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Entry
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- *300371 - ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300371</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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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="#description">Description</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="#evolution">Evolution</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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/300371">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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</div>
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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=ENSG00000101986;t=ENST00000218104" 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=215" 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=300371" 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=ENSG00000101986;t=ENST00000218104" 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_000033,XM_047441916,XM_047441917" 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_000033" 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=300371" 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=02300&isoform_id=02300_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/ABCD1" 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/38591,1340149,7262393,15930221,19263735,38017152,38017154,38017156,67476960,83722406,119593223,444737793,2217391356,2217391358,2462628678,2462628680" 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/P33897" 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=215" 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=ENSG00000101986;t=ENST00000218104" 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=ABCD1" 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=ABCD1" 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+215" 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/ABCD1" 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:215" 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/215" 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=chrX&hgg_gene=ENST00000218104.6&hgg_start=153724856&hgg_end=153744755&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:61" 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:61" 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/abcd1" 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=300371[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=300371[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/ABCD1/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/ENSG00000101986" 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=ABCD1" 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=ABCD1" 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=ABCD1" 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="http://www.x-ald.nl" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ABCD1&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/PA24396" 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:61" 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://flybase.org/reports/FBgn0039890.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1349215" 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/ABCD1#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:1349215" 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/215/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://www.orthodb.org/?ncbi=215" 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://wormbase.org/db/gene/gene?name=WBGene00004061;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050517-27" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:300371" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:215" 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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<div><a href="https://reactome.org/content/query?q=ABCD1&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1269423000, 363732003, 65389002<br />
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<strong>ICD10CM:</strong> E27.1, E71.52, E71.522, E71.529<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300371
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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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ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ADRENOLEUKODYSTROPHY PROTEIN; ALDP
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ABCD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABCD1</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">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/836?start=-3&limit=10&highlight=836">Xq28</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:153724856-153744755&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'})">X:153,724,856-153,744,755</a> </span>
|
|
</em>
|
|
</strong>
|
|
<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>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/836?start=-3&limit=10&highlight=836">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
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<p>ABCD1 (ALDP) maps to Xq28 and is mutated in the X-linked disorder adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>). ABCD1 is a member of the ATP-binding cassette (ABC) transporter superfamily. The superfamily contains membrane proteins that translocate a wide variety of substrates across extra- and intracellular membranes, including metabolic products, lipids and sterols, and drugs. Overexpression of certain ABC transporters occurs in cancer cell lines and tumors that are multidrug resistant such as ABCB1/MDR1 (<a href="/entry/171050">171050</a>), ABCC1/MRP1 (<a href="/entry/158343">158343</a>), and ABCG2 (<a href="/entry/603756">603756</a>). The family also includes ABCC7/CFTR (<a href="/entry/602421">602421</a>), the gene mutated in the autosomal recessive condition cystic fibrosis (<a href="#9" class="mim-tip-reference" title="Dean, M., Rzhetsky, A., Allikmets, R. <strong>The human ATP-binding cassette (ABC) transporter superfamily.</strong> Genome Res. 11: 1156-1166, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435397</a>] [<a href="https://doi.org/10.1101/gr.184901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435397">Dean et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435397" 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>Using positional cloning, <a href="#37" class="mim-tip-reference" title="Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., Aubourg, P. <strong>Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.</strong> Nature 361: 726-730, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8441467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8441467</a>] [<a href="https://doi.org/10.1038/361726a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8441467">Mosser et al. (1993)</a> identified a gene partially deleted in 6 of 85 unrelated patients with adrenoleukodystrophy. In familial cases, the deletions segregated with the disease. In particular, an identical deletion was detected in 2 brothers with different clinical phenotypes of ALD. Candidate exons, identified by computer analysis of genomic sequences, were used to isolate cDNAs by exon-connection and screening of cDNA libraries. Northern blot data provided by <a href="#37" class="mim-tip-reference" title="Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., Aubourg, P. <strong>Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.</strong> Nature 361: 726-730, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8441467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8441467</a>] [<a href="https://doi.org/10.1038/361726a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8441467">Mosser et al. (1993)</a> showed that some tissues with abundant peroxisomes (liver and kidney) have low levels of ALDP transcript, whereas other tissues with fewer peroxisomes (cardiac and skeletal muscle) have high levels. <a href="#58" class="mim-tip-reference" title="Valle, D., Gartner, J. <strong>Penetrating the peroxisome.</strong> Nature 361: 682-683, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8441459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8441459</a>] [<a href="https://doi.org/10.1038/361682a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8441459">Valle and Gartner (1993)</a> found it appealing, however, to think that ALDP is a peroxisomal membrane transporter directly involved in the import of the peroxisomal enzyme whose activity is defective, lignoceroyl-CoA synthetase (also known as very long chain fatty acid-CoA (VLCFA-CoA) synthetase (<a href="#59" class="mim-tip-reference" title="van den Bosch, H., Schutgens, R. B. H., Wanders, R. J. A., Tager, J. M. <strong>Biochemistry of peroxisomes.</strong> Annu. Rev. Biochem. 61: 157-197, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353950</a>] [<a href="https://doi.org/10.1146/annurev.bi.61.070192.001105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353950">van den Bosch et al., 1992</a>)). <a href="#3" class="mim-tip-reference" title="Aubourg, P., Mosser, J., Douar, A. M., Sarde, C. O., Lopez, J., Mandel, J. L. <strong>Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.</strong> Biochimie 75: 293-302, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507690</a>] [<a href="https://doi.org/10.1016/0300-9084(93)90089-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8507690">Aubourg et al. (1993)</a> provided a review of the molecular information, including evidence that the 'ALD protein' is a peroxisomal transporter protein involved in the import or anchoring of VLCFA-CoA synthetase. The gene has an open reading frame of 2,235 bases which encodes a 745-amino acid protein with 38.5% amino acid identity and 78.9% similarity to the PMP70 protein (ABCD3; <a href="/entry/170995">170995</a>). It was found to have no homology to the rat gene for long chain acyl-CoA synthetase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8441459+1353950+8507690+8441467" 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="#51" class="mim-tip-reference" title="Sarde, C.-O., Thomas, J., Sadoulet, H., Garnier, J.-M., Mandel, J.-L. <strong>cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.</strong> Mammalian Genome 5: 810-813, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894167</a>] [<a href="https://doi.org/10.1007/BF00292021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894167">Sarde et al. (1994)</a> reported the sequence of the mouse ALD cDNA and data suggesting that homologous sequences are present in a wide range of species, including S. cerevisiae and C. elegans. <a href="#55" class="mim-tip-reference" title="Shani, N., Watkins, P. A., Valle, D. <strong>PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.</strong> Proc. Nat. Acad. Sci. 92: 6012-6016, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7597071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7597071</a>] [<a href="https://doi.org/10.1073/pnas.92.13.6012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7597071">Shani et al. (1995)</a> cloned and characterized PXA1, a gene of Saccharomyces cerevisiae, which, because of similarities in sequence and function, they proposed to be an ortholog of the ALD gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7597071+7894167" 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="#13" class="mim-tip-reference" title="Eichler, E. E., Budarf, M. L., Rocchi, M., Deaven, L. L., Doggett, N. A., Baldini, A., Nelson, D. L., Mohrenweiser, H. W. <strong>Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.</strong> Hum. Molec. Genet. 6: 991-1002, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215666</a>] [<a href="https://doi.org/10.1093/hmg/6.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215666">Eichler et al. (1997)</a> identified a 9.7-kb segment encompassing exons 7 to 10 of the ALD gene that has duplicated to specific locations near the pericentromeric regions of chromosomes 2p11, 10p11, 16p11, and 22q11. Comparative sequence analysis reveals 92 to 96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution, i.e., 5 to 10 million years ago. Analysis of sequences flanking the duplication region identified an unusual GCTTTTTGC repeat that may be a sequence-specific integration site for the process of pericentromeric-directed transposition. The breakpoint sequence and phylogenetic analysis predicted a 2-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. <a href="#13" class="mim-tip-reference" title="Eichler, E. E., Budarf, M. L., Rocchi, M., Deaven, L. L., Doggett, N. A., Baldini, A., Nelson, D. L., Mohrenweiser, H. W. <strong>Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.</strong> Hum. Molec. Genet. 6: 991-1002, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215666</a>] [<a href="https://doi.org/10.1093/hmg/6.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215666">Eichler et al. (1997)</a> stated that knowledge of this duplicated segment should facilitate effective mutation detection among ALD patients and provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for nonhomologous interchromosomal exchange. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215666" 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="#50" class="mim-tip-reference" title="Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.-L. <strong>Genomic organization of the adrenoleukodystrophy gene.</strong> Genomics 22: 13-20, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959759</a>] [<a href="https://doi.org/10.1006/geno.1994.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959759">Sarde et al. (1994)</a> reported that the ALD gene extends over 21 kb and contains 10 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959759" 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="#25" class="mim-tip-reference" title="Kennedy, M. A., Rowland, S. A., Miller, A. L., Morris, C. M., Neville, L. A., Dodd, A., Fifield, W. J., Love, D. R. <strong>Structure and location of the murine adrenoleukodystrophy gene.</strong> Genomics 32: 395-400, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8838803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8838803</a>] [<a href="https://doi.org/10.1006/geno.1996.0134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8838803">Kennedy et al. (1996)</a> showed that the mouse Ald gene contains 10 exons and spans about 22 kb in band B of the X chromosome, 47 cM from the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8838803" 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>ABCD1 expresses a half transporter which is located in the peroxisome. When mutated, ABCD1 results in the condition adrenoleukodystrophy with an elevation in very long chain fatty acids. ABCD1 is 1 of 4 related peroxisomal transporters that are found in the human genome, the others being ABCD2 (<a href="/entry/601081">601081</a>), ABCD3 (<a href="/entry/170995">170995</a>), and ABCD4 (<a href="/entry/603214">603214</a>). These genes are highly conserved in evolution, and 2 homologous genes are present in the yeast genome, PXA1 and PXA2. The PXA2 gene has been demonstrated to transport long chain fatty acids (<a href="#54" class="mim-tip-reference" title="Shani, N., Valle, D. <strong>A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.</strong> Proc. Nat. Acad. Sci. 93: 11901-11906, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8876235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8876235</a>] [<a href="https://doi.org/10.1073/pnas.93.21.11901" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8876235">Shani and Valle, 1996</a>; <a href="#60" class="mim-tip-reference" title="Verleur, N., Hettema, E. H., Roermund, C. W., Tabak, H. F., Wanders, R. J. <strong>Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system.</strong> Europ. J. Biochem. 249: 657-661, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9395310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9395310</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1997.00657.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9395310">Verleur et al., 1997</a>). A defective pxa1 gene in Arabidopsis thaliana results in defective import of fatty acids into the peroxisome (<a href="#61" class="mim-tip-reference" title="Zolman, B. K., Silva, I. D., Bartel, B. <strong>The Arabidopsis pxa1 mutant is defective in an ATP-binding cassette transporter-like protein required for peroxisomal fatty acid beta-oxidation.</strong> Plant Physiol. 127: 1266-1278, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11706205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11706205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11706205[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="11706205">Zolman et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8876235+9395310+11706205" 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="#26" class="mim-tip-reference" title="Kobayashi, T., Yamada, T., Yasutake, T., Shinnoh, N., Goto, I., Iwaki, T. <strong>Adrenoleukodystrophy gene encodes an 80 kDa membrane protein.</strong> Biochem. Biophys. Res. Commun. 201: 1029-1034, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8002973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8002973</a>] [<a href="https://doi.org/10.1006/bbrc.1994.1805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8002973">Kobayashi et al. (1994)</a> raised an antibody against the synthetic C-terminal peptides deduced from the cDNA of the ALD gene and used it to demonstrate an 80-kD band protein in control fibroblasts that was absent in a patient with ALD, in whom ALD mRNA was undetectable on Southern blot analysis. In an immunocytologic study, staining with the antibody was in a punctate pattern in normal fibroblasts, whereas no punctate staining was seen in cells from the ALD patient. These data were interpreted as indicating that the ALD gene encodes a membrane protein of 80 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8002973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Ho, J. K., Moser, H., Kishimoto, Y., Hamilton, J. A. <strong>Interactions of a very long chain fatty acid with model membranes and serum albumin: implications for the pathogenesis of adrenoleukodystrophy.</strong> J. Clin. Invest. 96: 1455-1463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657817</a>] [<a href="https://doi.org/10.1172/JCI118182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7657817">Ho et al. (1995)</a> predicted that disruptive effects of the accumulation of very long chain saturated fatty acids on cell membrane structure and function may explain the neurologic manifestations of ALD patients. Especially the 26-carbon acid, hexacosanoic acid, is involved. They studied the interaction of radiolabelled hexacosanoic acid with model membranes and bovine serum albumin by NMR spectroscopy to compare properties of the hexacosanoic acid with those of typical dietary fatty acids. Desorption of hexacosanoic acid from membranes was orders of magnitude slower than that of shorter-chain fatty acids and binding to serum albumin was ineffective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657817" 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>Using transient and stable overexpression of human cDNAs encoding the ALD protein and its closest relative, the ALDR (ABCD2; <a href="/entry/601081">601081</a>) protein, <a href="#40" class="mim-tip-reference" title="Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., Berger, J. <strong>Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.</strong> Hum. Molec. Genet. 8: 907-913, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196381</a>] [<a href="https://doi.org/10.1093/hmg/8.5.907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196381">Netik et al. (1999)</a> could restore the impaired peroxisomal beta-oxidation in fibroblasts of ALD patients. The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of the ALDR protein in immortalized ALD cells. Immunofluorescence analysis demonstrated that the functional replacement of ALD protein by ALDR protein was not due to stabilization of the mutated ALD protein itself. Moreover, <a href="#40" class="mim-tip-reference" title="Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., Berger, J. <strong>Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.</strong> Hum. Molec. Genet. 8: 907-913, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196381</a>] [<a href="https://doi.org/10.1093/hmg/8.5.907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196381">Netik et al. (1999)</a> could restore the peroxisomal beta-oxidation defect in the liver of Ald-deficient mice by stimulation of Aldr and Pmp70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate. These results suggested that a correction of the biochemical defect in ALD might be possible by drug-induced overexpression or ectopic expression of the ALDR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10196381" 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 cell cultures and mouse tissue, <a href="#34" class="mim-tip-reference" title="McGuinness, M. C., Lu, J.-F., Zhang, H.-P., Dong, G.-X., Heinzer, A. K., Watkins, P. A., Powers, J., Smith, K. D. <strong>Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.</strong> Molec. Cell. Biol. 23: 744-753, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12509471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12509471</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12509471[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/10.1128/MCB.23.2.744-753.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12509471">McGuinness et al. (2003)</a> showed that the ALDP protein transporter may facilitate an interaction between peroxisomes and mitochondria, the 2 sites of VLCFA beta-oxidation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12509471" 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>Using positional cloning, <a href="#37" class="mim-tip-reference" title="Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., Aubourg, P. <strong>Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.</strong> Nature 361: 726-730, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8441467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8441467</a>] [<a href="https://doi.org/10.1038/361726a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8441467">Mosser et al. (1993)</a> identified a gene on Xq28 that was partially deleted in 6 of 85 unrelated patients with adrenoleukodystrophy. In familial cases, the deletions segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8441467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., Aubourg, P. <strong>Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 2: 1949-1951, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904210</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7904210">Cartier et al. (1993)</a> found abnormalities in the putative ALD gene in 6 patients, including one with a transcript which, although indistinguishable in size from controls, had a missense mutation predicting a glu291-to-lys substitution in a conserved region of the ALD protein; see <a href="#0001">300371.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904210" 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="#38" class="mim-tip-reference" title="Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., Mandel, J. L. <strong>The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.</strong> Hum. Molec. Genet. 3: 265-271, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004093</a>] [<a href="https://doi.org/10.1093/hmg/3.2.265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004093">Mosser et al. (1994)</a> raised monoclonal antibodies against the ALD protein that detected a 75-kD band. This protein was absent in several patients with adrenoleukodystrophy. Immunofluorescence and immunoelectron microscopy showed that the ALDP is associated with the peroxisomal membrane. It may be involved in the import of very long chain fatty acid CoA synthase into the peroxisomal membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004093" 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>To facilitate the detection of mutations in the ALD gene, <a href="#50" class="mim-tip-reference" title="Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.-L. <strong>Genomic organization of the adrenoleukodystrophy gene.</strong> Genomics 22: 13-20, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959759</a>] [<a href="https://doi.org/10.1006/geno.1994.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959759">Sarde et al. (1994)</a> determined the intronic sequences flanking the exons as well as the sequence of the 3-prime untranslated region and of the immediate 5-prime promoter region. Sequences present in distal exons cross-hybridized strongly to additional sequences in the human genome. On a pulsed field map, they positioned the ALD gene between DXS15 and the L1CAM gene (<a href="/entry/308840">308840</a>), about 650 kb upstream from the color pigment genes. Because of the distance separating ALD from the color vision genes, <a href="#50" class="mim-tip-reference" title="Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.-L. <strong>Genomic organization of the adrenoleukodystrophy gene.</strong> Genomics 22: 13-20, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959759</a>] [<a href="https://doi.org/10.1006/geno.1994.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959759">Sarde et al. (1994)</a> suggested that the frequent occurrence of color vision anomalies in patients with adrenomyeloneuropathy (the adult-onset form of ALD) may represent a secondary manifestation (i.e., the consequence of cerebral involvement) of ALD and not a contiguous gene syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959759" 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>To determine whether mutations occur in the ATP-binding domain, termed the nucleotide-binding fold (NBF), of the ALD protein, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> used denaturing gradient gel electrophoresis (DGGE) to analyze exons 6 and 8, which encode this domain, in 50 ALD patients. They identified 4 amino acid substitutions, 3 frameshift mutations leading to a premature termination signal, and 1 splice mutation. These amino acid substitutions occurred at residues highly conserved in other ATP-binding cassette (ABC) proteins. In addition, they reported the first observation of a nonsense mutation in the ALD gene, occurring in exon 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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="#31" class="mim-tip-reference" title="Ligtenberg, M. J. L., Kemp, S., Sarde, C.-O., van Geel, B. M., Kleijer, W. J., Barth, P. G., Mandel, J.-L., van Oost, B. A., Bolhuis, P. A. <strong>Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.</strong> Am. J. Hum. Genet. 56: 44-50, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7825602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7825602</a>]" pmid="7825602">Ligtenberg et al. (1995)</a> performed a systematic analysis of the open reading frame of the ALD gene, using RT-PCR followed by direct sequencing, and demonstrated mutations in all 28 unrelated kindreds analyzed. No entire gene deletions or drastic promoter mutations were detected. In only 1 kindred did the mutation involve multiple exons. The other mutations were small alterations leading to missense (13 of 28) or nonsense mutations, a single amino acid deletion, frameshifts, or splice acceptor-site defects. The gene mutant in ALD encodes an ATP-binding transporter that is located in the peroxisomal membrane. Mutations affecting a single amino acid were concentrated in the region between the third and fourth putative transmembrane domains and in the ATP-binding domain. <a href="#6" class="mim-tip-reference" title="Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stockler, S., Rabl, W., Gartner, J., Zierz, S., Roscher, A. A. <strong>Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.</strong> Am. J. Hum. Genet. 56: 854-861, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717396</a>]" pmid="7717396">Braun et al. (1995)</a> determined the mutations in the ALD gene in patients with different clinical phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7717396+7825602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 of 112 patients with ALD, <a href="#27" class="mim-tip-reference" title="Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., Moser, H., Mandel, J.-L., Smith, K. D. <strong>Mutational analysis of patients with X-linked adrenoleukodystrophy.</strong> Hum. Mutat. 6: 104-115, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581394</a>] [<a href="https://doi.org/10.1002/humu.1380060203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581394">Kok et al. (1995)</a> detected large deletions of the carboxyl-terminal portion of the ALD gene. In 25 of the ALD probands whose ALD genes appeared normal by Southern blot analysis, they found variants on single strand conformation polymorphism (SSCP) analysis in 22; SSCP variants were found in none of 60 X chromosomes from normal individuals. Mutations were detected in all of the ALD probands. The mutations were distributed throughout the gene and did not correlate with phenotype. Approximately half were nonrecurrent missense mutations of which 64% occurred in CpG dinucleotides. There was a small cluster of frameshift mutations in a small region of exon 5, including an identical AG deletion in 7 unrelated probands. The data supported overwhelmingly the supposition that mutations in the putative ALD gene result in the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a screening of patients with adrenoleukodystrophy/adrenomyeloneuropathy from 20 kindreds, <a href="#28" class="mim-tip-reference" title="Krasemann, E. W., Meier, V., Korenke, G. C., Hunneman, D. H., Hanefeld, F. <strong>Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.</strong> Hum. Genet. 97: 194-197, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566952</a>] [<a href="https://doi.org/10.1007/BF02265264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566952">Krasemann et al. (1996)</a> identified 19 mutations: 11 missense and 2 nonsense mutations, 5 deletions, and 1 insertion. Four mutations could be shown to be de novo. No correlation between the type of mutation and the severity of the phenotype could be determined with the exception of the R401Q mutation. <a href="#28" class="mim-tip-reference" title="Krasemann, E. W., Meier, V., Korenke, G. C., Hunneman, D. H., Hanefeld, F. <strong>Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.</strong> Hum. Genet. 97: 194-197, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566952</a>] [<a href="https://doi.org/10.1007/BF02265264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566952">Krasemann et al. (1996)</a> stated that all mutations were detected only once. R617 seemed to be a hotspot of mutations, since they found 2 mutations (R617G and R617C) in addition to the mutations described previously by others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8566952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Lachtermacher, M. B. R., Seuanez, H. N., Moser, A. B., Moser, H. W., Smith, K. D. <strong>Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.</strong> Hum. Mutat. 15: 348-353, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737980</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737980">Lachtermacher et al. (2000)</a> noted that a very small percentage (0.1%) of affected males had plasma C26:0 levels that are borderline normal, and 15% of obligate female carriers have normal results. Effective mutation detection in these families is therefore fundamental to unambiguous determination of genetic status. Of particular concern are female members of kindreds segregating X-ALD mutations, because normal VLCFA levels do not guarantee lack of carrier status. <a href="#29" class="mim-tip-reference" title="Lachtermacher, M. B. R., Seuanez, H. N., Moser, A. B., Moser, H. W., Smith, K. D. <strong>Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.</strong> Hum. Mutat. 15: 348-353, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737980</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737980">Lachtermacher et al. (2000)</a> described a fast method for detection of X-ALD mutations. The method was based on SSCP analysis of nested PCR fragments followed by sequence-determination reactions. Using this method, they found X-ALD mutations in 30 kindreds, including 15 not previously reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737980" 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="Dvorakova, L., Storkanova, G., Unterrainer, G., Hujova, J., Kmoch, S., Zeman, J., Hrebicek, M., Berger, J. <strong>Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.</strong> Hum. Mutat. 18: 52-60, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438993</a>] [<a href="https://doi.org/10.1002/humu.1149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438993">Dvorakova et al. (2001)</a> examined the ABCD1 gene in probands from 11 unrelated Czech and Slovak families with X-linked ALD by the direct sequencing of cDNA or genomic PCR products. In 10 families there were 10 different mutations, 8 of which were novel. They also identified the first polymorphism causing an amino acid exchange in the ABCD1 gene, asn13 to thr. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438993" 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="#57" class="mim-tip-reference" title="Unterrainer, G., Molzer, B., Forss-Petter, S., Berger, J. <strong>Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 9: 2609-2616, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11063720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11063720</a>] [<a href="https://doi.org/10.1093/hmg/9.18.2609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11063720">Unterrainer et al. (2000)</a> showed that restoration of beta-oxidation in X-ALD fibroblasts following transient transfection with normal ALD cDNA is more effective in ALDP-deficient fibroblasts compared with fibroblasts expressing normal amounts of mutated ALDP. Utilizing the HeLa Tet-on system, they constructed a stable HeLa cell line expressing a constant level of endogenous ALDP and doxycycline-inducible levels of mutated ALDP. Although mutated ALDP increased more than 6-fold in a dosage-dependent manner, the total amount of ALDP (mutated and normal) remained approximately even as demonstrated by Western blot and flow cytometric analyses. Increased amounts of mutated ALDP resulted in decreased peroxisomal beta-oxidation and accumulation of very long chain fatty acids. The authors hypothesized that mutated and normal ALDP may compete for integration into a limited number of sites in the peroxisomal membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11063720" 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="#24" class="mim-tip-reference" title="Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., Moser, H. W. <strong>ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.</strong> Hum. Mutat. 18: 499-515, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11748843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11748843</a>] [<a href="https://doi.org/10.1002/humu.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11748843">Kemp et al. (2001)</a> reviewed ABCD1 mutations in X-linked adrenoleukodystrophy. The majority of the mutations are point mutations, but large deletions had been described. No correlation between genotype and phenotype was evident. In 15 to 20% of obligate heterozygotes, results of tests for elevated levels of VLCFA in plasma were false-negative. Therefore, mutation analysis is the only reliable method for identification of heterozygotes. <a href="#24" class="mim-tip-reference" title="Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., Moser, H. W. <strong>ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.</strong> Hum. Mutat. 18: 499-515, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11748843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11748843</a>] [<a href="https://doi.org/10.1002/humu.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11748843">Kemp et al. (2001)</a> reviewed the 406 mutations contained in an online X-linked adrenoleukodystrophy mutation database and reported 47 novel mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11748843" 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="#8" class="mim-tip-reference" title="Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., Raymond, G. V., Smith, K. D., Watkins, P. A., Moser, A. B., Moser, H. W., Steinberg, S. J. <strong>Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.</strong> Am. J. Hum. Genet. 70: 1520-1531, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11992258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11992258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11992258[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/340849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11992258">Corzo et al. (2002)</a> described a contiguous gene microdeletion syndrome involving the ABCD1 and BCAP31 (<a href="/entry/300398">300398</a>) genes, which they called the contiguous ABCD1/DXS1375E deletion syndrome (CADDS; <a href="/entry/300475">300475</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11992258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old Japanese boy with X-linked ALD, <a href="#33" class="mim-tip-reference" title="Matsumoto, T., Miyake, N., Watanabe, Y., Yamanaka, G., Oana, S., Ogiwara, M., Hoshika, A., Sasaki, N., Miyahara, H., Niikawa, N. <strong>X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3.</strong> Am. J. Med. Genet. 138A: 300-302, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152637</a>] [<a href="https://doi.org/10.1002/ajmg.a.30951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16152637">Matsumoto et al. (2005)</a> identified a partial deletion (exons 3 to 10) of the ABCD1 gene with fusion to a neighboring gene, PLXNB3 (<a href="/entry/300214">300214</a>). Sequencing showed that the breakpoints were at nucleotide +1374 in intron 2 of the ABCD1 gene and at nucleotide +915 in intron 2 of the PLXNB3 gene. The mother was confirmed as a carrier of the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152637" 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>Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN), and AMN with cerebral demyelination are the main phenotypic variants of X-linked adrenoleukodystrophy. <a href="#2" class="mim-tip-reference" title="Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P. <strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 14: 1293-1303, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800013</a>] [<a href="https://doi.org/10.1093/hmg/ddi140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800013">Asheuer et al. (2005)</a> studied the expression of the ABCD1, ABCD2, ABCD3, and ABCD4 genes and 2 VLCFA synthetase genes, VLCS (SLC27A2; <a href="/entry/603247">603247</a>) and BG1 (ACSBG1; <a href="/entry/614362">614362</a>), in fibroblasts and brains from normal controls and ALD patients with the 3 main phenotypes, and they studied VLCFA concentrations in normal-appearing white matter from ALD patients with the 3 main phenotypes. The authors showed that ABCD1-truncating mutations were unlikely to cause variation in the ALD phenotype. Accumulation of saturated VLCFA in normal-appearing white matter correlated with ALD phenotype. Expression of ABCD4 and BG1, but not of the ABCD2, ABCD3, and VLCS genes, tended to correlate with the severity of the disease, acting early in the pathogenesis of ALD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15800013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schluter, A., Fourcade, S., Paredes-Fuentes, A. J., Artuch, R., Casasnovas, C., Ruiz, M., Pujol, A. <strong>Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.</strong> Brain 147: 2069-2084, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38763511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38763511</a>] [<a href="https://doi.org/10.1093/brain/awae038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38763511">Launay et al. (2024)</a> observed mitochondrial network abnormalities in fibroblasts from patients with ALD after treatment with C26:0 very long chain fatty acid, which resolved with treatment with the antioxidant N-acetylcysteine. C26:0 treatment also resulted in increased phosphorylation of DRP1 (<a href="/entry/128240">128240</a>) and translocation to the mitochondrial network. Treatment with a DRP1 inhibitor resolved the mitochondrial network abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38763511" 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="Forss-Petter, S., Werner, H., Berger, J., Lassmann, H., Molzer, B., Schwab, M. H., Bernheimer, H., Zimmermann, F., Nave, K.-A. <strong>Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice.</strong> J. Neurosci. Res. 50: 829-843, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9418970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9418970</a>] [<a href="https://doi.org/10.1002/(SICI)1097-4547(19971201)50:5<829::AID-JNR19>3.0.CO;2-W" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9418970">Forss-Petter et al. (1997)</a> generated mice deficient in ALDP by targeted disruption. Motor functions in Aldp-deficient mice developed on schedule, and unexpectedly, adult animals appeared unaffected by neurologic symptoms up to 6 months of age. Biochemical analyses demonstrated impaired beta-oxidation in mutant fibroblasts and abnormal accumulation of very long chain fatty acids in the CNS and kidney. In 6-month-old mutants, adrenal cortex cells displayed a ballooned morphology and needle-like lipid inclusions, also found in testis and ovaries. However, lipid inclusions and demyelinating lesions of the CNS were not a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9418970" 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="#19" class="mim-tip-reference" title="Heinzer, A. K., Watkins, P. A., Lu, J.-F., Kemp, S., Moser, A. B., Li, Y. Y., Mihalik, S., Powers, J. M., Smith, K. D. <strong>A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 12: 1145-1154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12719378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12719378</a>] [<a href="https://doi.org/10.1093/hmg/ddg126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12719378">Heinzer et al. (2003)</a> characterized a very long chain acyl-CoA synthetase (VLCS) knockout mouse that exhibited decreased peroxisomal VLCS activity and VLCFA beta-oxidation but did not accumulate VLCFAs. They generated mice doubly null for Vlcs and Abcd1; the double knockout mice had the biochemical abnormalities observed in the individual knockout mice but did not display a more severe X-linked ALD phenotype. <a href="#19" class="mim-tip-reference" title="Heinzer, A. K., Watkins, P. A., Lu, J.-F., Kemp, S., Moser, A. B., Li, Y. Y., Mihalik, S., Powers, J. M., Smith, K. D. <strong>A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 12: 1145-1154, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12719378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12719378</a>] [<a href="https://doi.org/10.1093/hmg/ddg126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12719378">Heinzer et al. (2003)</a> concluded that VLCFA levels are independent of peroxisomal fatty acid beta-oxidation, that there is no ABCD1/VLCS interaction, and that the common severe forms of X-linked ALD cannot be modeled by decreasing peroxisomal VLCS activity in the X-linked ALD mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12719378" 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 Abcd1-knockout mice, <a href="#49" class="mim-tip-reference" title="Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pampols, T., Giros, M., Mandel, J. L. <strong>Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.</strong> Hum. Molec. Genet. 13: 2997-3006, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489218</a>] [<a href="https://doi.org/10.1093/hmg/ddh323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489218">Pujol et al. (2004)</a> demonstrated that axonal damage was the first pathologic event in this model, followed by myelin degeneration. The phenotype could be modulated through expression levels of Abcd2 (<a href="/entry/601081">601081</a>). Overexpression of Abcd2 in Abcd1-knockout mice prevented both VLCFA accumulation and neurodegenerative features, whereas Abcd1/Abcd2 double mutants exhibited an earlier onset and more severe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489218" 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="#46" class="mim-tip-reference" title="Oezen, I., Rossmanith, W., Forss-Petter, S., Kemp, S., Voigtlander, T., Moser-Thier, K., Wanders, R. J., Bittner, R. E., Berger, J. <strong>Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.</strong> Hum. Molec. Genet. 14: 1127-1137, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772093</a>] [<a href="https://doi.org/10.1093/hmg/ddi125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772093">Oezen et al. (2005)</a> reported normal VLCFA levels in mitochondria of Abcd1-deficient mice. Polarographic analyses of the respiratory chain as well as enzymatic assays of isolated muscle mitochondria revealed no differences between Abcd1-deficient and control mice. Ultrastructural analysis revealed normal size, structure, and localization of mitochondria in muscle of both groups. Mitochondrial enzyme activities in brain homogenates of Abcd1-deficient and wildtype animals also did not differ, and studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts of ALD patients and controls revealed no abnormalities. <a href="#46" class="mim-tip-reference" title="Oezen, I., Rossmanith, W., Forss-Petter, S., Kemp, S., Voigtlander, T., Moser-Thier, K., Wanders, R. J., Bittner, R. E., Berger, J. <strong>Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.</strong> Hum. Molec. Genet. 14: 1127-1137, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772093</a>] [<a href="https://doi.org/10.1093/hmg/ddi125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772093">Oezen et al. (2005)</a> concluded that accumulation of VLCFA per se does not cause mitochondrial abnormalities, and vice versa mitochondrial abnormalities are not responsible for the accumulation of VLCFA in Abcd1-deficient mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772093" 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="#16" class="mim-tip-reference" title="Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., Portero-Otin, M., Pujol, A. <strong>Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.</strong> Hum. Molec. Genet. 17: 1762-1773, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18344354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18344354</a>] [<a href="https://doi.org/10.1093/hmg/ddn085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18344354">Fourcade et al. (2008)</a> found evidence of lipoxidative protein damage in the spinal cord of Abcd1-null mice as early as 3.5 months of age before the onset of neurologic symptoms. At 12 months, Abcd1-null mice had accumulated additional proteins affected by oxidative damage. Abcd1-null mice, spinal cord slices from these mice, and human ALD fibroblasts all showed a defective antioxidant response to VLCFA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18344354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schluter, A., Fourcade, S., Paredes-Fuentes, A. J., Artuch, R., Casasnovas, C., Ruiz, M., Pujol, A. <strong>Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.</strong> Brain 147: 2069-2084, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38763511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38763511</a>] [<a href="https://doi.org/10.1093/brain/awae038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38763511">Launay et al. (2024)</a> identified abnormalities of axonal mitochondria in the corticospinal tracts of Abcd1- mice. In 14-month-old Abcd1- mouse spinal cords, <a href="#30" class="mim-tip-reference" title="Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schluter, A., Fourcade, S., Paredes-Fuentes, A. J., Artuch, R., Casasnovas, C., Ruiz, M., Pujol, A. <strong>Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.</strong> Brain 147: 2069-2084, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38763511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38763511</a>] [<a href="https://doi.org/10.1093/brain/awae038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38763511">Launay et al. (2024)</a> identified donut-shaped mitochondria in presynaptic boutons, indicating mitochondrial stress. Furthermore, in 12-month-old Abcd1- mouse spinal cord neurons, <a href="#30" class="mim-tip-reference" title="Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schluter, A., Fourcade, S., Paredes-Fuentes, A. J., Artuch, R., Casasnovas, C., Ruiz, M., Pujol, A. <strong>Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.</strong> Brain 147: 2069-2084, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38763511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38763511</a>] [<a href="https://doi.org/10.1093/brain/awae038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38763511">Launay et al. (2024)</a> identified increased expression of phosphorylated Drp1, indicating increased mitochondrial fission. Treatment of 8-month-old Abcd1- mice with antioxidants for 4 months resulted in normalized Drp1 expression. <a href="#30" class="mim-tip-reference" title="Launay, N., Lopez-Erauskin, J., Bianchi, P., Guha, S., Parameswaran, J., Coppa, A., Torreni, L., Schluter, A., Fourcade, S., Paredes-Fuentes, A. J., Artuch, R., Casasnovas, C., Ruiz, M., Pujol, A. <strong>Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.</strong> Brain 147: 2069-2084, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38763511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38763511</a>] [<a href="https://doi.org/10.1093/brain/awae038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38763511">Launay et al. (2024)</a> then studied mitochondria in C. elegans deficient in pmp-4, the ortholog of ABCD1. Mutant worms had abnormal appearing axonal mitochondria, which normalized with drp-1 silencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38763511" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>26 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300371[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<p>In fibroblasts from a patient with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), <a href="#7" class="mim-tip-reference" title="Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., Aubourg, P. <strong>Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 2: 1949-1951, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904210</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7904210">Cartier et al. (1993)</a> found a 4.2-kb transcript, as in normal fibroblasts, by Northern blot analysis. However, a probe from the 5-prime end of the ALD gene detected an abnormal 1.9-kb TaqI restriction DNA fragment pointing to a novel TaqI restriction site in exon 1. Further study revealed a G-to-A transition at base 1258 in the ALD allele of the affected patient and in one allele of his mother, converting glutamic acid to lysine at residue 291. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904210" 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">rs128624214 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624214;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=rs128624214" 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=rs128624214" 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=RCV000012045" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012045" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012045</a>
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<p><a href="#5" class="mim-tip-reference" title="Berger, J., Molzer, B., Fae, I., Bernheimer, H. <strong>X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.</strong> Biochem. Biophys. Res. Commun. 205: 1638-1643, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811247</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7811247">Berger et al. (1994)</a> used PCR to amplify fragments of ALD cDNA from a patient with adolescent adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>). Bidirectional sequencing of the entire coding ALD gene disclosed a C-to-G transversion at nucleotide 1451 in exon 5, resulting in substitution of proline-484 by arginine. Altogether, 5 of 9 sibs had the mutation: the proband with adolescent ALD, 2 with cerebral ALD, 1 with adrenomyeloneuropathy, and 1 with Addison disease only. All 5, as well as the symptomatic mother, showed accumulation of very long chain fatty acids. The mutation was not found in unaffected members of the family in 5 unrelated ALD patients or in 20 controls. The mother had slowly progressive spastic paraparesis. Thus, 5 different phenotypes were observed in the 6 affected members of the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811247" 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">rs1569541109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569541109;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=rs1569541109" 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=rs1569541109" 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=RCV000012046 OR RCV002399317 OR RCV003886360" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012046, RCV002399317, RCV003886360" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012046...</a>
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<p>In a patient with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), <a href="#23" class="mim-tip-reference" title="Kemp, S., Ligtenberg, M. J. L., van Geel, B. M., Barth, P. G., Sarde, C.-O., van Oost, B. A., Bolhuis, P. A. <strong>Two intronic mutations in the adrenoleukodystrophy gene.</strong> Hum. Mutat. 6: 272-273, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535452</a>] [<a href="https://doi.org/10.1002/humu.1380060316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8535452">Kemp et al. (1995)</a> found an A-to-G transition at position -2 of the splice acceptor site at the 3-prime end of intron 6. In the patient's mother, both the normal and the mutant allele were present. Exon 7 of the ALD gene contains a sequence that can serve as a cryptic splice site. Splicing at this site creates an mRNA of which 34 bp are deleted, which leads to a frameshift at amino acid arg545, immediately followed by a stop codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535452" 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 ADRENOLEUKODYSTROPHY</strong>
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ABCD1, IVS8AS, G-A, -10, 8-BP INS
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</div>
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</span>
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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> rs398123108 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123108;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/rs398123108?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=rs398123108" 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=rs398123108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000077961 OR RCV000414732 OR RCV000626568 OR RCV001000924 OR RCV002408605" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000077961, RCV000414732, RCV000626568, RCV001000924, RCV002408605" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000077961...</a>
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<span class="mim-text-font">
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<p>In a patient with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), <a href="#23" class="mim-tip-reference" title="Kemp, S., Ligtenberg, M. J. L., van Geel, B. M., Barth, P. G., Sarde, C.-O., van Oost, B. A., Bolhuis, P. A. <strong>Two intronic mutations in the adrenoleukodystrophy gene.</strong> Hum. Mutat. 6: 272-273, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8535452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8535452</a>] [<a href="https://doi.org/10.1002/humu.1380060316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8535452">Kemp et al. (1995)</a> found an insertion of 8 bp at the start of exon 9 of the ALD gene. Sequencing of the genomic fragment containing the 149-bp intron 8 revealed that the G at position -10 of the 3-prime splice acceptor site of exon 9 was substituted with an A. This mutation created an upstream novel splice acceptor site. The 8-bp insertion led to a frameshift at position arg622 and a premature stop codon 16 amino acids downstream. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8535452" 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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<br />
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</div>
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<div>
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<div>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, ARG389GLY
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</div>
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</span>
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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> rs128624215 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624215;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/rs128624215?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=rs128624215" 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=rs128624215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012048 OR RCV003488335" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012048, RCV003488335" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012048...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which 1 male had adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>), <a href="#28" class="mim-tip-reference" title="Krasemann, E. W., Meier, V., Korenke, G. C., Hunneman, D. H., Hanefeld, F. <strong>Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.</strong> Hum. Genet. 97: 194-197, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566952</a>] [<a href="https://doi.org/10.1007/BF02265264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566952">Krasemann et al. (1996)</a> identified a de novo mutation in exon 3 of the ALD gene: a C-to-G transversion at nucleotide 1551 resulting in an arg389-to-gly substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8566952" 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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</span>
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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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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, ASN148SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624216 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624216;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=rs128624216" 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=rs128624216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012049 OR RCV001268346" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012049, RCV001268346" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012049...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified an A-to-G transition at nucleotide 829 in exon 1 of the ALD gene, converting asparagine-148 to serine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" 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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</span>
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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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<div>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, TYR174ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624217 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624217;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=rs128624217" 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=rs128624217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012050" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012050" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012050</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a T-to-G transversion at nucleotide 906 in exon 1 of the ALD gene, converting tyrosine-174 to aspartic acid. The mutation creates a new TaqI restriction site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" 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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</span>
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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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<div>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, GLY266ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624218 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624218;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=rs128624218" 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=rs128624218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012051 OR RCV000723479 OR RCV001358196 OR RCV002415409" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012051, RCV000723479, RCV001358196, RCV002415409" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012051...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a G-to-A transition at nucleotide 1182 in exon 1 of the ALD gene, converting glycine-266 to arginine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" 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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</span>
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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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<div>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, ARG401GLN
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624219 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624219;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=rs128624219" 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=rs128624219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012052 OR RCV001001636 OR RCV001781249" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012052, RCV001001636, RCV001781249" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012052...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a G-to-A transition at nucleotide 1588 in exon 3 of the ALD gene, converting arginine-401 to glutamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 ADRENOLEUKODYSTROPHY</strong>
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</h4>
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ABCD1, ARG418TRP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624220 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624220;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=rs128624220" 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=rs128624220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012053 OR RCV000518515" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012053, RCV000518515" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012053...</a>
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a C-to-T transition at nucleotide 1638 in exon 4 of the ALD gene, converting arginine-418 to tryptophan. The patient's mother carried the same nucleotide substitution in heterozygous form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, ARG464TER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624221;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=rs128624221" 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=rs128624221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012054 OR RCV001781250 OR RCV003415686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012054, RCV001781250, RCV003415686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012054...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 1 patient with Addison disease at age 10 years and adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>) at age 15 years, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a C-to-T transition at nucleotide 1776 in exon 4 of the ALD gene, converting arginine to a premature termination codon at residue 464. The mutation creates a new BglII restriction site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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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</span>
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<br />
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</div>
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<div>
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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, 2-BP DEL, 1801AG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906494 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906494;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=rs387906494" 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=rs387906494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012055 OR RCV000516943 OR RCV004752700" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012055, RCV000516943, RCV004752700" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012055...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with the classic childhood form of adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), <a href="#4" class="mim-tip-reference" title="Barcelo, A., Giros, M., Sarde, C. O., Martinez-Bermejo, A., Mandel, J. L., Pampols, T., Estivill, X. <strong>Identification of a new frameshift mutation (1801delAG) in the ALD gene.</strong> Hum. Molec. Genet. 3: 1889-1890, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849718</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849718">Barcelo et al. (1994)</a> and <a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> identified a 2-bp (AG) deletion at nucleotides 1801-1802 in exon 5, leading to a frameshift after the first 471 amino acids and a premature termination codon. The predicted mutated protein would have 553 amino acids (192 residues less than the normal protein), losing both ATP binding sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7849718+7849723" 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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</span>
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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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<div>
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<a id="0013" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0013 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, GLU477TER
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</div>
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</span>
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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> rs128624222 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624222;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/rs128624222?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=rs128624222" 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=rs128624222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012056" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012056" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012056</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a G-to-T transition at nucleotide 1815 in exon 5 of the ALD gene, converting glutamic acid to a premature termination codon at residue 477. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" 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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</span>
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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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<div>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, SER515PHE
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624223 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624223;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=rs128624223" 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=rs128624223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012057" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012057" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012057</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A. <strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong> Hum. Molec. Genet. 3: 1903-1905, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849723</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849723">Fuchs et al. (1994)</a> studied 10 unrelated German patients with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) and identified a C-to-T transition at nucleotide 1930 in exon 6 of the ALD gene, converting serine-515 to phenylalanine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849723" 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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</span>
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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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<div>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, 1-BP DEL, 1937C
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906495 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906495;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=rs387906495" 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=rs387906495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012058" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012058" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012058</a>
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</span>
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<span class="mim-text-font">
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<p><a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a 1-bp deletion at nucleotide 1937 of the ALD gene, leading to a termination codon at position 557 in exon 6 and a truncated protein. The mutation was detected in the heterozygous mother of a boy who died at age 13 years from cerebral adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, ARG518TRP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs128624224 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624224;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=rs128624224" 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=rs128624224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012059 OR RCV000723537 OR RCV001358358" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012059, RCV000723537, RCV001358358" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012059...</a>
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</span>
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<span class="mim-text-font">
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<p>In an adult patient who developed adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>) at age 27 years, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a C-to-T transition at nucleotide 1938 in exon 6 of the ALD gene, converting arginine-518 to tryptophan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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>
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<div>
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<a id="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, IVS6DS, G-A, +1
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569541096 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569541096;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=rs1569541096" 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=rs1569541096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012060" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012060" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012060</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p><a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a G-to-A substitution at position 2020, which is the first nucleotide of the donor splice site of intron 6 of the ALD gene. The mutation was detected in an adult who developed adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>) at age 28 years and died at age 43 years from cerebral involvement. This family illustrates the marked clinical variation of adrenoleukodystrophy: 2 infantile cerebral cases, 1 pure adrenomyeloneuropathy case, and 1 Addison disease case were diagnosed among the brothers or nephews of this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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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</span>
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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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<div>
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<a id="0018" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0018 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, 2-BP DEL, 2177TA
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148398995 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148398995;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=rs2148398995" 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=rs2148398995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012061</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which 2 brothers had cerebral adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), one at age 7 years and the other at age 9 years, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a 2-bp (TA) deletion at nucleotide 2177 of the ALD gene, leading to a termination codon at position 599 in exon 8 and a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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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</span>
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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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<div>
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<a id="0019" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0019 ADDISON DISEASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, SER606LEU
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</div>
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</span>
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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> rs128624225 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs128624225;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/rs128624225?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=rs128624225" 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=rs128624225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012062 OR RCV000180094 OR RCV000517966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012062, RCV000180094, RCV000517966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012062...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient who had Addison disease without neurologic involvement at 20 years of age, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a C-to-T transition at nucleotide 2203 in exon 8 of the ALD gene, converting serine-606 to leucine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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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</span>
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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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<div>
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<a id="0020" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0020 ADDISON DISEASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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ABCD1, 1-BP DEL, 2204G
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148399029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148399029;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=rs2148399029" 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=rs2148399029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012063" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012063" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012063</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which the affected propositus had isolated Addison disease at age 21 years, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a 1-bp (G) deletion at nucleotide 2204 of the ALD gene, leading to a termination codon at position 635 in exon 8 and a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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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</span>
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<strong>.0021 ADRENOMYELONEUROPATHY</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> rs11146842 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11146842;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/rs11146842?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=rs11146842" 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=rs11146842" 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=RCV000012064 OR RCV000723904" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012064, RCV000723904" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012064...</a>
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<p>In a patient who developed adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>) with cerebral involvement at age 33 years, <a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a G-to-A transition at nucleotide 2236 in exon 8 of the ALD gene, converting arginine-617 to histidine. The mutation leads to a conservative change at the first amino acid of the Walker B motif. The mutation was absent in DNA from the patient's mother, who had normal plasma VLCFA levels (predicting a noncarrier status). Therefore, the arg617-to-his mutation presented by this patient is likely to be a de novo mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" 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>.0022 ADRENOLEUKODYSTROPHY</strong>
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ABCD1, ARG617CYS
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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> rs4010613 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4010613;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/rs4010613?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=rs4010613" 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=rs4010613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012065 OR RCV001093003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012065, RCV001093003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012065...</a>
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<p><a href="#14" class="mim-tip-reference" title="Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P. <strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong> J. Clin. Invest. 94: 516-520, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040304</a>] [<a href="https://doi.org/10.1172/JCI117363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040304">Fanen et al. (1994)</a> identified a C-to-T transition at nucleotide 2235 in exon 8 of the ALD gene, converting arginine-617 to cysteine. The mutation was discovered in a family in which the index case died of cerebral adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>) at age 9 years. DNA from this patient was not available for study, but the mutation was shown to be present in his heterozygous mother and sister and absent in his normal brother, sister, and aunt. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0023" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0023 ADRENOLEUKODYSTROPHY</strong>
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ABCD1, 3-BP DEL, 1258GAG, GLU291DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906496 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906496;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=rs387906496" 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=rs387906496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012066 OR RCV000675191" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012066, RCV000675191" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012066...</a>
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<p>The glu291-to-lys mutation of the ALD gene (<a href="#0001">300371.0001</a>) is a recognized cause of adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>). <a href="#22" class="mim-tip-reference" title="Kano, S., Watanabe, M., Kanai, M., Koike, R., Onodera, O., Tsuji, S., Okamoto, K., Shoji, M. <strong>A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report.</strong> J. Neurol. Sci. 158: 187-192, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9702690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9702690</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00120-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9702690">Kano et al. (1998)</a> described deletion of codon 291 (GAG) in a Japanese family with a variety of phenotypes in affected individuals. Whereas the proband was classified as having a rare intermediate type of adult cerebral and cerebello-brainstem form of ALD, his younger brother and nephew had the childhood type of ALD. Another nephew was classified as having an adolescent form. At 47 years of age, the proband developed depression, personality change, forgetfulness, and carelessness. He was noted to be severely amotivational, apathetic, and irritable. These behavioral abnormalities resulted in occupational and social compromise and hospitalization at age 48. No skin pigmentation was noted. The level of tau (<a href="/entry/157140">157140</a>) in the proband's cerebrospinal fluid was as high as that of patients with Alzheimer disease (<a href="/entry/104300">104300</a>). His brain MRI showed bilateral abnormalities in the cerebellar hemispheres and brainstem, but not in the cerebral white matter, where marked reductions of cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography. The proband's younger brother developed mental deterioration, inactiveness, impaired vision, slurring of speech, and gait disturbance at age 8. He died 1 year later of respiratory failure. Autopsy was performed in his case and in that of one of the nephews, who had onset of symptoms at age 7 and died at age 9. Autopsy in both showed massive demyelination of the cerebral white matter but sparing of the U-fibers, compatible with childhood ALD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9702690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0024" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0024 ADRENOLEUKODYSTROPHY</strong>
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</h4>
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<span class="mim-text-font">
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ABCD1, IVS8DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569541198 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569541198;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=rs1569541198" 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=rs1569541198" 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=RCV000012067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012067</a>
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<p><a href="#18" class="mim-tip-reference" title="Guimaraes, C. P., Lemos, M., Menezes, I., Coelho, T., Sa-Miranda, C., Azevedo, J. E. <strong>Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.</strong> Hum. Genet. 109: 616-622, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810273</a>] [<a href="https://doi.org/10.1007/s00439-001-0632-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810273">Guimaraes et al. (2001)</a> found a splice site mutation in the ABCD1 gene which was associated with production of a small quantity of correctly spliced mRNA molecules and a small amount of ALD protein detected by Western blot analysis. The atypical and relatively mild early course of the patient was attributed to the existence of some normal ALDP. The patient was a 23-year-old man who had developed normally until the age of 9 years, when he was diagnosed with Addison disease. At that time, no neurologic involvement could be observed. Five years later, he was biochemically diagnosed with adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>); VLCFA levels were found to be increased in both plasma and skin fibroblasts. At the age of 21 years, muscular weakness and difficulty in walking led him to a new clinical evaluation; spastic paraparesis with neurophysiologic abnormalities with an altered spinal cord MRI and a normal cerebral MRI were found. Eighteen months later, the patient displayed a cerebral AMN subphenotype associated with an affected cerebellum. He was in a vegetative state at the time of report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0025" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0025 ADRENOLEUKODYSTROPHY</strong>
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ABCD1, IVS1DS, G-A, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569540743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569540743;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=rs1569540743" 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=rs1569540743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012068</a>
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<p><a href="#18" class="mim-tip-reference" title="Guimaraes, C. P., Lemos, M., Menezes, I., Coelho, T., Sa-Miranda, C., Azevedo, J. E. <strong>Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.</strong> Hum. Genet. 109: 616-622, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810273</a>] [<a href="https://doi.org/10.1007/s00439-001-0632-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810273">Guimaraes et al. (2001)</a> described a 'leaky' splicing mutation in a patient with atypical adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>). The alteration was at the -1 position of the donor splice site of exon 1. The mutation resulted in the utilization of a cryptic 5-prime splice site within intron 1. Nevertheless, this change allowed for some correct splicing. Western blot analysis showed the existence of normal-migrating ALD protein. However, as expected, the levels of this protein were greatly decreased. The patient was a 44-year-old man who showed an AMN pure subphenotype of X-ALD. He was diagnosed with Addison disease at the age of 22 years. Ten years later spastic paraparesis was manifested and the biochemical diagnosis (increased VLCFA levels in plasma and fibroblasts) established him as an X-ALD patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0026" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0026 ADRENOMYELONEUROPATHY</strong>
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</h4>
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ABCD1, 26-BP DEL, NT369
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906497 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906497;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=rs387906497" 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=rs387906497" 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=RCV000012069" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012069" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012069</a>
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<p>In a large kindred in which 22 members over 6 generations had adrenomyeloneuropathy (AMN; see <a href="/entry/300100">300100</a>), <a href="#45" class="mim-tip-reference" title="O'Neill, G. N., Aoki, M., Brown, R. H., Jr. <strong>ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN.</strong> Neurology 57: 1956-1962, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11739809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11739809</a>] [<a href="https://doi.org/10.1212/wnl.57.11.1956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11739809">O'Neill et al. (2001)</a> identified a 26-bp deletion (nucleotides 369-394) in the N terminus of the ABCD1 gene, resulting in deletion of amino acids 1-65, including the translation initiation codon. In cells of affected members, the protein was found at reduced levels and appeared to localize normally within the cell, but beta-oxidative function was severely reduced to approximately 20% of normal. The kindred had a highly concordant phenotype with onset in the thirties or forties of a progressive gait disturbance, lower extremity spasticity, hyperreflexia, and occasional sensory abnormalities. The mutation segregated with the disease in 5 affected men and 7 affected women who were tested and was absent in 30 unaffected family members and 40 normal controls, suggesting X-linked dominant inheritance with 100% disease penetrance in female carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11739809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Aguilar1967" class="mim-tip-reference" title="Aguilar, M. J., O'Brien, J. S., Taber, P. <strong>The syndrome of familial leukodystrophy, adrenal insufficiency and cutaneous melanosis. In: Aronson, S. M.; Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism.</strong> Oxford: Pergamon Press (pub.) 1967. Pp. 149-166.">Aguilar et al. (1967)</a>; <a href="#Di1980" class="mim-tip-reference" title="Di Chiro, G., Eiben, R. M., Manz, H. J., Jacobs, I. B., Schellinger, D. <strong>A new CT pattern in adrenoleukodystrophy.</strong> Radiology 137: 687-692, 1980.">Di Chiro et al. (1980)</a>; <a href="#Dodd1997" class="mim-tip-reference" title="Dodd, A., Rowland, S. A., Hawkes, S. L. J., Kennedy, M. A., Love, D. R. <strong>Mutations in the adrenoleukodystrophy gene.</strong> Hum. Mutat. 9: 500-511, 1997.">Dodd et al. (1997)</a>; <a href="#Hoefnagel1967" class="mim-tip-reference" title="Hoefnagel, D., Brun, A., Ingbar, S. H., Goldman, H. <strong>Addison's disease and diffuse cerebral sclerosis.</strong> J. Neurol. Neurosurg. Psychiat. 30: 56-60, 1967.">Hoefnagel et al. (1967)</a>; <a href="#Lu1997" class="mim-tip-reference" title="Lu, J. F., Lawler, A. M., Watkins, P. A., Powers, J. M., Moser, A. B., Moser, H. W., Smith, K. D. <strong>A mouse model for X-linked adrenoleukodystrophy.</strong> Proc. Nat. Acad. Sci. 94: 9366-9371, 1997.">Lu et al. (1997)</a>; <a href="#Moser1981" class="mim-tip-reference" title="Moser, H. W., Moser, A. B., Frayer, K. K., Chen, W., Schulman, J. D., O'Neill, B. P., Kishimoto, Y. <strong>Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.</strong> Neurology 31: 1241-1249, 1981.">Moser et al. (1981)</a>; <a href="#Moser1984" class="mim-tip-reference" title="Moser, H. W., Moser, A. E., Singh, I., O'Neill, B. P. <strong>Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.</strong> Ann. Neurol. 16: 628-641, 1984.">Moser
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et al. (1984)</a>; <a href="#Naidu1988" class="mim-tip-reference" title="Naidu, S., Bresnan, M. J., Griffin, D., O'Toole, S., Moser, H. W. <strong>Childhood adrenoleukodystrophy: failure of intensive immunosuppression to arrest neurologic progression.</strong> Arch. Neurol. 45: 846-848, 1988.">Naidu et al. (1988)</a>; <a href="#Noetzel1987" class="mim-tip-reference" title="Noetzel, M. J., Landau, W. M., Moser, H. W. <strong>Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder.</strong> Arch. Neurol. 44: 566-567, 1987.">Noetzel et al. (1987)</a>; <a href="#O'Neill1981" class="mim-tip-reference" title="O'Neill, B. P., Marmion, L. C., Feringa, E. R. <strong>The adrenoleukomyeloneuropathy complex: expression in four generations.</strong> Neurology 31: 151-156, 1981.">O'Neill et
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al. (1981)</a>; <a href="#O'Neill1982" class="mim-tip-reference" title="O'Neill, B. P., Moser, H. W., Saxena, K. M. <strong>Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts.</strong> Neurology 32: 543-547, 1982.">O'Neill et al. (1982)</a>; <a href="#O'Neill1982" class="mim-tip-reference" title="O'Neill, B. P., Moser, H. W., Saxena, K. M. <strong>Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts.</strong> Neurology 32: 543-547, 1982.">O'Neill et al. (1982)</a>; <a href="#Peckham1982" class="mim-tip-reference" title="Peckham, R. S., Marshall, M. C., Jr., Rosman, P. M., Farag, A., Kabadi, U., Wallace, E. Z. <strong>A variant of adrenomyeloneuropathy with hypothalamic-pituitary dysfunction and neurologic remission after glucocorticoid replacement therapy.</strong> Am. J. Med. 72: 173-176, 1982.">Peckham et
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al. (1982)</a>; <a href="#Penman1960" class="mim-tip-reference" title="Penman, R. W. B. <strong>Addison's disease in association with spastic paraplegia.</strong> Brit. Med. J. 1: 402, 1960.">Penman (1960)</a>; <a href="#Schaumburg1977" class="mim-tip-reference" title="Schaumburg, H. H., Powers, J. M., Raine, C. S., Spencer, P. S., Griffin, J. W., Prineas, J. W., Boehme, D. M. <strong>Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects.</strong> Neurology 27: 1114-1119, 1977.">Schaumburg et al. (1977)</a>; <a href="#Schaumburg1975" class="mim-tip-reference" title="Schaumburg, H. H., Powers, J. M., Raine, C. S., Suzuki, K., Richardson, E. P., Jr. <strong>Adrenoleukodystrophy: a clinical and pathological study of 17 cases.</strong> Arch. Neurol. 32: 577-591, 1975.">Schaumburg et
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al. (1975)</a>; <a href="#Takano1999" class="mim-tip-reference" title="Takano, H., Koike, R., Onodera, O., Sasaki, R., Tsuji, S. <strong>Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.</strong> Arch. Neurol. 56: 295-300, 1999.">Takano et al. (1999)</a>
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<a id="Aguilar1967" class="mim-anchor"></a>
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Aguilar, M. J., O'Brien, J. S., Taber, P.
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<strong>The syndrome of familial leukodystrophy, adrenal insufficiency and cutaneous melanosis. In: Aronson, S. M.; Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism.</strong>
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Oxford: Pergamon Press (pub.) 1967. Pp. 149-166.
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Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P.
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<strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 14: 1293-1303, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15800013" 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/ddi140" target="_blank">Full Text</a>]
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Aubourg, P., Mosser, J., Douar, A. M., Sarde, C. O., Lopez, J., Mandel, J. L.
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<strong>Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.</strong>
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Biochimie 75: 293-302, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8507690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8507690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8507690" 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/10.1016/0300-9084(93)90089-b" target="_blank">Full Text</a>]
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Barcelo, A., Giros, M., Sarde, C. O., Martinez-Bermejo, A., Mandel, J. L., Pampols, T., Estivill, X.
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<strong>Identification of a new frameshift mutation (1801delAG) in the ALD gene.</strong>
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Hum. Molec. Genet. 3: 1889-1890, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849718" 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/3.10.1889" target="_blank">Full Text</a>]
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Berger, J., Molzer, B., Fae, I., Bernheimer, H.
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<strong>X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.</strong>
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Biochem. Biophys. Res. Commun. 205: 1638-1643, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7811247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1994.2855" target="_blank">Full Text</a>]
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Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stockler, S., Rabl, W., Gartner, J., Zierz, S., Roscher, A. A.
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<strong>Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.</strong>
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Am. J. Hum. Genet. 56: 854-861, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7717396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7717396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7717396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., Aubourg, P.
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<strong>Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 2: 1949-1951, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904210" 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/2.11.1949" target="_blank">Full Text</a>]
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Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., Raymond, G. V., Smith, K. D., Watkins, P. A., Moser, A. B., Moser, H. W., Steinberg, S. J.
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<strong>Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.</strong>
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Am. J. Hum. Genet. 70: 1520-1531, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11992258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11992258</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11992258[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=11992258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/340849" target="_blank">Full Text</a>]
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Dean, M., Rzhetsky, A., Allikmets, R.
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<strong>The human ATP-binding cassette (ABC) transporter superfamily.</strong>
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Genome Res. 11: 1156-1166, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435397" 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/10.1101/gr.184901" target="_blank">Full Text</a>]
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<a id="Di Chiro1980" class="mim-anchor"></a>
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Di Chiro, G., Eiben, R. M., Manz, H. J., Jacobs, I. B., Schellinger, D.
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<strong>A new CT pattern in adrenoleukodystrophy.</strong>
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Radiology 137: 687-692, 1980.
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[<a href="https://doi.org/10.1148/radiology.137.3.7444053" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.7.991" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380060203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02265264" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<348::AID-HUMU7>3.0.CO;2-N" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/awae038" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.94.17.9366" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30951" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.31.10.1241" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1987.00520170092031" target="_blank">Full Text</a>]
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<strong>The Arabidopsis pxa1 mutant is defective in an ATP-binding cassette transporter-like protein required for peroxisomal fatty acid beta-oxidation.</strong>
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Plant Physiol. 127: 1266-1278, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11706205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11706205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11706205[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=11706205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 08/30/2024
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Cassandra L. Kniffin - updated : 12/8/2009<br>George E. Tiller - updated : 6/5/2008<br>George E. Tiller - updated : 5/19/2008<br>George E. Tiller - updated : 5/21/2007<br>Marla J. F. O'Neill - updated : 10/25/2005<br>George E. Tiller - updated : 2/25/2005<br>Cassandra L. Kniffin - updated : 4/2/2003<br>Cassandra L. Kniffin - updated : 1/21/2003
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Creation Date:
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Gerald V. Raymond : 1/13/2003
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carol : 08/30/2024
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carol : 09/25/2022<br>carol : 02/22/2017<br>alopez : 02/21/2017<br>mgross : 11/28/2011<br>wwang : 1/4/2010<br>ckniffin : 12/8/2009<br>wwang : 6/5/2008<br>wwang : 5/20/2008<br>terry : 5/19/2008<br>wwang : 6/1/2007<br>terry : 5/21/2007<br>wwang : 10/27/2005<br>terry : 10/25/2005<br>tkritzer : 3/4/2005<br>terry : 3/3/2005<br>terry : 2/25/2005<br>carol : 2/3/2004<br>carol : 4/18/2003<br>tkritzer : 4/8/2003<br>ckniffin : 4/2/2003<br>carol : 1/30/2003<br>tkritzer : 1/28/2003<br>ckniffin : 1/21/2003<br>carol : 1/13/2003<br>carol : 1/13/2003<br>carol : 1/13/2003
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<span class="mim-font">
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<strong>*</strong> 300371
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<h3>
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ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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ADRENOLEUKODYSTROPHY PROTEIN; ALDP
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ABCD1</em></strong>
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<strong>SNOMEDCT:</strong> 1269423000, 363732003, 65389002;
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<strong>ICD10CM:</strong> E27.1, E71.52, E71.522, E71.529;
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Cytogenetic location: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:153,724,856-153,744,755 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq28
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Adrenoleukodystrophy
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300100
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X-linked recessive
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3
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Adrenomyeloneuropathy, adult
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300100
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>ABCD1 (ALDP) maps to Xq28 and is mutated in the X-linked disorder adrenoleukodystrophy (ALD; 300100). ABCD1 is a member of the ATP-binding cassette (ABC) transporter superfamily. The superfamily contains membrane proteins that translocate a wide variety of substrates across extra- and intracellular membranes, including metabolic products, lipids and sterols, and drugs. Overexpression of certain ABC transporters occurs in cancer cell lines and tumors that are multidrug resistant such as ABCB1/MDR1 (171050), ABCC1/MRP1 (158343), and ABCG2 (603756). The family also includes ABCC7/CFTR (602421), the gene mutated in the autosomal recessive condition cystic fibrosis (Dean et al., 2001). </p>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Using positional cloning, Mosser et al. (1993) identified a gene partially deleted in 6 of 85 unrelated patients with adrenoleukodystrophy. In familial cases, the deletions segregated with the disease. In particular, an identical deletion was detected in 2 brothers with different clinical phenotypes of ALD. Candidate exons, identified by computer analysis of genomic sequences, were used to isolate cDNAs by exon-connection and screening of cDNA libraries. Northern blot data provided by Mosser et al. (1993) showed that some tissues with abundant peroxisomes (liver and kidney) have low levels of ALDP transcript, whereas other tissues with fewer peroxisomes (cardiac and skeletal muscle) have high levels. Valle and Gartner (1993) found it appealing, however, to think that ALDP is a peroxisomal membrane transporter directly involved in the import of the peroxisomal enzyme whose activity is defective, lignoceroyl-CoA synthetase (also known as very long chain fatty acid-CoA (VLCFA-CoA) synthetase (van den Bosch et al., 1992)). Aubourg et al. (1993) provided a review of the molecular information, including evidence that the 'ALD protein' is a peroxisomal transporter protein involved in the import or anchoring of VLCFA-CoA synthetase. The gene has an open reading frame of 2,235 bases which encodes a 745-amino acid protein with 38.5% amino acid identity and 78.9% similarity to the PMP70 protein (ABCD3; 170995). It was found to have no homology to the rat gene for long chain acyl-CoA synthetase. </p><p>Sarde et al. (1994) reported the sequence of the mouse ALD cDNA and data suggesting that homologous sequences are present in a wide range of species, including S. cerevisiae and C. elegans. Shani et al. (1995) cloned and characterized PXA1, a gene of Saccharomyces cerevisiae, which, because of similarities in sequence and function, they proposed to be an ortholog of the ALD gene. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Eichler et al. (1997) identified a 9.7-kb segment encompassing exons 7 to 10 of the ALD gene that has duplicated to specific locations near the pericentromeric regions of chromosomes 2p11, 10p11, 16p11, and 22q11. Comparative sequence analysis reveals 92 to 96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution, i.e., 5 to 10 million years ago. Analysis of sequences flanking the duplication region identified an unusual GCTTTTTGC repeat that may be a sequence-specific integration site for the process of pericentromeric-directed transposition. The breakpoint sequence and phylogenetic analysis predicted a 2-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. Eichler et al. (1997) stated that knowledge of this duplicated segment should facilitate effective mutation detection among ALD patients and provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for nonhomologous interchromosomal exchange. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sarde et al. (1994) reported that the ALD gene extends over 21 kb and contains 10 exons. </p><p>Kennedy et al. (1996) showed that the mouse Ald gene contains 10 exons and spans about 22 kb in band B of the X chromosome, 47 cM from the centromere. </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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ABCD1 expresses a half transporter which is located in the peroxisome. When mutated, ABCD1 results in the condition adrenoleukodystrophy with an elevation in very long chain fatty acids. ABCD1 is 1 of 4 related peroxisomal transporters that are found in the human genome, the others being ABCD2 (601081), ABCD3 (170995), and ABCD4 (603214). These genes are highly conserved in evolution, and 2 homologous genes are present in the yeast genome, PXA1 and PXA2. The PXA2 gene has been demonstrated to transport long chain fatty acids (Shani and Valle, 1996; Verleur et al., 1997). A defective pxa1 gene in Arabidopsis thaliana results in defective import of fatty acids into the peroxisome (Zolman et al., 2001). </p><p>Kobayashi et al. (1994) raised an antibody against the synthetic C-terminal peptides deduced from the cDNA of the ALD gene and used it to demonstrate an 80-kD band protein in control fibroblasts that was absent in a patient with ALD, in whom ALD mRNA was undetectable on Southern blot analysis. In an immunocytologic study, staining with the antibody was in a punctate pattern in normal fibroblasts, whereas no punctate staining was seen in cells from the ALD patient. These data were interpreted as indicating that the ALD gene encodes a membrane protein of 80 kD. </p><p>Ho et al. (1995) predicted that disruptive effects of the accumulation of very long chain saturated fatty acids on cell membrane structure and function may explain the neurologic manifestations of ALD patients. Especially the 26-carbon acid, hexacosanoic acid, is involved. They studied the interaction of radiolabelled hexacosanoic acid with model membranes and bovine serum albumin by NMR spectroscopy to compare properties of the hexacosanoic acid with those of typical dietary fatty acids. Desorption of hexacosanoic acid from membranes was orders of magnitude slower than that of shorter-chain fatty acids and binding to serum albumin was ineffective. </p><p>Using transient and stable overexpression of human cDNAs encoding the ALD protein and its closest relative, the ALDR (ABCD2; 601081) protein, Netik et al. (1999) could restore the impaired peroxisomal beta-oxidation in fibroblasts of ALD patients. The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of the ALDR protein in immortalized ALD cells. Immunofluorescence analysis demonstrated that the functional replacement of ALD protein by ALDR protein was not due to stabilization of the mutated ALD protein itself. Moreover, Netik et al. (1999) could restore the peroxisomal beta-oxidation defect in the liver of Ald-deficient mice by stimulation of Aldr and Pmp70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate. These results suggested that a correction of the biochemical defect in ALD might be possible by drug-induced overexpression or ectopic expression of the ALDR gene. </p><p>In cell cultures and mouse tissue, McGuinness et al. (2003) showed that the ALDP protein transporter may facilitate an interaction between peroxisomes and mitochondria, the 2 sites of VLCFA beta-oxidation. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Using positional cloning, Mosser et al. (1993) identified a gene on Xq28 that was partially deleted in 6 of 85 unrelated patients with adrenoleukodystrophy. In familial cases, the deletions segregated with the disease. </p><p>Cartier et al. (1993) found abnormalities in the putative ALD gene in 6 patients, including one with a transcript which, although indistinguishable in size from controls, had a missense mutation predicting a glu291-to-lys substitution in a conserved region of the ALD protein; see 300371.0001. </p><p>Mosser et al. (1994) raised monoclonal antibodies against the ALD protein that detected a 75-kD band. This protein was absent in several patients with adrenoleukodystrophy. Immunofluorescence and immunoelectron microscopy showed that the ALDP is associated with the peroxisomal membrane. It may be involved in the import of very long chain fatty acid CoA synthase into the peroxisomal membrane. </p><p>To facilitate the detection of mutations in the ALD gene, Sarde et al. (1994) determined the intronic sequences flanking the exons as well as the sequence of the 3-prime untranslated region and of the immediate 5-prime promoter region. Sequences present in distal exons cross-hybridized strongly to additional sequences in the human genome. On a pulsed field map, they positioned the ALD gene between DXS15 and the L1CAM gene (308840), about 650 kb upstream from the color pigment genes. Because of the distance separating ALD from the color vision genes, Sarde et al. (1994) suggested that the frequent occurrence of color vision anomalies in patients with adrenomyeloneuropathy (the adult-onset form of ALD) may represent a secondary manifestation (i.e., the consequence of cerebral involvement) of ALD and not a contiguous gene syndrome. </p><p>To determine whether mutations occur in the ATP-binding domain, termed the nucleotide-binding fold (NBF), of the ALD protein, Fanen et al. (1994) used denaturing gradient gel electrophoresis (DGGE) to analyze exons 6 and 8, which encode this domain, in 50 ALD patients. They identified 4 amino acid substitutions, 3 frameshift mutations leading to a premature termination signal, and 1 splice mutation. These amino acid substitutions occurred at residues highly conserved in other ATP-binding cassette (ABC) proteins. In addition, they reported the first observation of a nonsense mutation in the ALD gene, occurring in exon 4. </p><p>Ligtenberg et al. (1995) performed a systematic analysis of the open reading frame of the ALD gene, using RT-PCR followed by direct sequencing, and demonstrated mutations in all 28 unrelated kindreds analyzed. No entire gene deletions or drastic promoter mutations were detected. In only 1 kindred did the mutation involve multiple exons. The other mutations were small alterations leading to missense (13 of 28) or nonsense mutations, a single amino acid deletion, frameshifts, or splice acceptor-site defects. The gene mutant in ALD encodes an ATP-binding transporter that is located in the peroxisomal membrane. Mutations affecting a single amino acid were concentrated in the region between the third and fourth putative transmembrane domains and in the ATP-binding domain. Braun et al. (1995) determined the mutations in the ALD gene in patients with different clinical phenotypes. </p><p>In 4 of 112 patients with ALD, Kok et al. (1995) detected large deletions of the carboxyl-terminal portion of the ALD gene. In 25 of the ALD probands whose ALD genes appeared normal by Southern blot analysis, they found variants on single strand conformation polymorphism (SSCP) analysis in 22; SSCP variants were found in none of 60 X chromosomes from normal individuals. Mutations were detected in all of the ALD probands. The mutations were distributed throughout the gene and did not correlate with phenotype. Approximately half were nonrecurrent missense mutations of which 64% occurred in CpG dinucleotides. There was a small cluster of frameshift mutations in a small region of exon 5, including an identical AG deletion in 7 unrelated probands. The data supported overwhelmingly the supposition that mutations in the putative ALD gene result in the disease. </p><p>In a screening of patients with adrenoleukodystrophy/adrenomyeloneuropathy from 20 kindreds, Krasemann et al. (1996) identified 19 mutations: 11 missense and 2 nonsense mutations, 5 deletions, and 1 insertion. Four mutations could be shown to be de novo. No correlation between the type of mutation and the severity of the phenotype could be determined with the exception of the R401Q mutation. Krasemann et al. (1996) stated that all mutations were detected only once. R617 seemed to be a hotspot of mutations, since they found 2 mutations (R617G and R617C) in addition to the mutations described previously by others. </p><p>Lachtermacher et al. (2000) noted that a very small percentage (0.1%) of affected males had plasma C26:0 levels that are borderline normal, and 15% of obligate female carriers have normal results. Effective mutation detection in these families is therefore fundamental to unambiguous determination of genetic status. Of particular concern are female members of kindreds segregating X-ALD mutations, because normal VLCFA levels do not guarantee lack of carrier status. Lachtermacher et al. (2000) described a fast method for detection of X-ALD mutations. The method was based on SSCP analysis of nested PCR fragments followed by sequence-determination reactions. Using this method, they found X-ALD mutations in 30 kindreds, including 15 not previously reported. </p><p>Dvorakova et al. (2001) examined the ABCD1 gene in probands from 11 unrelated Czech and Slovak families with X-linked ALD by the direct sequencing of cDNA or genomic PCR products. In 10 families there were 10 different mutations, 8 of which were novel. They also identified the first polymorphism causing an amino acid exchange in the ABCD1 gene, asn13 to thr. </p><p>Unterrainer et al. (2000) showed that restoration of beta-oxidation in X-ALD fibroblasts following transient transfection with normal ALD cDNA is more effective in ALDP-deficient fibroblasts compared with fibroblasts expressing normal amounts of mutated ALDP. Utilizing the HeLa Tet-on system, they constructed a stable HeLa cell line expressing a constant level of endogenous ALDP and doxycycline-inducible levels of mutated ALDP. Although mutated ALDP increased more than 6-fold in a dosage-dependent manner, the total amount of ALDP (mutated and normal) remained approximately even as demonstrated by Western blot and flow cytometric analyses. Increased amounts of mutated ALDP resulted in decreased peroxisomal beta-oxidation and accumulation of very long chain fatty acids. The authors hypothesized that mutated and normal ALDP may compete for integration into a limited number of sites in the peroxisomal membrane. </p><p>Kemp et al. (2001) reviewed ABCD1 mutations in X-linked adrenoleukodystrophy. The majority of the mutations are point mutations, but large deletions had been described. No correlation between genotype and phenotype was evident. In 15 to 20% of obligate heterozygotes, results of tests for elevated levels of VLCFA in plasma were false-negative. Therefore, mutation analysis is the only reliable method for identification of heterozygotes. Kemp et al. (2001) reviewed the 406 mutations contained in an online X-linked adrenoleukodystrophy mutation database and reported 47 novel mutations. </p><p>Corzo et al. (2002) described a contiguous gene microdeletion syndrome involving the ABCD1 and BCAP31 (300398) genes, which they called the contiguous ABCD1/DXS1375E deletion syndrome (CADDS; 300475). </p><p>In a 3-year-old Japanese boy with X-linked ALD, Matsumoto et al. (2005) identified a partial deletion (exons 3 to 10) of the ABCD1 gene with fusion to a neighboring gene, PLXNB3 (300214). Sequencing showed that the breakpoints were at nucleotide +1374 in intron 2 of the ABCD1 gene and at nucleotide +915 in intron 2 of the PLXNB3 gene. The mother was confirmed as a carrier of the deletion. </p><p>Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN), and AMN with cerebral demyelination are the main phenotypic variants of X-linked adrenoleukodystrophy. Asheuer et al. (2005) studied the expression of the ABCD1, ABCD2, ABCD3, and ABCD4 genes and 2 VLCFA synthetase genes, VLCS (SLC27A2; 603247) and BG1 (ACSBG1; 614362), in fibroblasts and brains from normal controls and ALD patients with the 3 main phenotypes, and they studied VLCFA concentrations in normal-appearing white matter from ALD patients with the 3 main phenotypes. The authors showed that ABCD1-truncating mutations were unlikely to cause variation in the ALD phenotype. Accumulation of saturated VLCFA in normal-appearing white matter correlated with ALD phenotype. Expression of ABCD4 and BG1, but not of the ABCD2, ABCD3, and VLCS genes, tended to correlate with the severity of the disease, acting early in the pathogenesis of ALD. </p><p>Launay et al. (2024) observed mitochondrial network abnormalities in fibroblasts from patients with ALD after treatment with C26:0 very long chain fatty acid, which resolved with treatment with the antioxidant N-acetylcysteine. C26:0 treatment also resulted in increased phosphorylation of DRP1 (128240) and translocation to the mitochondrial network. Treatment with a DRP1 inhibitor resolved the mitochondrial network abnormalities. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Forss-Petter et al. (1997) generated mice deficient in ALDP by targeted disruption. Motor functions in Aldp-deficient mice developed on schedule, and unexpectedly, adult animals appeared unaffected by neurologic symptoms up to 6 months of age. Biochemical analyses demonstrated impaired beta-oxidation in mutant fibroblasts and abnormal accumulation of very long chain fatty acids in the CNS and kidney. In 6-month-old mutants, adrenal cortex cells displayed a ballooned morphology and needle-like lipid inclusions, also found in testis and ovaries. However, lipid inclusions and demyelinating lesions of the CNS were not a feature. </p><p>Heinzer et al. (2003) characterized a very long chain acyl-CoA synthetase (VLCS) knockout mouse that exhibited decreased peroxisomal VLCS activity and VLCFA beta-oxidation but did not accumulate VLCFAs. They generated mice doubly null for Vlcs and Abcd1; the double knockout mice had the biochemical abnormalities observed in the individual knockout mice but did not display a more severe X-linked ALD phenotype. Heinzer et al. (2003) concluded that VLCFA levels are independent of peroxisomal fatty acid beta-oxidation, that there is no ABCD1/VLCS interaction, and that the common severe forms of X-linked ALD cannot be modeled by decreasing peroxisomal VLCS activity in the X-linked ALD mouse. </p><p>In Abcd1-knockout mice, Pujol et al. (2004) demonstrated that axonal damage was the first pathologic event in this model, followed by myelin degeneration. The phenotype could be modulated through expression levels of Abcd2 (601081). Overexpression of Abcd2 in Abcd1-knockout mice prevented both VLCFA accumulation and neurodegenerative features, whereas Abcd1/Abcd2 double mutants exhibited an earlier onset and more severe disease. </p><p>Oezen et al. (2005) reported normal VLCFA levels in mitochondria of Abcd1-deficient mice. Polarographic analyses of the respiratory chain as well as enzymatic assays of isolated muscle mitochondria revealed no differences between Abcd1-deficient and control mice. Ultrastructural analysis revealed normal size, structure, and localization of mitochondria in muscle of both groups. Mitochondrial enzyme activities in brain homogenates of Abcd1-deficient and wildtype animals also did not differ, and studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts of ALD patients and controls revealed no abnormalities. Oezen et al. (2005) concluded that accumulation of VLCFA per se does not cause mitochondrial abnormalities, and vice versa mitochondrial abnormalities are not responsible for the accumulation of VLCFA in Abcd1-deficient mice. </p><p>Fourcade et al. (2008) found evidence of lipoxidative protein damage in the spinal cord of Abcd1-null mice as early as 3.5 months of age before the onset of neurologic symptoms. At 12 months, Abcd1-null mice had accumulated additional proteins affected by oxidative damage. Abcd1-null mice, spinal cord slices from these mice, and human ALD fibroblasts all showed a defective antioxidant response to VLCFA. </p><p>Launay et al. (2024) identified abnormalities of axonal mitochondria in the corticospinal tracts of Abcd1- mice. In 14-month-old Abcd1- mouse spinal cords, Launay et al. (2024) identified donut-shaped mitochondria in presynaptic boutons, indicating mitochondrial stress. Furthermore, in 12-month-old Abcd1- mouse spinal cord neurons, Launay et al. (2024) identified increased expression of phosphorylated Drp1, indicating increased mitochondrial fission. Treatment of 8-month-old Abcd1- mice with antioxidants for 4 months resulted in normalized Drp1 expression. Launay et al. (2024) then studied mitochondria in C. elegans deficient in pmp-4, the ortholog of ABCD1. Mutant worms had abnormal appearing axonal mitochondria, which normalized with drp-1 silencing. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>26 Selected Examples):</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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<h4>
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<span class="mim-font">
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<strong>.0001 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, GLU291LYS
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<br />
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SNP: rs128624213,
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ClinVar: RCV000012044
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<span class="mim-text-font">
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<p>In fibroblasts from a patient with adrenoleukodystrophy (ALD; 300100), Cartier et al. (1993) found a 4.2-kb transcript, as in normal fibroblasts, by Northern blot analysis. However, a probe from the 5-prime end of the ALD gene detected an abnormal 1.9-kb TaqI restriction DNA fragment pointing to a novel TaqI restriction site in exon 1. Further study revealed a G-to-A transition at base 1258 in the ALD allele of the affected patient and in one allele of his mother, converting glutamic acid to lysine at residue 291. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ABCD1, PRO484ARG
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SNP: rs128624214,
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ClinVar: RCV000012045
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<span class="mim-text-font">
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<p>Berger et al. (1994) used PCR to amplify fragments of ALD cDNA from a patient with adolescent adrenoleukodystrophy (ALD; 300100). Bidirectional sequencing of the entire coding ALD gene disclosed a C-to-G transversion at nucleotide 1451 in exon 5, resulting in substitution of proline-484 by arginine. Altogether, 5 of 9 sibs had the mutation: the proband with adolescent ALD, 2 with cerebral ALD, 1 with adrenomyeloneuropathy, and 1 with Addison disease only. All 5, as well as the symptomatic mother, showed accumulation of very long chain fatty acids. The mutation was not found in unaffected members of the family in 5 unrelated ALD patients or in 20 controls. The mother had slowly progressive spastic paraparesis. Thus, 5 different phenotypes were observed in the 6 affected members of the family. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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ABCD1, IVS6AS, A-G, -2
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<br />
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SNP: rs1569541109,
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ClinVar: RCV000012046, RCV002399317, RCV003886360
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<span class="mim-text-font">
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<p>In a patient with adrenoleukodystrophy (ALD; 300100), Kemp et al. (1995) found an A-to-G transition at position -2 of the splice acceptor site at the 3-prime end of intron 6. In the patient's mother, both the normal and the mutant allele were present. Exon 7 of the ALD gene contains a sequence that can serve as a cryptic splice site. Splicing at this site creates an mRNA of which 34 bp are deleted, which leads to a frameshift at amino acid arg545, immediately followed by a stop codon. </p>
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<h4>
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<span class="mim-font">
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<strong>.0004 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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ABCD1, IVS8AS, G-A, -10, 8-BP INS
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<br />
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SNP: rs398123108,
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gnomAD: rs398123108,
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ClinVar: RCV000077961, RCV000414732, RCV000626568, RCV001000924, RCV002408605
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</span>
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<span class="mim-text-font">
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<p>In a patient with adrenoleukodystrophy (ALD; 300100), Kemp et al. (1995) found an insertion of 8 bp at the start of exon 9 of the ALD gene. Sequencing of the genomic fragment containing the 149-bp intron 8 revealed that the G at position -10 of the 3-prime splice acceptor site of exon 9 was substituted with an A. This mutation created an upstream novel splice acceptor site. The 8-bp insertion led to a frameshift at position arg622 and a premature stop codon 16 amino acids downstream. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, ARG389GLY
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<br />
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SNP: rs128624215,
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gnomAD: rs128624215,
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ClinVar: RCV000012048, RCV003488335
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family in which 1 male had adrenomyeloneuropathy (AMN; see 300100), Krasemann et al. (1996) identified a de novo mutation in exon 3 of the ALD gene: a C-to-G transversion at nucleotide 1551 resulting in an arg389-to-gly substitution. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>.0006 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, ASN148SER
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<br />
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SNP: rs128624216,
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ClinVar: RCV000012049, RCV001268346
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified an A-to-G transition at nucleotide 829 in exon 1 of the ALD gene, converting asparagine-148 to serine. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>.0007 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, TYR174ASP
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<br />
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SNP: rs128624217,
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ClinVar: RCV000012050
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a T-to-G transversion at nucleotide 906 in exon 1 of the ALD gene, converting tyrosine-174 to aspartic acid. The mutation creates a new TaqI restriction site. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, GLY266ARG
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<br />
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SNP: rs128624218,
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ClinVar: RCV000012051, RCV000723479, RCV001358196, RCV002415409
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a G-to-A transition at nucleotide 1182 in exon 1 of the ALD gene, converting glycine-266 to arginine. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0009 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ABCD1, ARG401GLN
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<br />
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SNP: rs128624219,
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|
|
ClinVar: RCV000012052, RCV001001636, RCV001781249
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a G-to-A transition at nucleotide 1588 in exon 3 of the ALD gene, converting arginine-401 to glutamine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, ARG418TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624220,
|
|
|
|
|
|
|
|
ClinVar: RCV000012053, RCV000518515
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a C-to-T transition at nucleotide 1638 in exon 4 of the ALD gene, converting arginine-418 to tryptophan. The patient's mother carried the same nucleotide substitution in heterozygous form. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ADRENOMYELONEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, ARG464TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624221,
|
|
|
|
|
|
|
|
ClinVar: RCV000012054, RCV001781250, RCV003415686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 patient with Addison disease at age 10 years and adrenomyeloneuropathy (AMN; see 300100) at age 15 years, Fanen et al. (1994) identified a C-to-T transition at nucleotide 1776 in exon 4 of the ALD gene, converting arginine to a premature termination codon at residue 464. The mutation creates a new BglII restriction site. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, 2-BP DEL, 1801AG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906494,
|
|
|
|
|
|
|
|
ClinVar: RCV000012055, RCV000516943, RCV004752700
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients with the classic childhood form of adrenoleukodystrophy (ALD; 300100), Barcelo et al. (1994) and Fuchs et al. (1994) identified a 2-bp (AG) deletion at nucleotides 1801-1802 in exon 5, leading to a frameshift after the first 471 amino acids and a premature termination codon. The predicted mutated protein would have 553 amino acids (192 residues less than the normal protein), losing both ATP binding sites. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, GLU477TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624222,
|
|
|
|
|
|
gnomAD: rs128624222,
|
|
|
|
|
|
ClinVar: RCV000012056
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a G-to-T transition at nucleotide 1815 in exon 5 of the ALD gene, converting glutamic acid to a premature termination codon at residue 477. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, SER515PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624223,
|
|
|
|
|
|
|
|
ClinVar: RCV000012057
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fuchs et al. (1994) studied 10 unrelated German patients with adrenoleukodystrophy (ALD; 300100) and identified a C-to-T transition at nucleotide 1930 in exon 6 of the ALD gene, converting serine-515 to phenylalanine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, 1-BP DEL, 1937C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906495,
|
|
|
|
|
|
|
|
ClinVar: RCV000012058
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fanen et al. (1994) identified a 1-bp deletion at nucleotide 1937 of the ALD gene, leading to a termination codon at position 557 in exon 6 and a truncated protein. The mutation was detected in the heterozygous mother of a boy who died at age 13 years from cerebral adrenoleukodystrophy (ALD; 300100). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 ADRENOMYELONEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, ARG518TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624224,
|
|
|
|
|
|
|
|
ClinVar: RCV000012059, RCV000723537, RCV001358358
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an adult patient who developed adrenomyeloneuropathy (AMN; see 300100) at age 27 years, Fanen et al. (1994) identified a C-to-T transition at nucleotide 1938 in exon 6 of the ALD gene, converting arginine-518 to tryptophan. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 ADRENOMYELONEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, IVS6DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1569541096,
|
|
|
|
|
|
|
|
ClinVar: RCV000012060
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fanen et al. (1994) identified a G-to-A substitution at position 2020, which is the first nucleotide of the donor splice site of intron 6 of the ALD gene. The mutation was detected in an adult who developed adrenomyeloneuropathy (AMN; see 300100) at age 28 years and died at age 43 years from cerebral involvement. This family illustrates the marked clinical variation of adrenoleukodystrophy: 2 infantile cerebral cases, 1 pure adrenomyeloneuropathy case, and 1 Addison disease case were diagnosed among the brothers or nephews of this patient. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, 2-BP DEL, 2177TA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2148398995,
|
|
|
|
|
|
|
|
ClinVar: RCV000012061
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family in which 2 brothers had cerebral adrenoleukodystrophy (ALD; 300100), one at age 7 years and the other at age 9 years, Fanen et al. (1994) identified a 2-bp (TA) deletion at nucleotide 2177 of the ALD gene, leading to a termination codon at position 599 in exon 8 and a truncated protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 ADDISON DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, SER606LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs128624225,
|
|
|
|
|
|
gnomAD: rs128624225,
|
|
|
|
|
|
ClinVar: RCV000012062, RCV000180094, RCV000517966
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient who had Addison disease without neurologic involvement at 20 years of age, Fanen et al. (1994) identified a C-to-T transition at nucleotide 2203 in exon 8 of the ALD gene, converting serine-606 to leucine. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 ADDISON DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, 1-BP DEL, 2204G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2148399029,
|
|
|
|
|
|
|
|
ClinVar: RCV000012063
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family in which the affected propositus had isolated Addison disease at age 21 years, Fanen et al. (1994) identified a 1-bp (G) deletion at nucleotide 2204 of the ALD gene, leading to a termination codon at position 635 in exon 8 and a truncated protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ADRENOMYELONEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, ARG617HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs11146842,
|
|
|
|
|
|
gnomAD: rs11146842,
|
|
|
|
|
|
ClinVar: RCV000012064, RCV000723904
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient who developed adrenomyeloneuropathy (AMN; see 300100) with cerebral involvement at age 33 years, Fanen et al. (1994) identified a G-to-A transition at nucleotide 2236 in exon 8 of the ALD gene, converting arginine-617 to histidine. The mutation leads to a conservative change at the first amino acid of the Walker B motif. The mutation was absent in DNA from the patient's mother, who had normal plasma VLCFA levels (predicting a noncarrier status). Therefore, the arg617-to-his mutation presented by this patient is likely to be a de novo mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, ARG617CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs4010613,
|
|
|
|
|
|
gnomAD: rs4010613,
|
|
|
|
|
|
ClinVar: RCV000012065, RCV001093003
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Fanen et al. (1994) identified a C-to-T transition at nucleotide 2235 in exon 8 of the ALD gene, converting arginine-617 to cysteine. The mutation was discovered in a family in which the index case died of cerebral adrenoleukodystrophy (ALD; 300100) at age 9 years. DNA from this patient was not available for study, but the mutation was shown to be present in his heterozygous mother and sister and absent in his normal brother, sister, and aunt. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 ADRENOLEUKODYSTROPHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCD1, 3-BP DEL, 1258GAG, GLU291DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906496,
|
|
|
|
|
|
|
|
ClinVar: RCV000012066, RCV000675191
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>The glu291-to-lys mutation of the ALD gene (300371.0001) is a recognized cause of adrenoleukodystrophy (ALD; 300100). Kano et al. (1998) described deletion of codon 291 (GAG) in a Japanese family with a variety of phenotypes in affected individuals. Whereas the proband was classified as having a rare intermediate type of adult cerebral and cerebello-brainstem form of ALD, his younger brother and nephew had the childhood type of ALD. Another nephew was classified as having an adolescent form. At 47 years of age, the proband developed depression, personality change, forgetfulness, and carelessness. He was noted to be severely amotivational, apathetic, and irritable. These behavioral abnormalities resulted in occupational and social compromise and hospitalization at age 48. No skin pigmentation was noted. The level of tau (157140) in the proband's cerebrospinal fluid was as high as that of patients with Alzheimer disease (104300). His brain MRI showed bilateral abnormalities in the cerebellar hemispheres and brainstem, but not in the cerebral white matter, where marked reductions of cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography. The proband's younger brother developed mental deterioration, inactiveness, impaired vision, slurring of speech, and gait disturbance at age 8. He died 1 year later of respiratory failure. Autopsy was performed in his case and in that of one of the nephews, who had onset of symptoms at age 7 and died at age 9. Autopsy in both showed massive demyelination of the cerebral white matter but sparing of the U-fibers, compatible with childhood ALD. </p>
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<h4>
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<span class="mim-font">
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<strong>.0024 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ABCD1, IVS8DS, G-A, +1
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<br />
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SNP: rs1569541198,
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ClinVar: RCV000012067
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<span class="mim-text-font">
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<p>Guimaraes et al. (2001) found a splice site mutation in the ABCD1 gene which was associated with production of a small quantity of correctly spliced mRNA molecules and a small amount of ALD protein detected by Western blot analysis. The atypical and relatively mild early course of the patient was attributed to the existence of some normal ALDP. The patient was a 23-year-old man who had developed normally until the age of 9 years, when he was diagnosed with Addison disease. At that time, no neurologic involvement could be observed. Five years later, he was biochemically diagnosed with adrenoleukodystrophy (ALD; 300100); VLCFA levels were found to be increased in both plasma and skin fibroblasts. At the age of 21 years, muscular weakness and difficulty in walking led him to a new clinical evaluation; spastic paraparesis with neurophysiologic abnormalities with an altered spinal cord MRI and a normal cerebral MRI were found. Eighteen months later, the patient displayed a cerebral AMN subphenotype associated with an affected cerebellum. He was in a vegetative state at the time of report. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0025 ADRENOLEUKODYSTROPHY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ABCD1, IVS1DS, G-A, -1
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<br />
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SNP: rs1569540743,
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ClinVar: RCV000012068
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<span class="mim-text-font">
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<p>Guimaraes et al. (2001) described a 'leaky' splicing mutation in a patient with atypical adrenoleukodystrophy (ALD; 300100). The alteration was at the -1 position of the donor splice site of exon 1. The mutation resulted in the utilization of a cryptic 5-prime splice site within intron 1. Nevertheless, this change allowed for some correct splicing. Western blot analysis showed the existence of normal-migrating ALD protein. However, as expected, the levels of this protein were greatly decreased. The patient was a 44-year-old man who showed an AMN pure subphenotype of X-ALD. He was diagnosed with Addison disease at the age of 22 years. Ten years later spastic paraparesis was manifested and the biochemical diagnosis (increased VLCFA levels in plasma and fibroblasts) established him as an X-ALD patient. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0026 ADRENOMYELONEUROPATHY</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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ABCD1, 26-BP DEL, NT369
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<br />
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SNP: rs387906497,
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ClinVar: RCV000012069
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<span class="mim-text-font">
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<p>In a large kindred in which 22 members over 6 generations had adrenomyeloneuropathy (AMN; see 300100), O'Neill et al. (2001) identified a 26-bp deletion (nucleotides 369-394) in the N terminus of the ABCD1 gene, resulting in deletion of amino acids 1-65, including the translation initiation codon. In cells of affected members, the protein was found at reduced levels and appeared to localize normally within the cell, but beta-oxidative function was severely reduced to approximately 20% of normal. The kindred had a highly concordant phenotype with onset in the thirties or forties of a progressive gait disturbance, lower extremity spasticity, hyperreflexia, and occasional sensory abnormalities. The mutation segregated with the disease in 5 affected men and 7 affected women who were tested and was absent in 30 unaffected family members and 40 normal controls, suggesting X-linked dominant inheritance with 100% disease penetrance in female carriers. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Aguilar et al. (1967); Di Chiro et al. (1980); Dodd et al. (1997);
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Hoefnagel et al. (1967); Lu et al. (1997); Moser et al. (1981); Moser
|
|
et al. (1984); Naidu et al. (1988); Noetzel et al. (1987); O'Neill et
|
|
al. (1981); O'Neill et al. (1982); O'Neill et al. (1982); Peckham et
|
|
al. (1982); Penman (1960); Schaumburg et al. (1977); Schaumburg et
|
|
al. (1975); Takano et al. (1999)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aguilar, M. J., O'Brien, J. S., Taber, P.
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<strong>The syndrome of familial leukodystrophy, adrenal insufficiency and cutaneous melanosis. In: Aronson, S. M.; Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism.</strong>
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Oxford: Pergamon Press (pub.) 1967. Pp. 149-166.
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Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P.
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<strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 14: 1293-1303, 2005.
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[Full Text: https://doi.org/10.1093/hmg/ddi140]
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Aubourg, P., Mosser, J., Douar, A. M., Sarde, C. O., Lopez, J., Mandel, J. L.
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<strong>Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.</strong>
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Biochimie 75: 293-302, 1993.
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<p class="mim-text-font">
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Barcelo, A., Giros, M., Sarde, C. O., Martinez-Bermejo, A., Mandel, J. L., Pampols, T., Estivill, X.
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<strong>Identification of a new frameshift mutation (1801delAG) in the ALD gene.</strong>
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Hum. Molec. Genet. 3: 1889-1890, 1994.
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[PubMed: 7849718]
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[Full Text: https://doi.org/10.1093/hmg/3.10.1889]
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<p class="mim-text-font">
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Berger, J., Molzer, B., Fae, I., Bernheimer, H.
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<strong>X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.</strong>
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Biochem. Biophys. Res. Commun. 205: 1638-1643, 1994.
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[PubMed: 7811247]
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[Full Text: https://doi.org/10.1006/bbrc.1994.2855]
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Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stockler, S., Rabl, W., Gartner, J., Zierz, S., Roscher, A. A.
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<strong>Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.</strong>
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Am. J. Hum. Genet. 56: 854-861, 1995.
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[PubMed: 7717396]
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Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., Aubourg, P.
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<strong>Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 2: 1949-1951, 1993.
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[PubMed: 7904210]
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[Full Text: https://doi.org/10.1093/hmg/2.11.1949]
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Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., Raymond, G. V., Smith, K. D., Watkins, P. A., Moser, A. B., Moser, H. W., Steinberg, S. J.
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<strong>Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.</strong>
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Am. J. Hum. Genet. 70: 1520-1531, 2002.
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Dean, M., Rzhetsky, A., Allikmets, R.
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<strong>The human ATP-binding cassette (ABC) transporter superfamily.</strong>
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Genome Res. 11: 1156-1166, 2001.
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Di Chiro, G., Eiben, R. M., Manz, H. J., Jacobs, I. B., Schellinger, D.
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<strong>A new CT pattern in adrenoleukodystrophy.</strong>
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Radiology 137: 687-692, 1980.
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[PubMed: 7444053]
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Dodd, A., Rowland, S. A., Hawkes, S. L. J., Kennedy, M. A., Love, D. R.
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<strong>Mutations in the adrenoleukodystrophy gene.</strong>
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Hum. Mutat. 9: 500-511, 1997.
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5]
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Dvorakova, L., Storkanova, G., Unterrainer, G., Hujova, J., Kmoch, S., Zeman, J., Hrebicek, M., Berger, J.
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<strong>Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.</strong>
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Hum. Mutat. 18: 52-60, 2001.
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[PubMed: 11438993]
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Eichler, E. E., Budarf, M. L., Rocchi, M., Deaven, L. L., Doggett, N. A., Baldini, A., Nelson, D. L., Mohrenweiser, H. W.
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<strong>Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.</strong>
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Hum. Molec. Genet. 6: 991-1002, 1997.
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[PubMed: 9215666]
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[Full Text: https://doi.org/10.1093/hmg/6.7.991]
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Fanen, P., Guidoux, S., Sarde, C.-O., Mandel, J.-L., Goossens, M., Aubourg, P.
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<strong>Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.</strong>
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J. Clin. Invest. 94: 516-520, 1994.
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[PubMed: 8040304]
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[Full Text: https://doi.org/10.1172/JCI117363]
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</p>
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<p class="mim-text-font">
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Forss-Petter, S., Werner, H., Berger, J., Lassmann, H., Molzer, B., Schwab, M. H., Bernheimer, H., Zimmermann, F., Nave, K.-A.
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<strong>Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice.</strong>
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J. Neurosci. Res. 50: 829-843, 1997.
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[PubMed: 9418970]
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[Full Text: https://doi.org/10.1002/(SICI)1097-4547(19971201)50:5<829::AID-JNR19>3.0.CO;2-W]
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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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Fourcade, S., Lopez-Erauskin, J., Galino, J., Duval, C., Naudi, A., Jove, M., Kemp, S., Villarroya, F., Ferrer, I., Pamplona, R., Portero-Otin, M., Pujol, A.
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<strong>Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 17: 1762-1773, 2008.
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[PubMed: 18344354]
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[Full Text: https://doi.org/10.1093/hmg/ddn085]
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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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Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., Gal, A.
|
|
<strong>Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).</strong>
|
|
Hum. Molec. Genet. 3: 1903-1905, 1994.
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[PubMed: 7849723]
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[Full Text: https://doi.org/10.1093/hmg/3.10.1903]
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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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Guimaraes, C. P., Lemos, M., Menezes, I., Coelho, T., Sa-Miranda, C., Azevedo, J. E.
|
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<strong>Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.</strong>
|
|
Hum. Genet. 109: 616-622, 2001.
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[PubMed: 11810273]
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[Full Text: https://doi.org/10.1007/s00439-001-0632-z]
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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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Heinzer, A. K., Watkins, P. A., Lu, J.-F., Kemp, S., Moser, A. B., Li, Y. Y., Mihalik, S., Powers, J. M., Smith, K. D.
|
|
<strong>A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.</strong>
|
|
Hum. Molec. Genet. 12: 1145-1154, 2003.
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[PubMed: 12719378]
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[Full Text: https://doi.org/10.1093/hmg/ddg126]
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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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Ho, J. K., Moser, H., Kishimoto, Y., Hamilton, J. A.
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<strong>Interactions of a very long chain fatty acid with model membranes and serum albumin: implications for the pathogenesis of adrenoleukodystrophy.</strong>
|
|
J. Clin. Invest. 96: 1455-1463, 1995.
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[PubMed: 7657817]
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[Full Text: https://doi.org/10.1172/JCI118182]
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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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Hoefnagel, D., Brun, A., Ingbar, S. H., Goldman, H.
|
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<strong>Addison's disease and diffuse cerebral sclerosis.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 30: 56-60, 1967.
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</p>
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</li>
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Zolman, B. K., Silva, I. D., Bartel, B.
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<strong>The Arabidopsis pxa1 mutant is defective in an ATP-binding cassette transporter-like protein required for peroxisomal fatty acid beta-oxidation.</strong>
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