.13" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Suzuki2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suzuki, T., Miyamura, Y., Matsunaga, J., Shimizu, H., Kawachi, Y., Ohyama, N., Ishikawa, O., Ishikawa, T., Terao, H., Tomita, Y.
|
|
<strong>Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.</strong>
|
|
J. Invest. Derm. 120: 781-783, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12713581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12713581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12713581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1523-1747.2003.12127.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Trevor-Roper1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trevor-Roper, P. D.
|
|
<strong>Marriage of two complete albinos with normally pigmented offspring.</strong>
|
|
Brit. J. Ophthal. 36: 107-108, 1952.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14904868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14904868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14904868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.36.2.107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Trevor-Roper1963" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
|
|
Trevor-Roper, P. D.
|
|
<strong>Albinism.</strong>
|
|
Proc. Roy. Soc. Med. 56: 21-24, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13994109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13994109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13994109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Walpole1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walpole, I. R., Mulcahy, M. T.
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|
<strong>Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22) balanced translocation.</strong>
|
|
J. Med. Genet. 28: 482-484, 1991.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1910093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1910093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1910093" 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/10.1136/jmg.28.7.482" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Witkop1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witkop, C. J., Jr., Niswander, J. D., Bergsma, D. R., Workman, P. L., White, J. G.
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|
<strong>Tyrosinase-positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility.</strong>
|
|
Am. J. Phys. Anthrop. 36: 397-405, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4624656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajpa.1330360311" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Witkop1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B., King, R. A.
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<strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. Vol. II. (6th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 1989. Pp. 2905-2947.
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</p>
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</div>
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</li>
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<li>
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<a id="42" class="mim-anchor"></a>
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<a id="Witkop1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B.
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<strong>Albinism. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): Metabolic Basis of Inherited Disease. (4th ed.)</strong>
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New York: McGraw-Hill (pub.) 1978. Pp. 282-316.
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</p>
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</div>
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</li>
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<li>
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<a id="43" class="mim-anchor"></a>
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<a id="Witkop1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witkop, C. J., Jr., Van Scott, E. J., Jr., Jacoby, G. A.
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<strong>Evidence for two forms of autosomal recessive albinism in man.</strong>
|
|
In: Gedda, L.: Proceedings of the Second International Congress of Human Genetics, Rome, Sept. 6-12, 1961. Vol. 2. Rome: Instituto G. Mendel (pub.) 1963. Pp. 1064-1065.
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</p>
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</div>
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<li>
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<a id="44" class="mim-anchor"></a>
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<a id="Witkop1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witkop, C. J., Jr.
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<strong>Personal Communication.</strong>
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Minneapolis, Minn. 1966.
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</p>
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</div>
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</li>
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<li>
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<a id="45" class="mim-anchor"></a>
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<a id="Woolf1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woolf, C. M., Dukepoo, F. C.
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<strong>Hopi Indians, inbreeding and albinism.</strong>
|
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Science 164: 30-37, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5773710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5773710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5773710" 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/10.1126/science.164.3875.30" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="46" class="mim-anchor"></a>
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<a id="Woolf1965" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Woolf, C. M.
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|
<strong>Albinism among Indians in Arizona and New Mexico.</strong>
|
|
Am. J. Hum. Genet. 17: 23-35, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14255554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14255554</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14255554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="47" class="mim-anchor"></a>
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<a id="Yi2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H.
|
|
<strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong>
|
|
Am. J. Hum. Genet. 72: 62-72, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[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=12469324" 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/10.1086/345380" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/24/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/26/2011<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Cassandra L. Kniffin - updated : 9/11/2007<br>Victor A. McKusick - updated : 2/8/2007<br>Marla J. F. O'Neill - updated : 2/14/2006<br>Victor A. McKusick - updated : 12/27/2005<br>Anne M. Stumpf - updated : 9/9/2003<br>Gary A. Bellus - updated : 5/20/2003<br>Jane Kelly - updated : 3/19/2003<br>Victor A. McKusick - updated : 1/22/2003<br>Patricia A. Hartz - updated : 9/24/2002<br>Victor A. McKusick - updated : 9/18/2001<br>Victor A. McKusick - updated : 3/20/2001<br>Victor A. McKusick - updated : 2/22/2000<br>Victor A. McKusick - updated : 5/19/1997<br>Alan F. Scott - updated : 10/11/1995
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/25/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 10/24/2023<br>alopez : 12/15/2022<br>carol : 09/07/2016<br>carol : 07/15/2016<br>carol : 7/9/2016<br>carol : 7/9/2016<br>carol : 5/3/2016<br>carol : 5/2/2016<br>carol : 9/12/2013<br>terry : 3/14/2013<br>terry : 12/21/2012<br>terry : 4/12/2012<br>terry : 3/16/2012<br>terry : 9/28/2011<br>wwang : 5/13/2011<br>ckniffin : 4/26/2011<br>wwang : 9/20/2010<br>carol : 12/23/2009<br>terry : 12/17/2009<br>terry : 12/4/2009<br>wwang : 9/2/2009<br>wwang : 4/15/2009<br>ckniffin : 3/3/2009<br>alopez : 2/19/2008<br>alopez : 2/19/2008<br>alopez : 2/19/2008<br>carol : 9/13/2007<br>ckniffin : 9/13/2007<br>carol : 9/12/2007<br>ckniffin : 9/11/2007<br>terry : 8/9/2007<br>alopez : 2/12/2007<br>alopez : 2/12/2007<br>alopez : 2/9/2007<br>terry : 2/8/2007<br>carol : 1/11/2007<br>terry : 11/15/2006<br>wwang : 2/16/2006<br>terry : 2/14/2006<br>alopez : 1/9/2006<br>alopez : 12/28/2005<br>terry : 12/27/2005<br>carol : 3/17/2004<br>alopez : 11/21/2003<br>cwells : 11/10/2003<br>alopez : 9/9/2003<br>alopez : 5/20/2003<br>cwells : 3/19/2003<br>alopez : 1/24/2003<br>terry : 1/22/2003<br>mgross : 9/24/2002<br>ckniffin : 5/29/2002<br>ckniffin : 5/15/2002<br>carol : 5/14/2002<br>mcapotos : 9/18/2001<br>alopez : 5/25/2001<br>carol : 4/13/2001<br>cwells : 3/30/2001<br>terry : 3/20/2001<br>carol : 4/14/2000<br>carol : 4/14/2000<br>mcapotos : 3/23/2000<br>mcapotos : 3/22/2000<br>mcapotos : 3/15/2000<br>mcapotos : 3/15/2000<br>terry : 2/22/2000<br>mgross : 10/20/1999<br>mgross : 9/21/1999<br>carol : 2/11/1999<br>carol : 12/17/1998<br>terry : 6/4/1998<br>mark : 6/9/1997<br>mark : 5/19/1997<br>terry : 5/19/1997<br>carol : 6/19/1996<br>mark : 6/6/1996<br>terry : 5/30/1996<br>mark : 1/30/1996<br>terry : 1/24/1996<br>mark : 12/13/1995<br>mark : 10/11/1995<br>mark : 4/4/1995<br>carol : 1/5/1995<br>terry : 12/30/1994<br>davew : 8/19/1994<br>jason : 7/28/1994
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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 class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 203200
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
OCULOCUTANEOUS ALBINISM, TYPE II<br />
|
|
OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE<br />
|
|
ALBINISM II
|
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</span>
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</h4>
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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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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
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|
BROWN OCULOCUTANEOUS ALBINISM, INCLUDED
|
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 11160000, 26336006;
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|
|
<strong>ICD10CM:</strong> E70.321;
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<strong>ORPHA:</strong> 79432;
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<strong>DO:</strong> 0070096;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
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<tr>
|
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<td>
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<span class="mim-font">
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15q12-q13.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Albinism, oculocutaneous, type II
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
203200
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|
</span>
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</td>
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<td>
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|
<span class="mim-font">
|
|
Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
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|
</span>
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</td>
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<td>
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<span class="mim-font">
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OCA2
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</span>
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</td>
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<td>
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<span class="mim-font">
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611409
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
15q12-q13.1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Albinism, brown oculocutaneous
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
203200
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|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
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|
</span>
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</td>
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<td>
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|
<span class="mim-font">
|
|
3
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|
</span>
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</td>
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<td>
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<span class="mim-font">
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OCA2
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</span>
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</td>
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<td>
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<span class="mim-font">
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611409
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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16q24.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Albinism, oculocutaneous, type II, modifier of}
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</span>
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</td>
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<td>
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<span class="mim-font">
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203200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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MC1R
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</span>
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</td>
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<td>
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<span class="mim-font">
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155555
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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>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 oculocutaneous albinism type II (OCA2) is caused by homozygous or compound heterozygous mutation in the OCA2 gene (611409) on chromosome 15q.</p><p>For a discussion of genetic heterogeneity of OCA, see OCA1A (203100).</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>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>Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). </p><p>OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001). </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>Clinical Features</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>Trevor-Roper (1952, 1963) reported 2 albino parents who had 4 normally pigmented children. Inheritance was most likely autosomal recessive. X-linked albinism could be excluded because the obligate heterozygous daughters of the father did not have mosaic pigmentary patterns in the ocular fundus. Trevor-Roper (1963) suggested that the parents had different forms of albinism. Applying the chemical method of Kugelman and Van Scott (1961), Witkop (1966) examined the family reported by Trevor-Roper (1952, 1963) and found that whereas the mother did not show pigmentation in the Kugelman-Van Scott test, the father did show pigment. Witkop (1966) asserted that it is difficult to distinguish tyrosinase-positive from tyrosinase-negative albinism clinically, especially in Caucasians. Pigmented nevi in tyrosine-positive cases may be the only clue. In blacks with this form of albinism, the hair is yellow and many pigmented spots develop in the skin. In such cases, Witkop (1966) hypothesized a block in the formation of eumelanin with a continuing formation of pheomelanin. </p><p>Witkop et al. (1978) referred to 4 families in which males and females were equally severely affected with a form of ocular albinism without apparent skin involvement. Affected females had ocular changes similar to those of hemizygous males with X-linked ocular albinism (OA1; 300500). Some of the parents had diaphanous irides. None of the mothers had affected male relatives, and 2 of the families were Amish with consanguineous parents, suggesting autosomal recessive inheritance. The authors noted that ocular albinism had been reported in a female by Scialfa (1972). O'Donnell et al. (1978) observed 7 females and 2 males from unrelated Caucasian kindreds with ocular albinism. Affected individuals showed impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hyperplasia of the fovea, and strabismus. Unlike the X-linked form of ocular albinism, females were as severely affected as males, obligatory heterozygotes lacked the mosaic pattern, and skin and hairbulbs did not show giant pigment granules. Autosomal recessive inheritance was suggested. </p><p>Castle et al. (1988) could demonstrate no asymmetry on monocular testing of visual evoked potentials to suggest an abnormality of decussation in heterozygotes. </p><p>Witkop et al. (1989) stated that tyrosinase-positive albinism was the form present in the Hopi and Zuni Indians studied by Woolf (1965) and Woolf and Dukepoo (1969). This form was also found in the Brandywine triracial isolate (Witkop et al., 1972). </p><p>In southern Africa, negroids with tyrosinase-positive ocular cutaneous albinism present with 2 distinctly different phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes were concordant within families. Among 111 albinos from southern Africa, Kromberg et al. (1989) found a correlation between the presence of ephelides and a lower risk of developing skin cancer, possibly as the result of the presence of some melanin pigment offering photoprotection. </p><p>Brown oculocutaneous albinism (BOCA) in humans is linked to the P locus, where mutations causing OCA2 are located. The occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic (Manga, 1997).</p><p>Using MRI, Schmitz et al. (2003) found that the size and configuration of the optic chiasm in humans with albinism are distinctly different from the chiasms of normal control subjects. These chiasmal changes reflect the atypical crossing of the optic fibers, irrespective of the causative gene mutation. Eight patients had tyrosinase gene-related OCA1, 4 patients had P gene-related OCA2, and 1 had ocular albinism (OA1); the albinism-causing mutation had not been identified in 4 other patients. </p><p><strong><em>Clinical Variability</em></strong></p><p>
|
|
Chiang et al. (2008) noted that heterozygous carriers of the common 2.7-kb deletion in the OCA2 gene (611409.0001) from sub-Saharan Africa are not hypopigmented. However, Caucasian individuals with Prader-Willi syndrome (PWS; 176270) or Angelman syndrome (AS; 105830), who are haploinsufficient for the OCA2 gene, often show hypopigmentation. The authors concluded that the phenotype of haploinsufficiency for the OCA2 gene depends upon the genetic pigmentary background of the individual. Chiang et al. (2008) presented a Hispanic family in which the proband with OCA2 was compound heterozygous for the 2.7-kb deletion and another pathogenic mutation in the OCA2 gene. Family members carrying the heterozygous 2.7-kb deletion had mild skin hypopigmentation without ocular defects. The findings suggested that haploinsufficiency of the OCA2 gene can contribute to skin hypopigmentation that may be more obvious in Caucasian or Hispanic populations compared to Africans, who have color above the threshold of distinction. The report of Chiang et al. (2008) was in agreement with the findings of Sulem et al. (2007), who found a role for variations in the OCA2 gene in skin/hair/eye pigmentation (SHEP1; 227220). </p>
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</span>
|
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<div>
|
|
<br />
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</div>
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>The transmission pattern of OCA2 in the families reported by Durham-Pierre et al. (1994) was consistent with autosomal recessive inheritance. </p>
|
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</span>
|
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<div>
|
|
<br />
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|
</div>
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|
|
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</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">
|
|
<p>Studying Bantu subjects in South Africa, Ramsay et al. (1992) demonstrated linkage of the OCA2 locus to 2 DNA markers, D15S10 and D15S13, in the region 15q11.2-q12. Since the pink-eyed dilution locus, p, on mouse chromosome 7, maps to a region of homology of synteny with human 15q, Ramsay et al. (1992) postulated that the OCA2 and p loci are homologous. </p><p>Kedda et al. (1994) analyzed for linkage with markers on 15q11-q13 in 41 southern African negroid families, each containing at least 1 affected tyrosinase-positive albino. Analysis showed no obligatory crossovers between the alleles at D15S12 and a tyrosinase-positive OCA, suggesting that the D15S12 locus is very close to or part of the disease locus, P. The affected persons in 13 of the families had ephelides; those in 23 families did not have ephelides; and those in 5 families were of unknown ephelis status, with 100% concordance with respect to ephelis status in all 36 families. </p><p>Manga et al. (2001) showed by linkage analysis in 5 families that the BOCA phenotype maps to the same region as the OCA2 locus on 15q. </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">
|
|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous kindred with OCA2, Durham-Pierre et al. (1994) identified a homozygous 2.7-kb deletion encompassing an exon of the P gene (611409.0001). The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. </p><p>In 4 unrelated patients with OCA2, Lee et al. (1994) identified mutations in the OCA2 gene (see, e.g., 611409.0002-611409.0006). </p><p>Lee et al. (1994) studied 7 unrelated African American patients with OCA2 and identified different abnormalities of the P gene in all 7. In addition to the single exon deletion found by Durham-Pierre et al. (1994), they observed 2 large deletions, 2 small in-frame deletions, and 6 different point mutations. </p><p>Stevens et al. (1995) also found that the 2.7-kb intragenic deletion first identified by Durham-Pierre et al. (1994) is a frequent cause of OCA2 in South African negroids, being found in 114 of 146 (78%) of OCA2 chromosomes. A common haplotype was found in 43 of 55 (78%) OCA2 chromosomes studied, confirming the African origin of this allele. On the basis of haplotype data, it appeared that at least 7 additional, less-frequent OCA2 mutations had occurred in this population. Spritz et al. (1995) found that the same 2.7-kb deletion allele accounted for most of the mutant P alleles in Tanzania. The 2.7-kb deletion includes exon 7 and results in a frameshift and premature termination of the predicted polypeptide product. </p><p>In a screening of filter blood spots from 470 newborn African Americans in Michigan, Durham-Pierre et al. (1996) found that 2 were heterozygous for the 2.7-kb deletion. </p><p>Kerr et al. (2000) screened the coding region of the P gene for mutations in the non-2.7-kb deletion alleles of OCA2 patients who did not carry the deletion allele in either 1 or both of their P genes. In a group of 39 unrelated black OCA2 patients with a total of 52 non-2.7-kb deletion OCA2 genes, they identified 4 mutations, including A334V (611409.0007). </p><p>Manga (1997) found that a large proportion (9/10) of BOCA subjects are compound heterozygotes for the common 2.7-kb deletion and another pathogenic mutation in the OCA2 gene. Mutation analysis of the P gene in 10 unrelated individuals with BOCA in southern Africa revealed that 9 had 1 copy of the 2.7-kb deletion. Manga et al. (2001) suggested that the second mutation in the subjects with BOCA may be a milder mutation, possibly in the promoter region (downregulating expression) or in other regions of the P gene they did not screen. </p><p>Rooryck et al. (2011) stated that rearrangements of the OCA2 gene may be present in about 20% of OCA2 patients, indicating that high-resolution array CGH analysis is important for adequate molecular diagnosis in candidate patients. </p><p>In a mother and 3 of her children with oculocutaneous or ocular albinism from a Czech family also segregating autosomal dominant retinal dystrophy with coloboma (see 616722), Jedlickova et al. (2023) identified biallelic mutations in the OCA2 gene: the mother and a daughter, who both had oculocutaneous albinism, were compound heterozygous for the previously reported V443I mutation (611409.0004) and a large complex rearrangement in the OCA2 gene, whereas the 2 sons, who had ocular albinism, were homozygous for the V443I mutation. The authors noted that the brothers had normal visual acuity with discrete fundus hypopigmentation and foveal hypoplasia, which was only revealed due to the familial investigation. </p><p><strong><em>Modifier Genes</em></strong></p><p>
|
|
Chiang et al. (2008) reported a Hispanic girl with OCA2 caused by compound heterozygous mutations in the OCA2 gene. She had pale skin, blue irides, and visual defects, including horizontal nystagmus, irides that transilluminated light, absence of foveal reflexes, albinotic fundi, and decreased visual acuity. However, she also had curly reddish-blonde hair, which was unusual for OCA2. The unaffected mother was of Puerto Rican and Cuban descent, and the unaffected father was of Dominican and Ecuadorian descent. Each parent was heterozygous for an OCA2 mutation. Further genetic analysis identified a heterozygous mutation in the TYRP1 gene (S166X; 115501.0002) in the girl and her father. The father, who had haploinsufficiency at the OCA2 and TYRP1 loci together, did not have a noticeable phenotype. Variations in the MC1R gene (155555) associated with red hair (SHEP2; 266300) were not identified. Chiang et al. (2008) concluded that haploinsufficiency of TYRP1 can modify the OCA2 phenotype, resulting in red hair in the absence of MC1R red alleles. </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>Lee et al. (1994) gave the overall frequency of OCA2 in the United States as approximately 1:36,000; however, the incidence is about 1:10,000 among African Americans and is said to have a prevalence of 1:1,100 in the Ibo of Nigeria (Okoro, 1975) and a rate of about 1:3,900 in negroids of South Africa (Kromberg and Jenkins (1982, 1984)) where it is the most common recessive genetic disorder of this group. Throughout sub-Saharan Africa, OCA2 is responsible for a great deal of morbidity, with skin cancer and gross visual impairment being important sequelae. </p><p>Kagore and Lund (1995) found that the prevalence of OCA2 in school children in Harare, the capital city of Zimbabwe, was 1:2,833. On the basis of this prevalence, the gene frequency for OCA2 was estimated to be 0.0188, with a carrier frequency of 1:27. Most of the school children with albinism belonged to the majority Shoney ethnic group. As consanguineous marriages were discouraged in the Shoney culture, this high rate was probably the result of genetic drift in a relatively small population showing limited mobility. </p><p>Stevens et al. (1997) found the common 2.7-kb P gene deletion (611409.0001) in 10 (1.3%) of 780 OCA2 chromosomes in a normally pigmented southern African population, and at a lower frequency in normally pigmented individuals from central Africa, 2 (0.2%) of 834 OCA2 chromosomes. Among OCA2-affected individuals, the deletion was found in 131 (77%) of 170 OCA2 chromosomes in southern Africa, 11 (79%) of 14 OCA2 chromosomes in Zambia, and 4 (33%) of 12 OCA2 chromosomes in the Central African Republic. The study confirmed the African origin of the deletion allele. Haplotype analysis suggested that the deletion mutation occurred only once and that it arose before the divergence of these African populations, which was estimated to be about 2,000 to 3,000 years ago. The unusually high frequency of OCA2 mutations, in particular the 2.7-kb deletion, suggested selection or genetic drift. </p><p>A high frequency of albinism has been found among several Native American populations, varying in frequency from 1:140 in the Jemez to 1:3,750 in the Navajo (Woolf, 1965; Woolf and Dukepoo, 1969). Yi et al. (2003) studied albinism among the Navajos, who live predominantly in northeastern Arizona. The phenotype of albinism in the Navajos overlaps those for OCA2 and for OCA4 (606574), which are caused by mutations in the P and MATP (SLC45A2; 606202) genes, respectively. Consequently, Yi et al. (2003) did a mutation screen of these 2 genes. Although no mutations were found in the MATP gene, all Navajos with albinism were found to have a homozygous deletion of 122.5 kb of genomic DNA, including exons 10 through 20 of the P gene (611409.0008). The deletion allele was not found in 34 other individuals with albinism who had other Native American origins, and had not been reported in any other ethnic group. The molecular characterization of the deletion allele allowed Yi et al. (2003) to design a 3-primer PCR system to estimate the carrier frequency in the Navajo population, an estimated 4.5%. The estimated prevalence of OCA2 in Navajos is between 1:1,500 and 1:2,000. They estimated that this mutation originated from a single founder 400 to 1,000 years ago. </p><p>Suzuki et al. (2003) performed mutation analysis on 40 OCA1-negative Japanese albino patients and identified 6 different novel mutations in 6 unrelated patients. They estimated the frequency of OCA2 in the Japanese albino population to be 8%, indicating that OCA2 was not as common as OCA1. Thirty-four patients remained as unclassified OCA, supporting the idea that a third locus might be a major contributor to OCA. </p><p>Rooryck et al. (2011) identified a 184-kb deletion in the OCA2 gene (611409.0015) as a founder mutation in 3 unrelated patients of Polish ancestry with OCA2. Sequence analysis indicated that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining (NHEJ) as the molecular mechanism. </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 ocular albinism is known in rabbits (Magnussen, 1952).</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">
|
|
<strong>History</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">
|
|
<p>The male and his sister reported by McKusick (1964) as having 'albinoidism' in fact had autosomal recessive ocular albinism. </p><p>In a study of 20 informative families, Heim et al. (1988) excluded linkage between the tyrosinase-positive oculocutaneous albinism locus and the beta-globin locus (HBB; 141900); the maximum lod score was -9.85 at theta = 0.05. </p><p>Walpole and Mulcahy (1991) reported a family with a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). One child with the translocation also had tyrosinase-positive albinism. The authors postulated that the OCA2 gene resides at either 2q31.1 or 4q31.22 and was disrupted by the translocation, but did not lead to albinism until it was paired up with a mutant gene at that locus through mating of a translocation carrier with a carrier of the mutant gene. </p><p>Rose et al. (1992) reported ocular albinism in a male with deletion of the q13-q15 region of chromosome 6. The deletion was secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. The facial features were described as 'coarse,' with upslanting palpebral fissures, thin vermilion border of the upper lip, and elongated philtrum. Rose et al. (1992) postulated that the ocular albinism was due to hemizygosity for a paternally derived gene located in the region 6q13-q15. The father, an African American, had dark brown skin, hair, and eyes, with normal visual acuity and no abnormal iris transillumination. </p><p>In linkage studies in negroid peoples of South Africa, Colman et al. (1993) excluded the tyrosinase locus (606933) on chromosome 11 and the CAS2/TRP1 locus (115501) on chromosome 9 as the site of the mutation in tyrosinase-positive oculocutaneous albinism. </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">
|
|
<strong>See Also:</strong>
|
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</span>
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</h4>
|
|
<span class="mim-text-font">
|
|
Nance et al. (1970); Nance et al. (1971); Witkop et al. (1963)
|
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</span>
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<div>
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<br />
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|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Castle, D., Kromberg, J., Kowalsky, R., Moosa, R., Gillman, N., Zwane, E., Fritz, V.
|
|
<strong>Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.</strong>
|
|
J. Med. Genet. 25: 835-837, 1988.
|
|
|
|
|
|
[PubMed: 3148727]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.25.12.835]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M.
|
|
<strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 2427-2430, 2008.
|
|
|
|
|
|
[PubMed: 18680187]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32453]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiang, P.-W., Spector, E., Tsai, A. C.-H.
|
|
<strong>Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. (Letter)</strong>
|
|
Am. J. Med. Genet. 146A: 1493-1496, 2008.
|
|
|
|
|
|
[PubMed: 18449927]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32321]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Colman, M. A., Stevens, G., Ramsay, M., Kwon, B., Jenkins, T.
|
|
<strong>Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.</strong>
|
|
Hum. Genet. 90: 556-560, 1993.
|
|
|
|
|
|
[PubMed: 8428754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00217458]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H.
|
|
<strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong>
|
|
Nature Genet. 7: 176-179, 1994.
|
|
|
|
|
|
[PubMed: 7920637]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0694-176]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Durham-Pierre, D., King, R. A., Naber, J. M., Laken, S., Brilliant, M. H.
|
|
<strong>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.</strong>
|
|
Hum. Mutat. 7: 370-373, 1996.
|
|
|
|
|
|
[PubMed: 8723691]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heim, R. A., Dunn, D. S., Candy, S. E., Zwane, E., Kromberg, J. G. R., Jenkins, T.
|
|
<strong>The tyrosine-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.</strong>
|
|
Hum. Genet. 79: 89, 1988.
|
|
|
|
|
|
[PubMed: 3130302]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291719]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P.
|
|
<strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong>
|
|
Clin. Genet. 104: 418-426, 2023.
|
|
|
|
|
|
[PubMed: 37321975]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.14391]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kagore, F., Lund, P. M.
|
|
<strong>Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.</strong>
|
|
J. Med. Genet. 32: 859-861, 1995.
|
|
|
|
|
|
[PubMed: 8592327]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.11.859]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kedda, M. A., Stevens, G., Manga, P., Viljoen, C., Jenkins, T., Ramsay, M.
|
|
<strong>The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in Southern African negroids.</strong>
|
|
Am. J. Hum. Genet. 54: 1078-1084, 1994. Note: Erratum: Am. J. Hum. Genet. 55: 602 only, 1994.
|
|
|
|
|
|
[PubMed: 8198130]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., Ramsay, M.
|
|
<strong>Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.</strong>
|
|
Hum. Mutat. 15: 166-172, 2000. Note: Erratum: Hum. Mutat. 16: following 86, 2000.
|
|
|
|
|
|
[PubMed: 10649493]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
King, R. A., Hearing, V. J., Creel, D. J., Oetting, W. S.
|
|
<strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 5587-5627.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Castle, D., Zwane, E. M., Jenkins, T.
|
|
<strong>Albinism and skin cancer in southern Africa.</strong>
|
|
Clin. Genet. 36: 43-52, 1989.
|
|
|
|
|
|
[PubMed: 2766562]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03365.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Jenkins, T.
|
|
<strong>Prevalence of albinism in the South African Negro.</strong>
|
|
S. Afr. Med. J. 61: 383-386, 1982.
|
|
|
|
|
|
[PubMed: 7064008]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kromberg, J. G. R., Jenkins, T.
|
|
<strong>Albinism in the South African Negro. III. Genetic counselling issues.</strong>
|
|
J. Biosoc. Sci. 16: 99-108, 1984.
|
|
|
|
|
|
[PubMed: 6699045]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1017/s0021932000014838]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kugelman, T. P., Van Scott, E. J.
|
|
<strong>Tyrosinase activity in melanocytes of human albinos.</strong>
|
|
J. Invest. Derm. 37: 73-76, 1961.
|
|
|
|
|
|
[PubMed: 13754937]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A.
|
|
<strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong>
|
|
New Eng. J. Med. 330: 529-534, 1994.
|
|
|
|
|
|
[PubMed: 8302318]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199402243300803]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A.
|
|
<strong>Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).</strong>
|
|
Hum. Molec. Genet. 3: 2047-2051, 1994.
|
|
|
|
|
|
[PubMed: 7874125]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Magnussen, K.
|
|
<strong>Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen.</strong>
|
|
Z. Morph. Anthrop. 44: 127-135, 1952.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M.
|
|
<strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong>
|
|
Am. J. Hum. Genet. 68: 782-787, 2001.
|
|
|
|
|
|
[PubMed: 11179026]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/318800]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Manga, P.
|
|
<strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong>
|
|
Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Medical genetics 1963.</strong>
|
|
J. Chronic Dis. 17: 1077-1215, 1964.
|
|
|
|
|
|
[PubMed: 14255733]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9681(64)90158-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nance, W. E., Jackson, C. E., Witkop, C. J., Jr.
|
|
<strong>Amish albinism: a distinctive autosomal recessive phenotype.</strong>
|
|
Am. J. Hum. Genet. 22: 579-586, 1970.
|
|
|
|
|
|
[PubMed: 5516239]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nance, W. E., Witkop, C. J., Jr., Rawls, R. F.
|
|
<strong>Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. The Clinical Delineation of Birth Defects. Eye. Vol. VIII.</strong>
|
|
Baltimore: Williams and Wilkins (pub.) 1971. Pp. 125-128.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., King, R. A., Green, W. R., Witkop, C. J., Jr.
|
|
<strong>Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males.</strong>
|
|
Arch. Ophthal. 96: 1621-1625, 1978.
|
|
|
|
|
|
[PubMed: 687204]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1978.03910060255013]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okoro, A. N.
|
|
<strong>Albinism in Nigeria: a clinical and social study.</strong>
|
|
Brit. J. Derm. 92: 485-492, 1975.
|
|
|
|
|
|
[PubMed: 1174464]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ramsay, M., Colman, M.-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., Jenkins, T.
|
|
<strong>The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.</strong>
|
|
Am. J. Hum. Genet. 51: 879-884, 1992.
|
|
|
|
|
|
[PubMed: 1415228]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B.
|
|
<strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong>
|
|
Hum. Genet. 129: 199-208, 2011.
|
|
|
|
|
|
[PubMed: 21085994]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-010-0913-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rose, N. C., Menacker, S. J., Schnur, R. E., Jackson, L., McDonald-McGinn, D. M., Stump, T., Emanuel, B. S., Zackai, E. H.
|
|
<strong>Ocular albinism in a male with del(6)(q13-q15): candidate region for autosomal recessive ocular albinism?</strong>
|
|
Am. J. Med. Genet. 42: 700-705, 1992.
|
|
|
|
|
|
[PubMed: 1632442]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320420515]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B.
|
|
<strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong>
|
|
Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.
|
|
|
|
|
|
[PubMed: 12506050]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.02-0156]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scialfa, A. C.
|
|
<strong>Ocular albinism in a female.</strong>
|
|
Am. J. Ophthal. 73: 943-948, 1972.
|
|
|
|
|
|
[PubMed: 5032699]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(72)90464-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spritz, R. A., Fukai, K., Holmes, S. A., Luande, J.
|
|
<strong>Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).</strong>
|
|
Am. J. Hum. Genet. 56: 1320-1323, 1995.
|
|
|
|
|
|
[PubMed: 7762554]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stevens, G., Ramsay, M., Jenkins, T.
|
|
<strong>Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.</strong>
|
|
Hum. Genet. 99: 523-527, 1997.
|
|
|
|
|
|
[PubMed: 9099845]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050400]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stevens, G., van Beukering, J., Jenkins, T., Ramsay, M.
|
|
<strong>An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in Southern African Negroids.</strong>
|
|
Am. J. Hum. Genet. 56: 586-591, 1995.
|
|
|
|
|
|
[PubMed: 7887411]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others.
|
|
<strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong>
|
|
Nature Genet. 39: 1443-1452, 2007.
|
|
|
|
|
|
[PubMed: 17952075]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2007.13]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, T., Miyamura, Y., Matsunaga, J., Shimizu, H., Kawachi, Y., Ohyama, N., Ishikawa, O., Ishikawa, T., Terao, H., Tomita, Y.
|
|
<strong>Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.</strong>
|
|
J. Invest. Derm. 120: 781-783, 2003.
|
|
|
|
|
|
[PubMed: 12713581]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.2003.12127.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trevor-Roper, P. D.
|
|
<strong>Marriage of two complete albinos with normally pigmented offspring.</strong>
|
|
Brit. J. Ophthal. 36: 107-108, 1952.
|
|
|
|
|
|
[PubMed: 14904868]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.36.2.107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trevor-Roper, P. D.
|
|
<strong>Albinism.</strong>
|
|
Proc. Roy. Soc. Med. 56: 21-24, 1963.
|
|
|
|
|
|
[PubMed: 13994109]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Walpole, I. R., Mulcahy, M. T.
|
|
<strong>Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22) balanced translocation.</strong>
|
|
J. Med. Genet. 28: 482-484, 1991.
|
|
|
|
|
|
[PubMed: 1910093]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.28.7.482]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witkop, C. J., Jr., Niswander, J. D., Bergsma, D. R., Workman, P. L., White, J. G.
|
|
<strong>Tyrosinase-positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility.</strong>
|
|
Am. J. Phys. Anthrop. 36: 397-405, 1972.
|
|
|
|
|
|
[PubMed: 4624656]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajpa.1330360311]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B., King, R. A.
|
|
<strong>Albinism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. Vol. II. (6th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 1989. Pp. 2905-2947.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witkop, C. J., Jr., Quevedo, W. C., Jr., Fitzpatrick, T. B.
|
|
<strong>Albinism. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): Metabolic Basis of Inherited Disease. (4th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 1978. Pp. 282-316.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witkop, C. J., Jr., Van Scott, E. J., Jr., Jacoby, G. A.
|
|
<strong>Evidence for two forms of autosomal recessive albinism in man.</strong>
|
|
In: Gedda, L.: Proceedings of the Second International Congress of Human Genetics, Rome, Sept. 6-12, 1961. Vol. 2. Rome: Instituto G. Mendel (pub.) 1963. Pp. 1064-1065.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Witkop, C. J., Jr.
|
|
<strong>Personal Communication.</strong>
|
|
Minneapolis, Minn. 1966.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Woolf, C. M., Dukepoo, F. C.
|
|
<strong>Hopi Indians, inbreeding and albinism.</strong>
|
|
Science 164: 30-37, 1969.
|
|
|
|
|
|
[PubMed: 5773710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.164.3875.30]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Woolf, C. M.
|
|
<strong>Albinism among Indians in Arizona and New Mexico.</strong>
|
|
Am. J. Hum. Genet. 17: 23-35, 1965.
|
|
|
|
|
|
[PubMed: 14255554]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H.
|
|
<strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong>
|
|
Am. J. Hum. Genet. 72: 62-72, 2003.
|
|
|
|
|
|
[PubMed: 12469324]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/345380]
|
|
|
|
|
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