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Entry
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- *602859 - PEROXISOME BIOGENESIS FACTOR 10; PEX10
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- OMIM
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<p>
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<span class="h4">*602859</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602859">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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 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="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=ENSG00000157911;t=ENST00000447513" 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=5192" 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=602859" 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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<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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<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=ENSG00000157911;t=ENST00000447513" 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_001374425,NM_001374426,NM_001374427,NM_002617,NM_153818,NR_164636,XM_011541576,XM_047422539" 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_002617" 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=602859" 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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</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=04175&isoform_id=04175_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/PEX10" 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/3170653,3914299,4505715,6518431,12653541,17390443,24797089,49457107,119576509,119576510,119576511,119576512,193784947,767904627,1751869934,1751898633,1751898735,2217268120,2462510038,2462510040" 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/O60683" 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 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=5192" 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=ENSG00000157911;t=ENST00000447513" 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=PEX10" 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=PEX10" 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+5192" 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/PEX10" 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:5192" 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/5192" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000447513.7&hgg_start=2403974&hgg_end=2413827&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/genes/HGNC:8851" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602859[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=602859[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://gnomad.broadinstitute.org/gene/ENSG00000157911" 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=PEX10" 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=PEX10" 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=PEX10" 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.dbpex.org/" 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=PEX10&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/PA33193" 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:8851" 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/FBgn0035233.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:2684988" 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/PEX10#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:2684988" 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/5192/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=5192" 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=WBGene00016318;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-041010-71" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5192" 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=PEX10&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602859
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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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PEROXISOME BIOGENESIS FACTOR 10; PEX10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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PEROXIN 10
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PEX10" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PEX10</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/68?start=-3&limit=10&highlight=68">1p36.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:2403974-2413827&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:2,403,974-2,413,827</a> </span>
|
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</em>
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</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>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614870,614871" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
|
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
|
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68">
|
|
1p36.32
|
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</a>
|
|
</span>
|
|
</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 6A (Zellweger)
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614870"> 614870 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Peroxisome biogenesis disorder 6B
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614871"> 614871 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602859" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p><a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> identified the human ortholog of yeast PEX10. <a href="#4" class="mim-tip-reference" title="Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y. <strong>Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.</strong> Hum. Molec. Genet. 7: 1399-1405, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700193</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700193">Okumoto et al. (1998)</a> isolated a human PEX10 cDNA by an expressed sequence tag (EST) homology search of a human DNA database using yeast Pex10 from Hansenula polymorpha, followed by screening of a human liver cDNA library. This cDNA encodes a peroxisomal protein comprising 326 amino acids with 2 putative transmembrane segments and a C3HC4 zinc finger RING motif. Both the N- and C-terminal regions of the PEX10 protein are exposed to the cytosol, as assessed by an expression study of epitope-tagged PEX10 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9700193+9683594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Peroxisome Biogenesis Disorder 6A (Zellweger)</em></strong></p><p>
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The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities and severe mental retardation; in their most severe form, death occurs within the first year of life. Cells from all PBD patients exhibit decreased import of one or more classes of peroxisome matrix proteins, a phenotype shared by yeast Pex mutants. <a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> observed that Pex10 expression rescued peroxisomal matrix-protein import in PBD patients' fibroblasts from complementation group 7 (CG7). In addition, they detected mutations on both copies of PEX10 in 2 unrelated CG7 patients. A Zellweger syndrome (PBD6A; <a href="/entry/614870">614870</a>) patient was homozygous for a donor splice site mutation (<a href="#0001">602859.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y. <strong>Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.</strong> Hum. Molec. Genet. 7: 1399-1405, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700193</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700193">Okumoto et al. (1998)</a> showed that PEX10 expression morphologically and biochemically restored peroxisome biogenesis in fibroblasts from Zellweger patients of the complementation group called B in Japan and 7 in the U.S. One patient was found to be homozygous for an inactivating mutation, a 2-bp deletion immediately upstream of the RING motif, which resulted in a frameshift, altering 65 amino acids from the normal (<a href="#0004">602859.0004</a>). This implied that the C-terminal part, including the RING finger, is required for biologic function of the PEX10 protein. PEX10 cDNA derived from the patient with the mutation was defective in peroxisome-restoring activity when expressed in patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Peroxisome Biogenesis Disorder 6B</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> found that a patient with PBD6B (<a href="/entry/614871">614871</a>), a phenotype milder than Zellweger syndrome and more consistent with neonatal adrenoleukodystrophy, was compound heterozygous for a missense mutation (H290Q; <a href="#0002">602859.0002</a>) and a nonsense mutation (R125X; <a href="#0003">602859.0003</a>) in the PEX10 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" 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 young woman (PBD687) with a mild form of PBD6B manifest as cerebellar ataxia, previously reported by <a href="#2" class="mim-tip-reference" title="Clayton, P. T., Johnson, A. W., Mills, K. A., Lynes, G. W., Wilson, J., Casteels, M., Mannaerts, G. <strong>Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.</strong> J. Inherit. Metab. Dis. 19: 761-768, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8982949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8982949</a>] [<a href="https://doi.org/10.1007/BF01799170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8982949">Clayton et al. (1996)</a>, <a href="#7" class="mim-tip-reference" title="Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W. <strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong> J. Inherit. Metab. Dis. 32: 109-119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19127411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19127411</a>] [<a href="https://doi.org/10.1007/s10545-008-0969-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19127411">Steinberg et al. (2009)</a> identified compound heterozygous mutations in the PEX10 gene (<a href="#0007">602859.0007</a> and <a href="#0008">602859.0008</a>). <a href="#7" class="mim-tip-reference" title="Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W. <strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong> J. Inherit. Metab. Dis. 32: 109-119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19127411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19127411</a>] [<a href="https://doi.org/10.1007/s10545-008-0969-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19127411">Steinberg et al. (2009)</a> noted the mild and atypical phenotype associated with the peroxisome disorder in this patient. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19127411+8982949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with PBD6B manifest as childhood-onset cerebellar ataxia and neuropathy, <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a> identified compound heterozygous mutations in the PEX10 gene (<a href="#0005">602859.0005</a>; <a href="#0009">602859.0009</a>-<a href="#0011">602859.0011</a>). Functional studies of the variants were not performed, but transfection of patient fibroblasts with wildtype PEX10 rescued the mildly abnormal peroxisome phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20695019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Warren, D. S., Wolfe, B. D., Gould, S. J. <strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong> Hum. Mutat. 15: 509-521, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10862081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10862081</a>] [<a href="https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10862081">Warren et al. (2000)</a> reported phenotype-genotype correlations in patients with PEX10-deficient peroxisome biogenesis disorder. All 4 PEX10-deficient Zellweger syndrome patients were found to have nonsense, frameshift, or splice site mutations that removed large portions of the PEX10 coding region. In contrast, a more mildly affected PEX10-deficient neonatal adrenoleukodystrophy patient expressed a PEX10 allele with a missense mutation, H290Q (<a href="#0002">602859.0002</a>), affecting the C-terminal zinc-binding domain of the PEX10 product. These results supported the hypothesis that severe loss-of-function mutations in PEX genes cause more severe clinical phenotypes, whereas mildly affected PBD patients have PEX gene mutations that retain residual function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10862081" 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 quantitate the effects of PEX10 mutations, <a href="#10" class="mim-tip-reference" title="Warren, D. S., Wolfe, B. D., Gould, S. J. <strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong> Hum. Mutat. 15: 509-521, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10862081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10862081</a>] [<a href="https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10862081">Warren et al. (2000)</a> used a functional complementation assay. They observed that nonsense and frameshift mutations predicted to delete the C-terminal two-thirds (R125X; <a href="#0003">602859.0003</a>) or one-third (704insA) of the protein displayed nearly normal PEX10 activity. They also found that the unexpectedly high PEX10 activity displayed by these cDNAs could be eliminated by removing or mutating segments of the PEX10 cDNA downstream of the mutations. Although these results demonstrated serious flaws in the PEX10 functional complementation assay, they suggested that the C-terminal zinc-binding domain is critical for PEX10 function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10862081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chen, H., Liu, Z., Huang, X. <strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong> Hum. Molec. Genet. 19: 494-505, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>] [<a href="https://doi.org/10.1093/hmg/ddp518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19933170">Chen et al. (2010)</a> reported that Drosophila pex mutants, including Pex2 (<a href="/entry/170993">170993</a>), Pex10, and Pex12 (<a href="/entry/601758">601758</a>), faithfully recapitulated several key features of human PBD, including impaired peroxisomal protein import, elevated very long chain fatty acid (VLCFA) levels, and growth retardation. Moreover, disruption of pex function resulted in spermatogenesis defects, including spermatocyte cytokinesis failure in Drosophila. Increased VLCFA levels enhanced these spermatogenesis defects whereas reduced VLCFA levels alleviated them. <a href="#1" class="mim-tip-reference" title="Chen, H., Liu, Z., Huang, X. <strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong> Hum. Molec. Genet. 19: 494-505, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>] [<a href="https://doi.org/10.1093/hmg/ddp518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19933170">Chen et al. (2010)</a> concluded that regulation of proper VLCFA levels by pex genes is crucial for spermatogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19933170" 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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</span>
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<strong>12 Selected Examples</a>):</strong>
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</h4>
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<p />
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<a href="/allelicVariants/602859" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602859[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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<a id="0001" class="mim-anchor"></a>
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<h4>
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<strong>.0001 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
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PEX10, IVS, 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"><span class="text-primary">●</span> rs267608183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267608183;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/rs267608183?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=rs267608183" 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=rs267608183" 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=RCV000007172 OR RCV000519441 OR RCV000817369 OR RCV000983989 OR RCV001174563 OR RCV001273137 OR RCV002476939" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007172, RCV000519441, RCV000817369, RCV000983989, RCV001174563, RCV001273137, RCV002476939" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007172...</a>
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<p>In a patient (PBD100) with Zellweger syndrome of complementation group 7 (PBD6A; <a href="/entry/614870">614870</a>), <a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> found homozygosity for a splice donor-site mutation in the PEX10 gene that resulted in exon skipping and loss of 407 bp from the PEX10 open reading frame. The change was a G-to-A transition in the first position of the splice-donor site in an intron that lies downstream from a 407-bp exon. This mutation corresponded to a C-to-T transition at a CpG dinucleotide on the antisense strand. The homozygous nature of this allele, which destroyed an SnaBI site, was confirmed by restriction enzyme digestion of an amplified genomic DNA fragment spanning the mutation. The PEX10-deficient cells of this patient contained many peroxisomes and imported peroxisomal membrane proteins but did not import peroxisomal matrix proteins, indicating that the loss of PEX10 has its most pronounced effect on peroxisomal matrix protein import. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" 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="0002" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0002 PEROXISOME BIOGENESIS DISORDER 6B</strong>
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PEX10, HIS290GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs61752095 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752095;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=rs61752095" 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=rs61752095" 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=RCV000007173" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007173" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007173</a>
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<span class="mim-text-font">
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<p>In a mildly affected patient (PBD052) with neonatal adrenoleukodystrophy (see PBD6B, <a href="/entry/614871">614871</a>), <a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> found compound heterozygosity for mutations in the PEX10 gene: a C-G transversion resulting in a his290-to-gln (H290Q) substitution in the zinc-binding domain, and a C-T transition resulting in an arg125-to-ter (R125X; <a href="#0003">602859.0003</a>) substitution. The 2 alleles encoded partially functional PEX10 proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" 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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 PEROXISOME BIOGENESIS DISORDER 6B</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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PEX10, ARG125TER
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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">rs61750434 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61750434;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=rs61750434" 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=rs61750434" 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=RCV000007174 OR RCV000670577 OR RCV001058978 OR RCV002222345 OR RCV003472994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007174, RCV000670577, RCV001058978, RCV002222345, RCV003472994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007174...</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the arg125-to-ter (R125X) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with neonatal adrenoleukodystrophy (see PBD6B, <a href="/entry/614871">614871</a>) by <a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a>, see <a href="#0002">602859.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
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PEX10, 2-BP DEL, 814CT
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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> rs61752093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752093;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/rs61752093?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=rs61752093" 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=rs61752093" 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=RCV000409050 OR RCV000411962 OR RCV000590803 OR RCV000727676 OR RCV000800883 OR RCV001272085 OR RCV002502176" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000409050, RCV000411962, RCV000590803, RCV000727676, RCV000800883, RCV001272085, RCV002502176" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000409050...</a>
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<span class="mim-text-font">
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<p>In cells from a patient with Zellweger syndrome of complementation group 7 (PBD6A; <a href="/entry/614870">614870</a>), <a href="#4" class="mim-tip-reference" title="Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y. <strong>Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.</strong> Hum. Molec. Genet. 7: 1399-1405, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700193</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700193">Okumoto et al. (1998)</a> found homozygosity for an inactivating mutation, a 2-bp deletion at nucleotides 814 and 815 (CT). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The only diagnostic center for PBDs in Japan identified a total of 31 Japanese patients with PBD during the 20 years previous to the report of <a href="#6" class="mim-tip-reference" title="Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., Kondo, N. <strong>Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.</strong> Am. J. Med. Genet. 120A: 40-43, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794690</a>] [<a href="https://doi.org/10.1002/ajmg.a.20030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794690">Shimozawa et al. (2003)</a>. There were 27 patients with Zellweger syndrome, including 2 sibs, 3 with neonatal adrenoleukodystrophy (NALD; see <a href="/entry/601539">601539</a>), and 1 with rhizomelic chondrodysplasia punctata (RCDP; see <a href="/entry/215100">215100</a>). No patient with infantile Refsum disease (IRD; see <a href="/entry/601539">601539</a>) had been detected. All 11 patients with Zellweger syndrome of complementation group B had the same mutation, the homozygous 2-bp deletion in PEX10: 814-815delCT. Analysis of single-nucleotide polymorphisms (SNPs) within PEX10 showed that the mutation probably arose once on an ancestral chromosome in the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794690" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
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</span>
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<span class="mim-text-font">
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PEROXISOME BIOGENESIS DISORDER 6B, INCLUDED
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PEX10, 1 BP-INS, 704A
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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> rs61750435 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61750435;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/rs61750435?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=rs61750435" 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=rs61750435" 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=RCV000007176 OR RCV000149808 OR RCV000324305 OR RCV000644606 OR RCV000781707 OR RCV001273135 OR RCV004751207 OR RCV005007833" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007176, RCV000149808, RCV000324305, RCV000644606, RCV000781707, RCV001273135, RCV004751207, RCV005007833" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007176...</a>
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<p>In a patient (PBD117) with Zellweger syndrome (PBD6A; <a href="/entry/614870">614870</a>), <a href="#10" class="mim-tip-reference" title="Warren, D. S., Wolfe, B. D., Gould, S. J. <strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong> Hum. Mutat. 15: 509-521, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10862081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10862081</a>] [<a href="https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10862081">Warren et al. (2000)</a> found compound heterozygosity for an A insertion following nucleotide 704 in exon 4 of the PEX10 cDNA and a deletion/insertion/frameshift mutation (<a href="#0006">602859.0006</a>) in exon 1 of the genome DNA, resulting in loss of nucleotides 13 to 28 of the open reading frame and replacement of these 16 basepairs by a 20-bp insertion. The product of the second allele contained the first 4 amino acids of PEX10 followed by an additional 46 residues and a termination codon; there was no evidence of PEX10 mRNA expression from the second allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10862081" 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 an 8.5-year-old boy with PBD6B (<a href="/entry/614871">614871</a>) manifest as cerebellar ataxia, <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a> identified compound heterozygous mutations in the PEX10 gene: a 1-bp insertion (c.764_765insA), resulting in a frameshift and premature termination, and a c.992G-A transition, resulting in an arg331-to-gln (R331Q; <a href="#0009">602859.0009</a>) substitution at a highly conserved residue in the last amino acid in the RING finger domain. Functional studies of the variants were not performed. <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a> stated that the c.764_765insA mutation was the same as the 1-bp insertion mutation identified by <a href="#9" class="mim-tip-reference" title="Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. <strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong> Am. J. Hum. Genet. 63: 347-359, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>] [<a href="https://doi.org/10.1086/301963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683594">Warren et al. (1998)</a> in patient PBD117. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9683594+20695019" 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>For discussion of the splice site mutation in the PEX10 gene that was found in compound heterozygous state in a patient with Zellweger syndrome (PBD6A; <a href="/entry/614870">614870</a>) by <a href="#10" class="mim-tip-reference" title="Warren, D. S., Wolfe, B. D., Gould, S. J. <strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong> Hum. Mutat. 15: 509-521, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10862081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10862081</a>] [<a href="https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10862081">Warren et al. (2000)</a>, see <a href="#0005">602859.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10862081" 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">rs724159999 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159999;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=rs724159999" 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=rs724159999" 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=RCV000149809 OR RCV003474798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149809, RCV003474798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149809...</a>
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<p>In a young woman (PBD687) with a mild form of peroxisome biogenesis disorder 6B (PBD6B; <a href="/entry/614871">614871</a>) manifest mainly as ataxia and nystagmus beginning in early childhood, previously reported by <a href="#2" class="mim-tip-reference" title="Clayton, P. T., Johnson, A. W., Mills, K. A., Lynes, G. W., Wilson, J., Casteels, M., Mannaerts, G. <strong>Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.</strong> J. Inherit. Metab. Dis. 19: 761-768, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8982949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8982949</a>] [<a href="https://doi.org/10.1007/BF01799170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8982949">Clayton et al. (1996)</a>, <a href="#7" class="mim-tip-reference" title="Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W. <strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong> J. Inherit. Metab. Dis. 32: 109-119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19127411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19127411</a>] [<a href="https://doi.org/10.1007/s10545-008-0969-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19127411">Steinberg et al. (2009)</a> identified compound heterozygous mutations in the PEX10 gene: a 1-bp deletion (c.337delC) resulting in a frameshift (Leu113fs) and premature termination at a codon 39 amino acids downstream, inherited from his unaffected father, and a c.890T-C transition, resulting in a leu297-to-pro (L297P; <a href="#0008">602859.0008</a>) substitution that apparently occurred de novo on the maternal allele. A c.880A-G transition resulting in a thr294-to-ala (T294A) substitution was also found on the paternal allele. The L297P substitution occurred at a highly conserved residue in the C3HC4 domain. In vitro studies of patient cultured fibroblasts showed no defects in peroxisome metabolism or assembly, but the patient had persistently increased plasma pipecolic acid as well as increased serum bile acid precursors, indicating impaired beta-oxidation of bile acid intermediates and consistent with a generalized defect in peroxisome assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19127411+8982949" 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">rs724160000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724160000;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=rs724160000" 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=rs724160000" 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=RCV000149810 OR RCV000675117 OR RCV001206752 OR RCV003133148 OR RCV003474799" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149810, RCV000675117, RCV001206752, RCV003133148, RCV003474799" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149810...</a>
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<p>For discussion of the leu297-to-pro (L297P) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with a mild form of peroxisome biogenesis disorder 6B (PBD6B; <a href="/entry/614871">614871</a>) by <a href="#7" class="mim-tip-reference" title="Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W. <strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong> J. Inherit. Metab. Dis. 32: 109-119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19127411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19127411</a>] [<a href="https://doi.org/10.1007/s10545-008-0969-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19127411">Steinberg et al. (2009)</a>, see <a href="#0007">602859.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19127411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs724160001 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724160001;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/rs724160001?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=rs724160001" 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=rs724160001" 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=RCV000149811 OR RCV000675089 OR RCV000728635 OR RCV001246837 OR RCV003474800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149811, RCV000675089, RCV000728635, RCV001246837, RCV003474800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149811...</a>
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<p>For discussion of the arg331-to-gln (R331Q) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder 6B (PBD6B; <a href="/entry/614871">614871</a>) by <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a>, see <a href="#0005">602859.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20695019" 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">rs724160002 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724160002;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=rs724160002" 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=rs724160002" 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=RCV000149812 OR RCV000665679 OR RCV001850029 OR RCV003155088" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149812, RCV000665679, RCV001850029, RCV003155088" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149812...</a>
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<p>In a 21-year-old male with peroxisome biogenesis disorder 6B (PBD6B; <a href="/entry/614871">614871</a>) manifest as childhood-onset cerebellar ataxia, <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a> identified compound heterozygous mutations in the PEX10 gene: a c.2T-C transition, resulting in abolishment of the initiation codon, and a c.790C-T transition, resulting in an arg264-to-ter (R264X; <a href="#0011">602859.0011</a>) substitution that would truncate the protein before the RING finger domain. Each unaffected parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20695019" 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>.0011 PEROXISOME BIOGENESIS DISORDER 6B</strong>
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PEX10, ARG264TER
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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> rs61752092 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs61752092;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/rs61752092?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=rs61752092" 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=rs61752092" 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=RCV000149813 OR RCV000666851 OR RCV000677268 OR RCV001208724 OR RCV001831930 OR RCV001844050" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149813, RCV000666851, RCV000677268, RCV001208724, RCV001831930, RCV001844050" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149813...</a>
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<p>For discussion of the arg264-to-ter (R264X) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder 6B (PBD6B; <a href="/entry/614871">614871</a>) by <a href="#5" class="mim-tip-reference" title="Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R. <strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong> Ann. Neurol. 68: 259-263, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>] [<a href="https://doi.org/10.1002/ana.22035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20695019">Regal et al. (2010)</a>, see <a href="#0010">602859.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20695019" 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>.0012 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
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PEX10, ARG244TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000149813 OR RCV000666851 OR RCV000677268 OR RCV001208724 OR RCV001831930 OR RCV001844050" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149813, RCV000666851, RCV000677268, RCV001208724, RCV001831930, RCV001844050" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149813...</a>
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<p>In a Turkish male infant (PBD-HR7) with rapidly progressive Zellweger syndrome (PBD6A; <a href="/entry/614870">614870</a>), who died on day 4 of life, <a href="#3" class="mim-tip-reference" title="Krause, C., Rosewich, H., Thanos, M., Gartner, J. <strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong> Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>] [<a href="https://doi.org/10.1002/humu.9462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041890">Krause et al. (2006)</a> identified a homozygous c.730C-T transition (c.730C-T, NM_002617.3) in the PEX10 gene, predicting an arg244-to-ter (R244X) substitution and either complete or partial lack of the zinc-binding RING finger domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="Chen2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chen, H., Liu, Z., Huang, X.
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<strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong>
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Hum. Molec. Genet. 19: 494-505, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19933170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19933170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19933170" 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/ddp518" target="_blank">Full Text</a>]
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<a id="Clayton1996" class="mim-anchor"></a>
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Clayton, P. T., Johnson, A. W., Mills, K. A., Lynes, G. W., Wilson, J., Casteels, M., Mannaerts, G.
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<strong>Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.</strong>
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J. Inherit. Metab. Dis. 19: 761-768, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8982949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8982949</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8982949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799170" target="_blank">Full Text</a>]
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<a id="Krause2006" class="mim-anchor"></a>
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Krause, C., Rosewich, H., Thanos, M., Gartner, J.
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<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
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Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.9462" target="_blank">Full Text</a>]
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<a id="Okumoto1998" class="mim-anchor"></a>
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Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y.
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<strong>Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.</strong>
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Hum. Molec. Genet. 7: 1399-1405, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700193" 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/7.9.1399" target="_blank">Full Text</a>]
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<a id="Regal2010" class="mim-anchor"></a>
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Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R.
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<strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong>
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Ann. Neurol. 68: 259-263, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20695019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20695019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20695019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.22035" target="_blank">Full Text</a>]
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<a id="Shimozawa2003" class="mim-anchor"></a>
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Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., Kondo, N.
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<strong>Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.</strong>
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Am. J. Med. Genet. 120A: 40-43, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20030" target="_blank">Full Text</a>]
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<a id="Steinberg2009" class="mim-anchor"></a>
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Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W.
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<strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong>
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J. Inherit. Metab. Dis. 32: 109-119, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19127411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19127411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19127411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10545-008-0969-8" target="_blank">Full Text</a>]
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<a id="Stumpf2024" class="mim-anchor"></a>
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<div class="">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 06/06/2024.
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<a id="Warren1998" class="mim-anchor"></a>
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Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J.
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<strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong>
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Am. J. Hum. Genet. 63: 347-359, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683594" 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/10.1086/301963" target="_blank">Full Text</a>]
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</p>
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<a id="10" class="mim-anchor"></a>
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<a id="Warren2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warren, D. S., Wolfe, B. D., Gould, S. J.
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<strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong>
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Hum. Mutat. 15: 509-521, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10862081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10862081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10862081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 06/06/2024
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<span class="mim-text-font">
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Joanna S. Amberger - updated : 08/13/2018<br>Cassandra L. Kniffin - updated : 1/2/2015<br>George E. Tiller - updated : 1/5/2011<br>Victor A. McKusick - updated : 6/23/2003<br>Victor A. McKusick - updated : 6/30/2000<br>Victor A. McKusick - updated : 9/17/1998
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/17/1998
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 06/06/2024
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<span class="mim-text-font">
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carol : 08/13/2018<br>alopez : 07/22/2015<br>mcolton : 6/26/2015<br>carol : 1/12/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/2/2015<br>alopez : 10/25/2012<br>alopez : 10/24/2012<br>wwang : 1/18/2011<br>terry : 1/5/2011<br>alopez : 3/17/2004<br>carol : 11/11/2003<br>cwells : 6/26/2003<br>terry : 6/23/2003<br>mcapotos : 7/17/2000<br>mcapotos : 7/13/2000<br>terry : 6/30/2000<br>carol : 12/14/1998<br>carol : 9/21/1998<br>terry : 9/17/1998<br>terry : 8/5/1998<br>alopez : 8/4/1998<br>alopez : 7/17/1998<br>alopez : 7/17/1998
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<span class="mim-font">
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<strong>*</strong> 602859
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PEROXISOME BIOGENESIS FACTOR 10; PEX10
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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PEROXIN 10
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PEX10</em></strong>
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<strong>
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<em>
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Cytogenetic location: 1p36.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:2,403,974-2,413,827 </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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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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1p36.32
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Peroxisome biogenesis disorder 6A (Zellweger)
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<span class="mim-font">
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614870
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Peroxisome biogenesis disorder 6B
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<span class="mim-font">
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614871
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Autosomal 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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<h4>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Warren et al. (1998) identified the human ortholog of yeast PEX10. Okumoto et al. (1998) isolated a human PEX10 cDNA by an expressed sequence tag (EST) homology search of a human DNA database using yeast Pex10 from Hansenula polymorpha, followed by screening of a human liver cDNA library. This cDNA encodes a peroxisomal protein comprising 326 amino acids with 2 putative transmembrane segments and a C3HC4 zinc finger RING motif. Both the N- and C-terminal regions of the PEX10 protein are exposed to the cytosol, as assessed by an expression study of epitope-tagged PEX10 protein. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Stumpf (2024) mapped the PEX10 gene to chromosome 1p36.32 based on an alignment of the PEX10 sequence (GenBank AK124816) with the genomic sequence (GRCh38).</p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p><strong><em>Peroxisome Biogenesis Disorder 6A (Zellweger)</em></strong></p><p>
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The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities and severe mental retardation; in their most severe form, death occurs within the first year of life. Cells from all PBD patients exhibit decreased import of one or more classes of peroxisome matrix proteins, a phenotype shared by yeast Pex mutants. Warren et al. (1998) observed that Pex10 expression rescued peroxisomal matrix-protein import in PBD patients' fibroblasts from complementation group 7 (CG7). In addition, they detected mutations on both copies of PEX10 in 2 unrelated CG7 patients. A Zellweger syndrome (PBD6A; 614870) patient was homozygous for a donor splice site mutation (602859.0001). </p><p>Okumoto et al. (1998) showed that PEX10 expression morphologically and biochemically restored peroxisome biogenesis in fibroblasts from Zellweger patients of the complementation group called B in Japan and 7 in the U.S. One patient was found to be homozygous for an inactivating mutation, a 2-bp deletion immediately upstream of the RING motif, which resulted in a frameshift, altering 65 amino acids from the normal (602859.0004). This implied that the C-terminal part, including the RING finger, is required for biologic function of the PEX10 protein. PEX10 cDNA derived from the patient with the mutation was defective in peroxisome-restoring activity when expressed in patient fibroblasts. </p><p><strong><em>Peroxisome Biogenesis Disorder 6B</em></strong></p><p>
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Warren et al. (1998) found that a patient with PBD6B (614871), a phenotype milder than Zellweger syndrome and more consistent with neonatal adrenoleukodystrophy, was compound heterozygous for a missense mutation (H290Q; 602859.0002) and a nonsense mutation (R125X; 602859.0003) in the PEX10 gene. </p><p>In a young woman (PBD687) with a mild form of PBD6B manifest as cerebellar ataxia, previously reported by Clayton et al. (1996), Steinberg et al. (2009) identified compound heterozygous mutations in the PEX10 gene (602859.0007 and 602859.0008). Steinberg et al. (2009) noted the mild and atypical phenotype associated with the peroxisome disorder in this patient. Functional studies of the variants were not performed. </p><p>In 2 unrelated patients with PBD6B manifest as childhood-onset cerebellar ataxia and neuropathy, Regal et al. (2010) identified compound heterozygous mutations in the PEX10 gene (602859.0005; 602859.0009-602859.0011). Functional studies of the variants were not performed, but transfection of patient fibroblasts with wildtype PEX10 rescued the mildly abnormal peroxisome phenotype. </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>Genotype/Phenotype Correlations</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>Warren et al. (2000) reported phenotype-genotype correlations in patients with PEX10-deficient peroxisome biogenesis disorder. All 4 PEX10-deficient Zellweger syndrome patients were found to have nonsense, frameshift, or splice site mutations that removed large portions of the PEX10 coding region. In contrast, a more mildly affected PEX10-deficient neonatal adrenoleukodystrophy patient expressed a PEX10 allele with a missense mutation, H290Q (602859.0002), affecting the C-terminal zinc-binding domain of the PEX10 product. These results supported the hypothesis that severe loss-of-function mutations in PEX genes cause more severe clinical phenotypes, whereas mildly affected PBD patients have PEX gene mutations that retain residual function. </p><p>To quantitate the effects of PEX10 mutations, Warren et al. (2000) used a functional complementation assay. They observed that nonsense and frameshift mutations predicted to delete the C-terminal two-thirds (R125X; 602859.0003) or one-third (704insA) of the protein displayed nearly normal PEX10 activity. They also found that the unexpectedly high PEX10 activity displayed by these cDNAs could be eliminated by removing or mutating segments of the PEX10 cDNA downstream of the mutations. Although these results demonstrated serious flaws in the PEX10 functional complementation assay, they suggested that the C-terminal zinc-binding domain is critical for PEX10 function. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chen et al. (2010) reported that Drosophila pex mutants, including Pex2 (170993), Pex10, and Pex12 (601758), faithfully recapitulated several key features of human PBD, including impaired peroxisomal protein import, elevated very long chain fatty acid (VLCFA) levels, and growth retardation. Moreover, disruption of pex function resulted in spermatogenesis defects, including spermatocyte cytokinesis failure in Drosophila. Increased VLCFA levels enhanced these spermatogenesis defects whereas reduced VLCFA levels alleviated them. Chen et al. (2010) concluded that regulation of proper VLCFA levels by pex genes is crucial for spermatogenesis. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>12 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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</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>.0001 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</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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PEX10, IVS, G-A, +1
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<br />
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SNP: rs267608183,
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gnomAD: rs267608183,
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ClinVar: RCV000007172, RCV000519441, RCV000817369, RCV000983989, RCV001174563, RCV001273137, RCV002476939
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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 (PBD100) with Zellweger syndrome of complementation group 7 (PBD6A; 614870), Warren et al. (1998) found homozygosity for a splice donor-site mutation in the PEX10 gene that resulted in exon skipping and loss of 407 bp from the PEX10 open reading frame. The change was a G-to-A transition in the first position of the splice-donor site in an intron that lies downstream from a 407-bp exon. This mutation corresponded to a C-to-T transition at a CpG dinucleotide on the antisense strand. The homozygous nature of this allele, which destroyed an SnaBI site, was confirmed by restriction enzyme digestion of an amplified genomic DNA fragment spanning the mutation. The PEX10-deficient cells of this patient contained many peroxisomes and imported peroxisomal membrane proteins but did not import peroxisomal matrix proteins, indicating that the loss of PEX10 has its most pronounced effect on peroxisomal matrix protein import. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
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<span class="mim-font">
|
|
<strong>.0002 PEROXISOME BIOGENESIS DISORDER 6B</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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PEX10, HIS290GLN
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<br />
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|
SNP: rs61752095,
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ClinVar: RCV000007173
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a mildly affected patient (PBD052) with neonatal adrenoleukodystrophy (see PBD6B, 614871), Warren et al. (1998) found compound heterozygosity for mutations in the PEX10 gene: a C-G transversion resulting in a his290-to-gln (H290Q) substitution in the zinc-binding domain, and a C-T transition resulting in an arg125-to-ter (R125X; 602859.0003) substitution. The 2 alleles encoded partially functional PEX10 proteins. </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">
|
|
<strong>.0003 PEROXISOME BIOGENESIS DISORDER 6B</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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PEX10, ARG125TER
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<br />
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SNP: rs61750434,
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ClinVar: RCV000007174, RCV000670577, RCV001058978, RCV002222345, RCV003472994
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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>For discussion of the arg125-to-ter (R125X) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with neonatal adrenoleukodystrophy (see PBD6B, 614871) by Warren et al. (1998), see 602859.0002. </p>
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|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
PEX10, 2-BP DEL, 814CT
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<br />
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SNP: rs61752093,
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gnomAD: rs61752093,
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|
ClinVar: RCV000409050, RCV000411962, RCV000590803, RCV000727676, RCV000800883, RCV001272085, RCV002502176
|
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|
|
</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In cells from a patient with Zellweger syndrome of complementation group 7 (PBD6A; 614870), Okumoto et al. (1998) found homozygosity for an inactivating mutation, a 2-bp deletion at nucleotides 814 and 815 (CT). </p><p>The only diagnostic center for PBDs in Japan identified a total of 31 Japanese patients with PBD during the 20 years previous to the report of Shimozawa et al. (2003). There were 27 patients with Zellweger syndrome, including 2 sibs, 3 with neonatal adrenoleukodystrophy (NALD; see 601539), and 1 with rhizomelic chondrodysplasia punctata (RCDP; see 215100). No patient with infantile Refsum disease (IRD; see 601539) had been detected. All 11 patients with Zellweger syndrome of complementation group B had the same mutation, the homozygous 2-bp deletion in PEX10: 814-815delCT. Analysis of single-nucleotide polymorphisms (SNPs) within PEX10 showed that the mutation probably arose once on an ancestral chromosome in the Japanese population. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
PEROXISOME BIOGENESIS DISORDER 6B, INCLUDED
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, 1 BP-INS, 704A
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|
|
<br />
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|
|
SNP: rs61750435,
|
|
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|
|
|
gnomAD: rs61750435,
|
|
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|
|
|
ClinVar: RCV000007176, RCV000149808, RCV000324305, RCV000644606, RCV000781707, RCV001273135, RCV004751207, RCV005007833
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (PBD117) with Zellweger syndrome (PBD6A; 614870), Warren et al. (2000) found compound heterozygosity for an A insertion following nucleotide 704 in exon 4 of the PEX10 cDNA and a deletion/insertion/frameshift mutation (602859.0006) in exon 1 of the genome DNA, resulting in loss of nucleotides 13 to 28 of the open reading frame and replacement of these 16 basepairs by a 20-bp insertion. The product of the second allele contained the first 4 amino acids of PEX10 followed by an additional 46 residues and a termination codon; there was no evidence of PEX10 mRNA expression from the second allele. </p><p>In an 8.5-year-old boy with PBD6B (614871) manifest as cerebellar ataxia, Regal et al. (2010) identified compound heterozygous mutations in the PEX10 gene: a 1-bp insertion (c.764_765insA), resulting in a frameshift and premature termination, and a c.992G-A transition, resulting in an arg331-to-gln (R331Q; 602859.0009) substitution at a highly conserved residue in the last amino acid in the RING finger domain. Functional studies of the variants were not performed. Regal et al. (2010) stated that the c.764_765insA mutation was the same as the 1-bp insertion mutation identified by Warren et al. (1998) in patient PBD117. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, DEL/INS/FS, NT13
|
|
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|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000007177
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the PEX10 gene that was found in compound heterozygous state in a patient with Zellweger syndrome (PBD6A; 614870) by Warren et al. (2000), see 602859.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PEROXISOME BIOGENESIS DISORDER 6B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, 1-BP DEL, 337C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724159999,
|
|
|
|
|
|
|
|
ClinVar: RCV000149809, RCV003474798
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a young woman (PBD687) with a mild form of peroxisome biogenesis disorder 6B (PBD6B; 614871) manifest mainly as ataxia and nystagmus beginning in early childhood, previously reported by Clayton et al. (1996), Steinberg et al. (2009) identified compound heterozygous mutations in the PEX10 gene: a 1-bp deletion (c.337delC) resulting in a frameshift (Leu113fs) and premature termination at a codon 39 amino acids downstream, inherited from his unaffected father, and a c.890T-C transition, resulting in a leu297-to-pro (L297P; 602859.0008) substitution that apparently occurred de novo on the maternal allele. A c.880A-G transition resulting in a thr294-to-ala (T294A) substitution was also found on the paternal allele. The L297P substitution occurred at a highly conserved residue in the C3HC4 domain. In vitro studies of patient cultured fibroblasts showed no defects in peroxisome metabolism or assembly, but the patient had persistently increased plasma pipecolic acid as well as increased serum bile acid precursors, indicating impaired beta-oxidation of bile acid intermediates and consistent with a generalized defect in peroxisome assembly. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PEROXISOME BIOGENESIS DISORDER 6B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, LEU297PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724160000,
|
|
|
|
|
|
|
|
ClinVar: RCV000149810, RCV000675117, RCV001206752, RCV003133148, RCV003474799
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu297-to-pro (L297P) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with a mild form of peroxisome biogenesis disorder 6B (PBD6B; 614871) by Steinberg et al. (2009), see 602859.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PEROXISOME BIOGENESIS DISORDER 6B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, ARG331GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724160001,
|
|
|
|
|
|
gnomAD: rs724160001,
|
|
|
|
|
|
ClinVar: RCV000149811, RCV000675089, RCV000728635, RCV001246837, RCV003474800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg331-to-gln (R331Q) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder 6B (PBD6B; 614871) by Regal et al. (2010), see 602859.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PEROXISOME BIOGENESIS DISORDER 6B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, MET1?
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs724160002,
|
|
|
|
|
|
|
|
ClinVar: RCV000149812, RCV000665679, RCV001850029, RCV003155088
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 21-year-old male with peroxisome biogenesis disorder 6B (PBD6B; 614871) manifest as childhood-onset cerebellar ataxia, Regal et al. (2010) identified compound heterozygous mutations in the PEX10 gene: a c.2T-C transition, resulting in abolishment of the initiation codon, and a c.790C-T transition, resulting in an arg264-to-ter (R264X; 602859.0011) substitution that would truncate the protein before the RING finger domain. Each unaffected parent was heterozygous for 1 of the mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PEROXISOME BIOGENESIS DISORDER 6B</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, ARG264TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs61752092,
|
|
|
|
|
|
gnomAD: rs61752092,
|
|
|
|
|
|
ClinVar: RCV000149813, RCV000666851, RCV000677268, RCV001208724, RCV001831930, RCV001844050
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg264-to-ter (R264X) mutation in the PEX10 gene that was found in compound heterozygous state in a patient with peroxisome biogenesis disorder 6B (PBD6B; 614871) by Regal et al. (2010), see 602859.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PEX10, ARG244TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000149813, RCV000666851, RCV000677268, RCV001208724, RCV001831930, RCV001844050
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish male infant (PBD-HR7) with rapidly progressive Zellweger syndrome (PBD6A; 614870), who died on day 4 of life, Krause et al. (2006) identified a homozygous c.730C-T transition (c.730C-T, NM_002617.3) in the PEX10 gene, predicting an arg244-to-ter (R244X) substitution and either complete or partial lack of the zinc-binding RING finger domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, H., Liu, Z., Huang, X.
|
|
<strong>Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism.</strong>
|
|
Hum. Molec. Genet. 19: 494-505, 2010.
|
|
|
|
|
|
[PubMed: 19933170]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp518]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clayton, P. T., Johnson, A. W., Mills, K. A., Lynes, G. W., Wilson, J., Casteels, M., Mannaerts, G.
|
|
<strong>Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.</strong>
|
|
J. Inherit. Metab. Dis. 19: 761-768, 1996.
|
|
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|
|
|
[PubMed: 8982949]
|
|
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|
|
[Full Text: https://doi.org/10.1007/BF01799170]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krause, C., Rosewich, H., Thanos, M., Gartner, J.
|
|
<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
|
|
Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 17041890]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.9462]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y.
|
|
<strong>Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.</strong>
|
|
Hum. Molec. Genet. 7: 1399-1405, 1998.
|
|
|
|
|
|
[PubMed: 9700193]
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[Full Text: https://doi.org/10.1093/hmg/7.9.1399]
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Regal, L., Ebberink, M. S., Goemans, N., Wanders, R. J. A., De Meirleir, L., Jaeken, J., Schrooten, M., Van Coster, R., Waterham, H. R.
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<strong>Mutations in PEX10 are a cause of autosomal recessive ataxia.</strong>
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Ann. Neurol. 68: 259-263, 2010.
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[PubMed: 20695019]
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[Full Text: https://doi.org/10.1002/ana.22035]
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Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., Kondo, N.
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<strong>Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.</strong>
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Am. J. Med. Genet. 120A: 40-43, 2003.
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[PubMed: 12794690]
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[Full Text: https://doi.org/10.1002/ajmg.a.20030]
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Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B., Moser, H. W.
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<strong>A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.</strong>
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J. Inherit. Metab. Dis. 32: 109-119, 2009.
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[PubMed: 19127411]
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[Full Text: https://doi.org/10.1007/s10545-008-0969-8]
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 06/06/2024.
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Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J.
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<strong>Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.</strong>
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Am. J. Hum. Genet. 63: 347-359, 1998.
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[PubMed: 9683594]
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[Full Text: https://doi.org/10.1086/301963]
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Warren, D. S., Wolfe, B. D., Gould, S. J.
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<strong>Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.</strong>
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Hum. Mutat. 15: 509-521, 2000.
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[PubMed: 10862081]
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[Full Text: https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#]
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Anne M. Stumpf - updated : 06/06/2024<br>Joanna S. Amberger - updated : 08/13/2018<br>Cassandra L. Kniffin - updated : 1/2/2015<br>George E. Tiller - updated : 1/5/2011<br>Victor A. McKusick - updated : 6/23/2003<br>Victor A. McKusick - updated : 6/30/2000<br>Victor A. McKusick - updated : 9/17/1998
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Victor A. McKusick : 7/17/1998
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