3877 lines
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- *606897 - LYSOSOMAL TRAFFICKING REGULATOR; LYST
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- OMIM
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<p>
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<span class="h4">*606897</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606897">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000143669;t=ENST00000389793" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1130" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606897" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000143669;t=ENST00000389793" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000081,NM_001301365,NR_102436,XM_011544031,XM_011544032,XM_011544033,XM_011544035,XM_011544036,XM_011544037,XM_011544039,XM_047443026,XM_047443027,XM_047443034,XM_047443038,XM_047443040,XM_047443046,XM_047443064" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000081" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606897" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=06060&isoform_id=06060_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/LYST" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1685034,1763238,1806626,1929901,2654474,54292123,76803797,119590440,119590441,119590442,119590443,119590444,219518362,672424497,767912066,767912068,767912070,767912074,767912076,767912078,767912082,2217263446,2217263449,2217263452,2217263455,2217263457,2217263459,2217263462,2462502533,2462502535,2462502537,2462502539,2462502541,2462502543,2462502545,2462502547,2462502549,2462502551,2462502553,2462502555,2462502557" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q99698" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=1130" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000143669;t=ENST00000389793" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=LYST" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=LYST" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+1130" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/LYST" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:1130" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1130" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000389793.7&hgg_start=235661031&hgg_end=235883713&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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="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="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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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1968" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1968" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/lyst" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606897[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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606897[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/LYST/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000143669" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=LYST" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=LYST" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LYST" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/LYSTbase/" title="LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">LYSTbase: Mutation registr…</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/chsmut.htm" title="Mutations of the Chediak Higashi Syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Chediak H…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LYST&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA26500" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</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/gene/HGNC:1968" 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="https://www.mousephenotype.org/data/genes/MGI:107448" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/LYST#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:107448" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1130/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000185,002449" 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><a href="https://www.orthodb.org/?ncbi=1130" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070702-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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://reactome.org/content/query?q=LYST&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</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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</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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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606897
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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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LYSOSOMAL TRAFFICKING REGULATOR; LYST
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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>
|
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<span class="mim-font">
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|
CHS1 GENE; CHS1
|
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LYST" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LYST</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1820?start=-3&limit=10&highlight=1820">1q42.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:235661031-235883713&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:235,661,031-235,883,713</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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|
Location
|
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</th>
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<th>
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|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1820?start=-3&limit=10&highlight=1820">
|
|
1q42.3
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Chediak-Higashi syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/214500"> 214500 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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<p>Studies of the Chediak-Higashi syndrome (CHS; <a href="/entry/214500">214500</a>) led to identification and characterization of the LYST gene. In 'beige' mice, the murine equivalent of Chediak-Higashi syndrome, <a href="#14" class="mim-tip-reference" title="Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., Kaplan, J. <strong>Identification of the murine beige gene by YAC complementation and positional cloning.</strong> Nature Genet. 13: 303-308, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673129</a>] [<a href="https://doi.org/10.1038/ng0796-303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673129">Perou et al. (1996)</a> succeeded in identifying the 'beige' gene by in vitro complementation and positional cloning, and confirmed its identification by defining mutations in 2 independent mutant alleles. The sequence of the 'beige' gene transcript showed strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the gene that is mutant in Chediak-Higashi syndrome. The predicted 2,186-amino acid polypeptide shows significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae (e.g., CDC4), Caenorhabditis elegans, and humans (e.g., CDC4L). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although <a href="#14" class="mim-tip-reference" title="Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., Kaplan, J. <strong>Identification of the murine beige gene by YAC complementation and positional cloning.</strong> Nature Genet. 13: 303-308, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673129</a>] [<a href="https://doi.org/10.1038/ng0796-303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673129">Perou et al. (1996)</a> and <a href="#2" class="mim-tip-reference" title="Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., Lovett, M., Kingsmore, S. F. <strong>Identification of the homologous beige and Chediak-Higashi syndrome genes.</strong> Nature 382: 262-265, 1996. Note: Erratum: Nature 385: 97 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8717042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8717042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8717042[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/382262a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8717042">Barbosa et al. (1996)</a> reported identification of the 'beige' gene, the 2 cDNAs were quite different. <a href="#13" class="mim-tip-reference" title="Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. <strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong> Nature Genet. 14: 307-311, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>] [<a href="https://doi.org/10.1038/ng1196-307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896560">Nagle et al. (1996)</a> described the sequence of a human cDNA homologous to mouse 'beige,' identified pathologic mutations in patients with Chediak-Higashi syndrome, and clarified the discrepancies of the previous reports of sequence. Analysis of the CHS1 polypeptide demonstrated that its modular architecture is similar to that of the yeast vacuolar sorting protein VPS15. <a href="#13" class="mim-tip-reference" title="Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. <strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong> Nature Genet. 14: 307-311, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>] [<a href="https://doi.org/10.1038/ng1196-307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896560">Nagle et al. (1996)</a> screened human cDNA libraries with mouse 'beige' probes to yield the human 'beige' cDNA homolog, and found 87.9% amino acid identity between the 2 sequences. The predicted human protein comprises 3,801 amino acids, with a molecular mass of approximately 43 kD. <a href="#1" class="mim-tip-reference" title="Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F. <strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong> Hum. Molec. Genet. 6: 1091-1098, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215680">Barbosa et al. (1997)</a> reported the sequences of 2 major mRNA isoforms of the CHS1 gene in human and mouse. These isoforms differ both in size and in sequence at the 3-prime end of their coding domains, with a small isoform (approximately 5.8 kb) arising from incomplete splicing and reading through an intron. These mRNAs also differ in tissue distribution of transcription and in predicted biologic properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8896560+8673129+9215680+8717042" 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="#12" class="mim-tip-reference" title="Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. <strong>Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.</strong> Anim. Genet. 31: 87-90, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10782205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10782205</a>] [<a href="https://doi.org/10.1046/j.1365-2052.2000.00607.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10782205">Kunieda et al. (2000)</a> cloned the bovine LYST gene and found 90.4% amino acid sequence identity with the human sequence and 83.2% identity with the mouse sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10782205" 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="#7" class="mim-tip-reference" title="Jackson, I. J. <strong>Homologous pigmentation mutations in human, mouse and other model organisms.</strong> Hum. Molec. Genet. 6: 1613-1624, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9300652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9300652</a>] [<a href="https://doi.org/10.1093/hmg/6.10.1613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9300652">Jackson (1997)</a> reviewed homologous pigmentation mutations in human, mouse, and other model organisms. He tabulated the available data on all pigmentation genes cloned from mouse or human, and focused on 3 particular systems. One family of genes, including LYST and HPS (<a href="/entry/203300">203300</a>), shows the relationship between melanosomes and lysosomes. The G protein-coupled receptor, endothelin receptor-B (EDNRB; <a href="/entry/131244">131244</a>) and its ligand, endothelin-3 (EDN3; <a href="/entry/131242">131242</a>) are required for the development of both melanocytes and enteric neurons; mutations in either result in the combination of megacolon and pigmentary anomaly (spotting). The melanocortin-1 receptor (MC1R; <a href="/entry/155555">155555</a>) is expressed only in melanocytes, but mutations that cause overexpression of agouti protein (ASIP; <a href="/entry/600201">600201</a>), an antagonist of the receptor, result in obesity in transgenic mice, thus highlighting a role of melanocortins in weight homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9300652" 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 cells from patients with the Chediak-Higashi syndrome, <a href="#5" class="mim-tip-reference" title="Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S. <strong>Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.</strong> J. Cell Biol. 141: 1121-1134, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9606205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9606205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9606205[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/10.1083/jcb.141.5.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9606205">Faigle et al. (1998)</a> found that peptide loading onto major histocompatibility complex class II molecules and antigen presentation were strongly delayed. Results of other studies suggested that the product of the CHS1 gene is required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9606205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By combining genetic perturbation of sphingolipid metabolism with quantification of TLR (see <a href="/entry/601194">601194</a>) signaling steps and mass spectrometry-based lipidomics in mouse cells, <a href="#11" class="mim-tip-reference" title="Koberlin, M. S., Snijder, B., Heinz, L. X., Baumann, C. L., Fauster, A., Vladimer, G. I., Gavin, A.-C., Superti-Furga, G. <strong>A conserved circular network of coregulated lipids modulates innate immune responses.</strong> Cell 162: 170-183, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26095250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26095250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26095250[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2015.05.051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26095250">Koberlin et al. (2015)</a> uncovered a circular network of coregulated sphingolipids and glycerophospholipids. Quantitative lipidomics on fibroblasts from patients with mutations in GBA (<a href="/entry/606463">606463</a>), GALC (<a href="/entry/606890">606890</a>), ASAH1 (<a href="/entry/613468">613468</a>), or LYST revealed conservation of the circular organization of lipid coregulation across species, cell types, and genetic perturbations. The functional annotation accurately predicted TLR-mediated inflammatory responses, in terms of changes in lipid abundance and lipid species, in patient cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26095250" 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="#10" class="mim-tip-reference" title="Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others. <strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong> Am. J. Med. Genet. 108: 16-22, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857544</a>]" pmid="11857544">Karim et al. (2002)</a> found that the LYST gene consists of 55 exons, with 2 alternative, mutually exclusive 5-prime untranslated regions, whose sequences appear to be encoded by a complex pattern of alternative promoters and alternative RNA splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Because of the relation of the LYST gene to Chediak-Higashi syndrome, linkage studies of the disorder led to the mapping of the gene. <a href="#8" class="mim-tip-reference" title="Jenkins, N. A., Justice, M. J., Gilbert, D. J., Chu, M.-L., Copeland, N. G. <strong>Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.</strong> Genomics 9: 401-403, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672300</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90275-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1672300">Jenkins et al. (1991)</a> predicted that the CHS gene may reside in distal 1q because in the mouse the homologous condition to Chediak-Higashi syndrome shows linkage to the nidogen gene (<a href="/entry/131390">131390</a>) which is located on human 1q. <a href="#3" class="mim-tip-reference" title="Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G. <strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong> Am. J. Hum. Genet. 59: 625-632, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751864</a>]" pmid="8751864">Barrat et al. (1996)</a> mapped the CHS locus by linkage analysis to a 5-cM interval on chromosome 1q42.1-q42.2. The highest lod score (5.38 at theta = 0) was obtained with the marker D1S235. They used haplotype analysis to define D1S2680 as the telomeric flanking marker and D1S163 as the centromeric flanking marker. <a href="#3" class="mim-tip-reference" title="Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G. <strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong> Am. J. Hum. Genet. 59: 625-632, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751864</a>]" pmid="8751864">Barrat et al. (1996)</a> identified 3 YAC clones which covered the entire region in a contig. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8751864+1672300" 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="#12" class="mim-tip-reference" title="Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. <strong>Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.</strong> Anim. Genet. 31: 87-90, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10782205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10782205</a>] [<a href="https://doi.org/10.1046/j.1365-2052.2000.00607.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10782205">Kunieda et al. (2000)</a> showed that the bovine LYST gene is on chromosome 28 using a bovine/murine somatic cell hybrid panel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10782205" 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="#1" class="mim-tip-reference" title="Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F. <strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong> Hum. Molec. Genet. 6: 1091-1098, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215680">Barbosa et al. (1997)</a> identified novel mutations within the region of the coding domain common to both LYST isoforms in 3 CHS patients: C-to-T transitions that generated stop codons (R50X; <a href="#0006">606897.0006</a> and Q1029X; <a href="#0007">606897.0007</a>) were found in 2 patients, and a novel frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding domain) was found in a third. Northern blots of lymphoblastoid mRNA from CHS patients revealed loss of the largest transcript (approximately 13.5 kb) in 2 of 7 CHS patients, while the small mRNA was undiminished in abundance. These results suggested that the small isoform alone cannot complement Chediak-Higashi syndrome. All beige and CHS1 mutations that had been identified were predicted to result in either truncated or absent proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215680" 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="Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A. <strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong> Hum. Molec. Genet. 6: 1087-1089, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215679</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215679">Karim et al. (1997)</a> reported 2 homozygous LYST mutations. One of these, a frameshift at codon 3197 (<a href="#0005">606897.0005</a>), supported their assertion that the functional LYST protein is a predicted 3,801-amino acid polypeptide encoded by a 13.5-kb mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215679" 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="#15" class="mim-tip-reference" title="Runkel, F., Bussow, H., Seburn, K. L., Cox, G. A., Ward, D. M., Kaplan, J., Franz, T. <strong>Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.</strong> Mammalian Genome 17: 203-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518687</a>] [<a href="https://doi.org/10.1007/s00335-005-0015-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518687">Runkel et al. (2006)</a> reported the mouse grey mutation, which was generated in an N-ethyl-N-nitrosourea mutation screen. Affected mice segregated a seizure phenotype and grey coat color. Melanosomes of melanocytes associated with hair follicles, the choroid layer of the eye, and neural tube-derived pigment epithelium of the retina were larger and irregularly shaped in affected mice compared with wildtype controls. Secretory vesicles in dermal mast cells of mutant skin were also enlarged. <a href="#15" class="mim-tip-reference" title="Runkel, F., Bussow, H., Seburn, K. L., Cox, G. A., Ward, D. M., Kaplan, J., Franz, T. <strong>Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.</strong> Mammalian Genome 17: 203-210, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518687</a>] [<a href="https://doi.org/10.1007/s00335-005-0015-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16518687">Runkel et al. (2006)</a> found that the grey phenotype was caused by a point mutation in the splice donor site of exon 25 in the Lyst gene, leading to a missense mutation and the loss of 77 amino acids encoded by exon 25. The C-terminal end of the protein was intact. Western blot analysis showed that the grey mutation caused instability of the Lyst protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518687" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338644 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338644;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338652 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338652;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80338652?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an adult male with late-onset Chediak-Higashi syndrome (<a href="/entry/214500">214500</a>), <a href="#13" class="mim-tip-reference" title="Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. <strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong> Nature Genet. 14: 307-311, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>] [<a href="https://doi.org/10.1038/ng1196-307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896560">Nagle et al. (1996)</a> found homozygosity for a C-to-T transition in codon 1103, CGA to TGA, resulting in a nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896560" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338642 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338642;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80338642?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004014 OR RCV000055720" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004014, RCV000055720" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004014...</a>
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<p>In a 1-year-old girl with typical childhood CHS (<a href="/entry/214500">214500</a>) manifested by 'partial' oculocutaneous albinism, photophobia, and cytoplasmic inclusions in her white blood cells, <a href="#13" class="mim-tip-reference" title="Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. <strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong> Nature Genet. 14: 307-311, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>] [<a href="https://doi.org/10.1038/ng1196-307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896560">Nagle et al. (1996)</a> found a frameshift mutation, a single-base duplication in codon 40, GCA to GGCA. The same mutation had previously been identified by <a href="#2" class="mim-tip-reference" title="Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., Lovett, M., Kingsmore, S. F. <strong>Identification of the homologous beige and Chediak-Higashi syndrome genes.</strong> Nature 382: 262-265, 1996. Note: Erratum: Nature 385: 97 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8717042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8717042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8717042[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/382262a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8717042">Barbosa et al. (1996)</a>. <a href="#13" class="mim-tip-reference" title="Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J. <strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong> Nature Genet. 14: 307-311, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>] [<a href="https://doi.org/10.1038/ng1196-307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896560">Nagle et al. (1996)</a> had not yet identified the second mutation in this patient who was presumably a compound heterozygote. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8896560+8717042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338646 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338646;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80338646?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004015 OR RCV000055724" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004015, RCV000055724" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004015...</a>
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<p>In an offspring of first-cousin parents, the proband in 1 of the families used by <a href="#6" class="mim-tip-reference" title="Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A. <strong>Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).</strong> Am. J. Hum. Genet. 59: 620-624, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751863</a>]" pmid="8751863">Fukai et al. (1996)</a> for mapping the gene, <a href="#9" class="mim-tip-reference" title="Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A. <strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong> Hum. Molec. Genet. 6: 1087-1089, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215679</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215679">Karim et al. (1997)</a> found homozygosity by descent for a 1-bp insertion (adenine) at codons lys633/lys634 (in a cluster of 6 adenine residues). The insertion resulted in a frameshift and premature translational termination at codon 638. The parents were heterozygous for the mutation. The patient was a Kuwaiti Bedouin boy with typical severe childhood CHS (<a href="/entry/214500">214500</a>), with silvery hair and oculocutaneous albinism, recurrent pyogenic infections, cervical lymphadenopathy, hepatosplenomegaly, neutropenia, mild thrombocytopenia, and low serum IgG. Typical cytoplasmic giant granules were seen in peripheral blood leukocytes, and a skin biopsy showed large irregular melanin granules in the melanocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9215679+8751863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338667 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338667;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004016 OR RCV000055745" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004016, RCV000055745" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004016...</a>
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<p><a href="#9" class="mim-tip-reference" title="Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A. <strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong> Hum. Molec. Genet. 6: 1087-1089, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215679</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215679">Karim et al. (1997)</a> found a frameshift mutation in the LYST gene in a Turkish boy with typical severe childhood CHS (<a href="/entry/214500">214500</a>). His parents were first cousins. He was homozygous for a single base deletion (adenine) within codon tyr3197 (TAT), resulting in a frameshift and translational termination at codon 3258. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338643;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80338643?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004017 OR RCV000055722" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004017, RCV000055722" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004017...</a>
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<p>In a patient with CHS (<a href="/entry/214500">214500</a>) who was a compound heterozygote (patient 373), <a href="#1" class="mim-tip-reference" title="Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F. <strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong> Hum. Molec. Genet. 6: 1091-1098, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215680">Barbosa et al. (1997)</a> found a C-to-T substitution at nucleotide 148 of the coding domain of the LYST gene. The substitution created a stop codon at amino acid 50 (R50X). The mutation occurred within a CpG dinucleotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338651;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004018 OR RCV000055729 OR RCV005003332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004018, RCV000055729, RCV005003332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004018...</a>
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<p>In a CHS (<a href="/entry/214500">214500</a>) patient, <a href="#1" class="mim-tip-reference" title="Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F. <strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong> Hum. Molec. Genet. 6: 1091-1098, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215680">Barbosa et al. (1997)</a> found homozygosity for a C-to-T substitution at nucleotide 3085 of the coding domain that created a stop codon at amino acid 1029 (Q1029X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80338649 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338649;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80338649?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004019 OR RCV000055727" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004019, RCV000055727" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004019...</a>
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<p>In a 6-year-old male with Chediak-Higashi syndrome (<a href="/entry/214500">214500</a>), in whom maternal uniparental isodisomy was found, <a href="#4" class="mim-tip-reference" title="Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G. <strong>Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.</strong> Europ. J. Hum. Genet. 7: 633-637, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482950</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482950">Dufourcq-Lagelouse et al. (1999)</a> used a protein truncated test to analyze the LYST gene and identify in the proband a shorter protein than the one observed in controls in an in vitro translation assay of a PCR fragment. Direct sequencing in this fragment revealed a homozygous T deletion between nucleotides 2620-2623, leading to a termination codon at amino acid position 898. The mother was found to be heterozygous for this mutation, but no mutation was detected in the father's DNA. The diagnosis of CHS was made in this patient at the age of 5.5 years when he developed features characteristic of an accelerated phase of the disease. These included fever, edema, hepatosplenomegaly, lymphadenopathy, pancytopenia, coagulation disorder, and infiltration of most organs by lymphocytes and histiocytes. In addition, the patient presented with partial oculocutaneous albinism, and giant granulations were detected in his leukocytes. Postnatal physical and mental development had been totally normal. The child died at 6 years of age from veino-occlusive disease following an attempt at bone marrow transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CHEDIAK-HIGASHI SYNDROME, ADULT TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80338657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338657;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80338657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80338657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004020 OR RCV000055735" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004020, RCV000055735" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004020...</a>
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<p>In a Japanese patient from consanguineous parents and the adult type of CHS (<a href="/entry/214500">214500</a>), <a href="#10" class="mim-tip-reference" title="Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others. <strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong> Am. J. Med. Genet. 108: 16-22, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857544</a>]" pmid="11857544">Karim et al. (2002)</a> found homozygosity for a 4688G-A transition in the LYST gene, resulting in an arg1563-to-his (R1563H) missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857544" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs28942077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28942077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs28942077?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28942077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28942077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004021 OR RCV000055738" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004021, RCV000055738" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004021...</a>
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<p>In a Japanese patient with consanguineous parents and the adult type of CHS (<a href="/entry/214500">214500</a>), <a href="#10" class="mim-tip-reference" title="Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others. <strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong> Am. J. Med. Genet. 108: 16-22, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857544</a>]" pmid="11857544">Karim et al. (2002)</a> found homozygosity for a 5996T-A transversion in the LYST gene, resulting in a val1999-to-asp (V1999D) missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F.
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<strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong>
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Hum. Molec. Genet. 6: 1091-1098, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215680</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9215680[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=9215680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.7.1091" target="_blank">Full Text</a>]
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Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., Lovett, M., Kingsmore, S. F.
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<strong>Identification of the homologous beige and Chediak-Higashi syndrome genes.</strong>
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Nature 382: 262-265, 1996. Note: Erratum: Nature 385: 97 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8717042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8717042</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8717042[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=8717042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/382262a0" target="_blank">Full Text</a>]
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Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G.
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<strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong>
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Am. J. Hum. Genet. 59: 625-632, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G.
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<strong>Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.</strong>
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Europ. J. Hum. Genet. 7: 633-637, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200355" target="_blank">Full Text</a>]
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Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S.
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<strong>Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.</strong>
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J. Cell Biol. 141: 1121-1134, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9606205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9606205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9606205[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=9606205" 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/10.1083/jcb.141.5.1121" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Fukai1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A.
|
|
<strong>Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).</strong>
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Am. J. Hum. Genet. 59: 620-624, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8751863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8751863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8751863" 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="7" class="mim-anchor"></a>
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<a id="Jackson1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Jackson, I. J.
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|
<strong>Homologous pigmentation mutations in human, mouse and other model organisms.</strong>
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|
Hum. Molec. Genet. 6: 1613-1624, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9300652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9300652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9300652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.10.1613" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Jenkins1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jenkins, N. A., Justice, M. J., Gilbert, D. J., Chu, M.-L., Copeland, N. G.
|
|
<strong>Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.</strong>
|
|
Genomics 9: 401-403, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1672300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90275-j" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Karim1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A.
|
|
<strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong>
|
|
Hum. Molec. Genet. 6: 1087-1089, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.7.1087" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Karim2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others.
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<strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong>
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Am. J. Med. Genet. 108: 16-22, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11857544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11857544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11857544" 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="11" class="mim-anchor"></a>
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<a id="Koberlin2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koberlin, M. S., Snijder, B., Heinz, L. X., Baumann, C. L., Fauster, A., Vladimer, G. I., Gavin, A.-C., Superti-Furga, G.
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<strong>A conserved circular network of coregulated lipids modulates innate immune responses.</strong>
|
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Cell 162: 170-183, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26095250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26095250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26095250[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=26095250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2015.05.051" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Kunieda2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H.
|
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<strong>Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.</strong>
|
|
Anim. Genet. 31: 87-90, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10782205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10782205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10782205" 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/10.1046/j.1365-2052.2000.00607.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Nagle1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J.
|
|
<strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong>
|
|
Nature Genet. 14: 307-311, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1196-307" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Perou1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., Kaplan, J.
|
|
<strong>Identification of the murine beige gene by YAC complementation and positional cloning.</strong>
|
|
Nature Genet. 13: 303-308, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0796-303" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Runkel2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Runkel, F., Bussow, H., Seburn, K. L., Cox, G. A., Ward, D. M., Kaplan, J., Franz, T.
|
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<strong>Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.</strong>
|
|
Mammalian Genome 17: 203-210, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16518687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16518687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16518687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00335-005-0015-1" target="_blank">Full Text</a>]
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</p>
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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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<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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Paul J. Converse - updated : 02/05/2016
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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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Patricia A. Hartz - updated : 7/18/2006
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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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Cassandra L. Kniffin : 5/1/2002
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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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mgross : 02/05/2016
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</span>
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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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terry : 6/7/2012<br>wwang : 12/1/2010<br>mgross : 7/19/2006<br>terry : 7/18/2006<br>carol : 5/8/2002<br>ckniffin : 5/8/2002<br>ckniffin : 5/8/2002
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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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> 606897
|
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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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|
LYSOSOMAL TRAFFICKING REGULATOR; LYST
|
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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">
|
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CHS1 GENE; CHS1
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: LYST</em></strong>
|
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</span>
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</p>
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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>
|
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<em>
|
|
Cytogenetic location: 1q42.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:235,661,031-235,883,713 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
1q42.3
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Chediak-Higashi syndrome
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
214500
|
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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>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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|
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</tbody>
|
|
</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
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|
</span>
|
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</h4>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</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>Studies of the Chediak-Higashi syndrome (CHS; 214500) led to identification and characterization of the LYST gene. In 'beige' mice, the murine equivalent of Chediak-Higashi syndrome, Perou et al. (1996) succeeded in identifying the 'beige' gene by in vitro complementation and positional cloning, and confirmed its identification by defining mutations in 2 independent mutant alleles. The sequence of the 'beige' gene transcript showed strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the gene that is mutant in Chediak-Higashi syndrome. The predicted 2,186-amino acid polypeptide shows significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae (e.g., CDC4), Caenorhabditis elegans, and humans (e.g., CDC4L). </p><p>Although Perou et al. (1996) and Barbosa et al. (1996) reported identification of the 'beige' gene, the 2 cDNAs were quite different. Nagle et al. (1996) described the sequence of a human cDNA homologous to mouse 'beige,' identified pathologic mutations in patients with Chediak-Higashi syndrome, and clarified the discrepancies of the previous reports of sequence. Analysis of the CHS1 polypeptide demonstrated that its modular architecture is similar to that of the yeast vacuolar sorting protein VPS15. Nagle et al. (1996) screened human cDNA libraries with mouse 'beige' probes to yield the human 'beige' cDNA homolog, and found 87.9% amino acid identity between the 2 sequences. The predicted human protein comprises 3,801 amino acids, with a molecular mass of approximately 43 kD. Barbosa et al. (1997) reported the sequences of 2 major mRNA isoforms of the CHS1 gene in human and mouse. These isoforms differ both in size and in sequence at the 3-prime end of their coding domains, with a small isoform (approximately 5.8 kb) arising from incomplete splicing and reading through an intron. These mRNAs also differ in tissue distribution of transcription and in predicted biologic properties. </p><p>Kunieda et al. (2000) cloned the bovine LYST gene and found 90.4% amino acid sequence identity with the human sequence and 83.2% identity with the mouse sequence. </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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<span class="mim-text-font">
|
|
<p>Jackson (1997) reviewed homologous pigmentation mutations in human, mouse, and other model organisms. He tabulated the available data on all pigmentation genes cloned from mouse or human, and focused on 3 particular systems. One family of genes, including LYST and HPS (203300), shows the relationship between melanosomes and lysosomes. The G protein-coupled receptor, endothelin receptor-B (EDNRB; 131244) and its ligand, endothelin-3 (EDN3; 131242) are required for the development of both melanocytes and enteric neurons; mutations in either result in the combination of megacolon and pigmentary anomaly (spotting). The melanocortin-1 receptor (MC1R; 155555) is expressed only in melanocytes, but mutations that cause overexpression of agouti protein (ASIP; 600201), an antagonist of the receptor, result in obesity in transgenic mice, thus highlighting a role of melanocortins in weight homeostasis. </p><p>In cells from patients with the Chediak-Higashi syndrome, Faigle et al. (1998) found that peptide loading onto major histocompatibility complex class II molecules and antigen presentation were strongly delayed. Results of other studies suggested that the product of the CHS1 gene is required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. </p><p>By combining genetic perturbation of sphingolipid metabolism with quantification of TLR (see 601194) signaling steps and mass spectrometry-based lipidomics in mouse cells, Koberlin et al. (2015) uncovered a circular network of coregulated sphingolipids and glycerophospholipids. Quantitative lipidomics on fibroblasts from patients with mutations in GBA (606463), GALC (606890), ASAH1 (613468), or LYST revealed conservation of the circular organization of lipid coregulation across species, cell types, and genetic perturbations. The functional annotation accurately predicted TLR-mediated inflammatory responses, in terms of changes in lipid abundance and lipid species, in patient cells. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>Karim et al. (2002) found that the LYST gene consists of 55 exons, with 2 alternative, mutually exclusive 5-prime untranslated regions, whose sequences appear to be encoded by a complex pattern of alternative promoters and alternative RNA splicing. </p>
|
|
</span>
|
|
<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>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Because of the relation of the LYST gene to Chediak-Higashi syndrome, linkage studies of the disorder led to the mapping of the gene. Jenkins et al. (1991) predicted that the CHS gene may reside in distal 1q because in the mouse the homologous condition to Chediak-Higashi syndrome shows linkage to the nidogen gene (131390) which is located on human 1q. Barrat et al. (1996) mapped the CHS locus by linkage analysis to a 5-cM interval on chromosome 1q42.1-q42.2. The highest lod score (5.38 at theta = 0) was obtained with the marker D1S235. They used haplotype analysis to define D1S2680 as the telomeric flanking marker and D1S163 as the centromeric flanking marker. Barrat et al. (1996) identified 3 YAC clones which covered the entire region in a contig. </p><p>Kunieda et al. (2000) showed that the bovine LYST gene is on chromosome 28 using a bovine/murine somatic cell hybrid panel. </p>
|
|
</span>
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<div>
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<br />
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Barbosa et al. (1997) identified novel mutations within the region of the coding domain common to both LYST isoforms in 3 CHS patients: C-to-T transitions that generated stop codons (R50X; 606897.0006 and Q1029X; 606897.0007) were found in 2 patients, and a novel frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding domain) was found in a third. Northern blots of lymphoblastoid mRNA from CHS patients revealed loss of the largest transcript (approximately 13.5 kb) in 2 of 7 CHS patients, while the small mRNA was undiminished in abundance. These results suggested that the small isoform alone cannot complement Chediak-Higashi syndrome. All beige and CHS1 mutations that had been identified were predicted to result in either truncated or absent proteins. </p><p>Karim et al. (1997) reported 2 homozygous LYST mutations. One of these, a frameshift at codon 3197 (606897.0005), supported their assertion that the functional LYST protein is a predicted 3,801-amino acid polypeptide encoded by a 13.5-kb mRNA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Runkel et al. (2006) reported the mouse grey mutation, which was generated in an N-ethyl-N-nitrosourea mutation screen. Affected mice segregated a seizure phenotype and grey coat color. Melanosomes of melanocytes associated with hair follicles, the choroid layer of the eye, and neural tube-derived pigment epithelium of the retina were larger and irregularly shaped in affected mice compared with wildtype controls. Secretory vesicles in dermal mast cells of mutant skin were also enlarged. Runkel et al. (2006) found that the grey phenotype was caused by a point mutation in the splice donor site of exon 25 in the Lyst gene, leading to a missense mutation and the loss of 77 amino acids encoded by exon 25. The C-terminal end of the protein was intact. Western blot analysis showed that the grey mutation caused instability of the Lyst protein. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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</div>
|
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, 1-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338644,
|
|
|
|
|
|
|
|
ClinVar: RCV000004012, RCV000055721
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Nagle et al. (1996) identified homozygosity for a single-base deletion within codon 489 of the LYST gene in a boy with the typical childhood form of Chediak-Higashi syndrome (214500). The deletion resulted in a frameshift and premature translational termination at codon 566. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CHEDIAK-HIGASHI SYNDROME, ADULT TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, ARG1103TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338652,
|
|
|
|
|
|
gnomAD: rs80338652,
|
|
|
|
|
|
ClinVar: RCV000004013, RCV000055730, RCV000482098
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an adult male with late-onset Chediak-Higashi syndrome (214500), Nagle et al. (1996) found homozygosity for a C-to-T transition in codon 1103, CGA to TGA, resulting in a nonsense mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, 1-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338642,
|
|
|
|
|
|
gnomAD: rs80338642,
|
|
|
|
|
|
ClinVar: RCV000004014, RCV000055720
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 1-year-old girl with typical childhood CHS (214500) manifested by 'partial' oculocutaneous albinism, photophobia, and cytoplasmic inclusions in her white blood cells, Nagle et al. (1996) found a frameshift mutation, a single-base duplication in codon 40, GCA to GGCA. The same mutation had previously been identified by Barbosa et al. (1996). Nagle et al. (1996) had not yet identified the second mutation in this patient who was presumably a compound heterozygote. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, 1-BP INS, FS638TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338646,
|
|
|
|
|
|
gnomAD: rs80338646,
|
|
|
|
|
|
ClinVar: RCV000004015, RCV000055724
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an offspring of first-cousin parents, the proband in 1 of the families used by Fukai et al. (1996) for mapping the gene, Karim et al. (1997) found homozygosity by descent for a 1-bp insertion (adenine) at codons lys633/lys634 (in a cluster of 6 adenine residues). The insertion resulted in a frameshift and premature translational termination at codon 638. The parents were heterozygous for the mutation. The patient was a Kuwaiti Bedouin boy with typical severe childhood CHS (214500), with silvery hair and oculocutaneous albinism, recurrent pyogenic infections, cervical lymphadenopathy, hepatosplenomegaly, neutropenia, mild thrombocytopenia, and low serum IgG. Typical cytoplasmic giant granules were seen in peripheral blood leukocytes, and a skin biopsy showed large irregular melanin granules in the melanocytes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, 1-BP DEL, FS3258TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338667,
|
|
|
|
|
|
|
|
ClinVar: RCV000004016, RCV000055745
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Karim et al. (1997) found a frameshift mutation in the LYST gene in a Turkish boy with typical severe childhood CHS (214500). His parents were first cousins. He was homozygous for a single base deletion (adenine) within codon tyr3197 (TAT), resulting in a frameshift and translational termination at codon 3258. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, ARG50TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338643,
|
|
|
|
|
|
gnomAD: rs80338643,
|
|
|
|
|
|
ClinVar: RCV000004017, RCV000055722
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with CHS (214500) who was a compound heterozygote (patient 373), Barbosa et al. (1997) found a C-to-T substitution at nucleotide 148 of the coding domain of the LYST gene. The substitution created a stop codon at amino acid 50 (R50X). The mutation occurred within a CpG dinucleotide. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, GLN1029TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338651,
|
|
|
|
|
|
|
|
ClinVar: RCV000004018, RCV000055729, RCV005003332
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a CHS (214500) patient, Barbosa et al. (1997) found homozygosity for a C-to-T substitution at nucleotide 3085 of the coding domain that created a stop codon at amino acid 1029 (Q1029X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LYST, 1-BP DEL, 2620T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338649,
|
|
|
|
|
|
gnomAD: rs80338649,
|
|
|
|
|
|
ClinVar: RCV000004019, RCV000055727
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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<p>In a 6-year-old male with Chediak-Higashi syndrome (214500), in whom maternal uniparental isodisomy was found, Dufourcq-Lagelouse et al. (1999) used a protein truncated test to analyze the LYST gene and identify in the proband a shorter protein than the one observed in controls in an in vitro translation assay of a PCR fragment. Direct sequencing in this fragment revealed a homozygous T deletion between nucleotides 2620-2623, leading to a termination codon at amino acid position 898. The mother was found to be heterozygous for this mutation, but no mutation was detected in the father's DNA. The diagnosis of CHS was made in this patient at the age of 5.5 years when he developed features characteristic of an accelerated phase of the disease. These included fever, edema, hepatosplenomegaly, lymphadenopathy, pancytopenia, coagulation disorder, and infiltration of most organs by lymphocytes and histiocytes. In addition, the patient presented with partial oculocutaneous albinism, and giant granulations were detected in his leukocytes. Postnatal physical and mental development had been totally normal. The child died at 6 years of age from veino-occlusive disease following an attempt at bone marrow transplantation. </p>
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<span class="mim-font">
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<strong>.0009 CHEDIAK-HIGASHI SYNDROME, ADULT TYPE</strong>
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LYST, ARG1563HIS
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<br />
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SNP: rs80338657,
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ClinVar: RCV000004020, RCV000055735
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<p>In a Japanese patient from consanguineous parents and the adult type of CHS (214500), Karim et al. (2002) found homozygosity for a 4688G-A transition in the LYST gene, resulting in an arg1563-to-his (R1563H) missense mutation. </p>
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<span class="mim-font">
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<strong>.0010 CHEDIAK-HIGASHI SYNDROME, ADULT TYPE</strong>
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LYST, VAL1999ASP
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SNP: rs28942077,
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gnomAD: rs28942077,
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ClinVar: RCV000004021, RCV000055738
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<p>In a Japanese patient with consanguineous parents and the adult type of CHS (214500), Karim et al. (2002) found homozygosity for a 5996T-A transversion in the LYST gene, resulting in a val1999-to-asp (V1999D) missense mutation. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barbosa, M. D. F. S., Barrat, F. J., Tchernev, V. T., Nguyen, Q. A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M. R., Brandt, S. J., de Saint Basile, G., Kingsmore S. F.
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<strong>Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.</strong>
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Hum. Molec. Genet. 6: 1091-1098, 1997.
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[PubMed: 9215680]
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[Full Text: https://doi.org/10.1093/hmg/6.7.1091]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barbosa, M. D. F. S., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. E., Lovett, M., Kingsmore, S. F.
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<strong>Identification of the homologous beige and Chediak-Higashi syndrome genes.</strong>
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Nature 382: 262-265, 1996. Note: Erratum: Nature 385: 97 only, 1997.
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[PubMed: 8717042]
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[Full Text: https://doi.org/10.1038/382262a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barrat, F. J., Auloge, L., Pastural, E., Dufourcq Lagelouse, R., Vilmer, E., Cant, A. J., Weissenbach, J., Le Paslier, D., Fischer, A., de Saint Basile, G.
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<strong>Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.</strong>
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Am. J. Hum. Genet. 59: 625-632, 1996.
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[PubMed: 8751864]
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<li>
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<p class="mim-text-font">
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Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G., Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G.
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<strong>Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.</strong>
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Europ. J. Hum. Genet. 7: 633-637, 1999.
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[PubMed: 10482950]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200355]
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<p class="mim-text-font">
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Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S.
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<strong>Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.</strong>
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J. Cell Biol. 141: 1121-1134, 1998.
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[PubMed: 9606205]
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[Full Text: https://doi.org/10.1083/jcb.141.5.1121]
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<p class="mim-text-font">
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Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Burger, J., Spritz, R. A.
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<strong>Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).</strong>
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Am. J. Hum. Genet. 59: 620-624, 1996.
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[PubMed: 8751863]
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<p class="mim-text-font">
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Jackson, I. J.
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<strong>Homologous pigmentation mutations in human, mouse and other model organisms.</strong>
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Hum. Molec. Genet. 6: 1613-1624, 1997.
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[PubMed: 9300652]
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[Full Text: https://doi.org/10.1093/hmg/6.10.1613]
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</p>
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<li>
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<p class="mim-text-font">
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Jenkins, N. A., Justice, M. J., Gilbert, D. J., Chu, M.-L., Copeland, N. G.
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<strong>Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.</strong>
|
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Genomics 9: 401-403, 1991.
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[PubMed: 1672300]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90275-j]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J., Moore, K. J., Spritz, R. A.
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<strong>Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.</strong>
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Hum. Molec. Genet. 6: 1087-1089, 1997.
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[PubMed: 9215679]
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[Full Text: https://doi.org/10.1093/hmg/6.7.1087]
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<p class="mim-text-font">
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Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L., Moore, K. J., Barbosa, E., Falik-Borenstein, T., Filipovich, A., Ishida, Y. Kivrikko, S., Klein, C., and 8 others.
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<strong>Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.</strong>
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Am. J. Med. Genet. 108: 16-22, 2002.
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[PubMed: 11857544]
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<p class="mim-text-font">
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Koberlin, M. S., Snijder, B., Heinz, L. X., Baumann, C. L., Fauster, A., Vladimer, G. I., Gavin, A.-C., Superti-Furga, G.
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<strong>A conserved circular network of coregulated lipids modulates innate immune responses.</strong>
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Cell 162: 170-183, 2015.
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[PubMed: 26095250]
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[Full Text: https://doi.org/10.1016/j.cell.2015.05.051]
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Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H.
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<strong>Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.</strong>
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Anim. Genet. 31: 87-90, 2000.
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[PubMed: 10782205]
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[Full Text: https://doi.org/10.1046/j.1365-2052.2000.00607.x]
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<li>
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<p class="mim-text-font">
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Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr., Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A., Moore, K. J.
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<strong>Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.</strong>
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Nature Genet. 14: 307-311, 1996.
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[PubMed: 8896560]
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[Full Text: https://doi.org/10.1038/ng1196-307]
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<p class="mim-text-font">
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Perou, C. M., Moore, K. J., Nagle, D. L., Misumi, D. J., Woolf, E. A., McGrail, S. H., Holmgren, L., Brody, T. H., Dussault, B. J., Jr., Monroe, C. A., Duyk, G. M., Pryor, R. J., Li, L., Justice, M. J., Kaplan, J.
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<strong>Identification of the murine beige gene by YAC complementation and positional cloning.</strong>
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Nature Genet. 13: 303-308, 1996.
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[PubMed: 8673129]
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[Full Text: https://doi.org/10.1038/ng0796-303]
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<li>
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<p class="mim-text-font">
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Runkel, F., Bussow, H., Seburn, K. L., Cox, G. A., Ward, D. M., Kaplan, J., Franz, T.
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<strong>Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.</strong>
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Mammalian Genome 17: 203-210, 2006.
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[PubMed: 16518687]
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[Full Text: https://doi.org/10.1007/s00335-005-0015-1]
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<span class="mim-text-font">
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Paul J. Converse - updated : 02/05/2016<br>Patricia A. Hartz - updated : 7/18/2006
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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