5836 lines
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Entry
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- *603824 - UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
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- OMIM
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<p>
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<span class="h4">*603824</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/603824">Table View</a>
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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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<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 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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<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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<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=ENSG00000159921;t=ENST00000642385" 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=10020" 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=603824" 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 id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000159921;t=ENST00000642385" 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_001128227,NM_001190383,NM_001190384,NM_001190388,NM_001374797,NM_001374798,NM_005476,XM_005251334,XM_017014167" 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_005476" 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=603824" 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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<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=04825&isoform_id=04825_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/GNE" 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/4775362,4885285,4887658,5031510,11139287,45360233,45360235,45360237,45476991,111309277,119578711,119578712,119578713,150368575,150368577,156186265,189069100,190014632,221040814,221041474,221042742,298566312,298566315,530389634,1034663430,1765945226,1765945268,1765945280,2462622051,2462622053" 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/Q9Y223" 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=10020" 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=ENSG00000159921;t=ENST00000642385" 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=GNE" 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=GNE" 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+10020" 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/GNE" 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:10020" 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/10020" 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=chr9&hgg_gene=ENST00000396594.8&hgg_start=36214441&hgg_end=36276978&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 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:23657" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gne" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603824[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=603824[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GNE/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000159921" 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=GNE" 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=GNE" 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=GNE" 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.LOVD.nl/GNE" 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=GNE&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/PA134987566" 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:23657" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1354951" 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/GNE#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:1354951" 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/10020/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=10020" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1848" 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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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|
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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:10020" 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=GNE&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238051008, 702382000<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
603824
|
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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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UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLCNE
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GNE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GNE</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/187?start=-3&limit=10&highlight=187">9p13.3</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:36214441-36276978&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'})">9:36,214,441-36,276,978</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=605820,269921,620757" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/187?start=-3&limit=10&highlight=187">
|
|
9p13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Nonaka myopathy
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/605820"> 605820 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Sialuria
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/269921"> 269921 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombocytopenia 12 with or without myopathy
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<a href="/entry/620757"> 620757 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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<p>The GNE gene encodes UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase; <a href="https://enzyme.expasy.org/EC/5.1.3.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 5.1.3.14</a>)/N-acetylmannosamine kinase (ManNAc kinase; <a href="https://enzyme.expasy.org/EC/2.7.1.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.1.60</a>), a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids (<a href="#10" class="mim-tip-reference" title="Hinderlich, S., Stasche, R., Zeitler, R., Reutter, W. <strong>A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.</strong> J. Biol. Chem. 272: 24313-24318, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9305887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9305887</a>] [<a href="https://doi.org/10.1074/jbc.272.39.24313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9305887">Hinderlich et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9305887" 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>Sialic acid modification of glycoproteins and glycolipids expressed at the cell surface is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. GNE is the rate-limiting enzyme in the sialic acid biosynthetic pathway (<a href="#16" class="mim-tip-reference" title="Keppler, O. T., Hinderlich, S., Langner, J., Schwartz-Albiez, R., Reutter, W., Pawlita, M. <strong>UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.</strong> Science 284: 1372-1376, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10334995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10334995</a>] [<a href="https://doi.org/10.1126/science.284.5418.1372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10334995">Keppler et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10334995" 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="#28" class="mim-tip-reference" title="Stasche, R., Hinderlich, S., Weise, C., Effertz, K., Lucka, L., Moormann, P., Reutter, W. <strong>A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase.</strong> J. Biol. Chem. 272: 24319-24324, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9305888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9305888</a>] [<a href="https://doi.org/10.1074/jbc.272.39.24319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9305888">Stasche et al. (1997)</a> isolated rat cDNAs encoding the UDP-N-acetylglucosamine 2-epimerase. Secreting organs, such as liver, salivary glands, and intestinal mucosa, showed high UDP-GlcNAc 2-epimerase/ManNAc kinase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9305888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Keppler, O. T., Hinderlich, S., Langner, J., Schwartz-Albiez, R., Reutter, W., Pawlita, M. <strong>UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.</strong> Science 284: 1372-1376, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10334995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10334995</a>] [<a href="https://doi.org/10.1126/science.284.5418.1372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10334995">Keppler et al. (1999)</a> determined that UDP-GlcNAc 2-epimerase activity is rate-limiting for the biosynthesis of sialic acid and is required for sialylation in hematopoietic cells. The activity of the enzyme can be controlled at the transcriptional level and can affect the sialylation and function of specific cell surface molecules expressed on B cells and myeloid cells. In a Genbank submission (<a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AJ238764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AJ238764</a>), these authors reported the sequence of a human UDP-GlcNAc 2-epimerase cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10334995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Tomimitsu, H., Shimizu, J., Ishikawa, K., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.</strong> Neurology 62: 1607-1610, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136692</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123115.23652.6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136692">Tomimitsu et al. (2004)</a> identified 2 isoforms of GNE: a longer form, comprising 556 bp, and a shorter form, with exon 4 missing and comprising 403 bp. The shorter isoform was predominantly expressed in skeletal muscle, whereas the longer isoform was predominantly expressed in all other tissues. The shorter isoform was expressed in skeletal muscle of both controls and patients with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), with no difference between the 2 groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136692" 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 GNE gene is highly expressed in hematopoietic progenitor cells, including platelets (summary by <a href="#8" class="mim-tip-reference" title="Futterer, J., Dalby, A., Lowe, G. C., Johnson, B., Simpson, M. A., Motwani, J., Williams, M., Watson, S. P., Morgan, N. V. <strong>Mutation in GNE is associated with severe congenital thrombocytopenia.</strong> Blood 132: 1855-1858, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29941673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29941673</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29941673[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2018-04-847798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29941673">Futterer et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29941673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> stated that the GNE gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> noted that 8 GNE splice variants had been identified to that time. They noted that for mutation annotation purposes, 2 major transcripts are relevant: variant 2 (the originally described GNE protein), which encodes 722 amino acids, and variant 1 (the longest mRNA transcript), which encodes 753 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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>By analysis of a mouse-human cell hybrid panel, <a href="#12" class="mim-tip-reference" title="Huizing, M., Anikster, Y. <strong>Personal Communication.</strong> Bethesda, Md. 1/10/2000."None>Huizing and Anikster (2000)</a> assigned the gene that is mutant in sialuria to chromosome 9p12-p11.</p>
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Sialuria (<a href="/entry/269921">269921</a>) is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free NeuAc. Overproduction of NeuAc was believed to result from loss of feedback inhibition of UDP-GlcNAc 2-epimerase by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac). To elucidate the molecular mechanism for defective allosteric regulation of UDP-GlcNAc 2-epimerase in this disease, <a href="#27" class="mim-tip-reference" title="Seppala, R., Lehto, V.-P., Gahl, W. A. <strong>Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.</strong> Am. J. Hum. Genet. 64: 1563-1569, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330343</a>] [<a href="https://doi.org/10.1086/302411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330343">Seppala et al. (1999)</a> cloned and sequenced the human cDNA encoding the epimerase and determined the mutations in 3 sialuria patients. Three heterozygous mutations, arg266 to trp (<a href="#0001">603824.0001</a>), arg266 to gln (<a href="#0002">603824.0002</a>), and arg263 to leu (<a href="#0003">603824.0003</a>), indicated that the allosteric site of the epimerase resides in the region of codons 263 to 266. The absence of any symptoms in the parents of the affected children indicated that the base changes represented new mutations. Parental DNA was not available for direct analysis. The heterozygous nature of the mutant allele in all 3 patients demonstrated dominant inheritance of sialuria, i.e., heterozygosity for a mutation in the allosteric site is sufficient to cause the disorder. In this case, the mutant epimerase activity continues to produce free sialic acid and CMP-Neu5Ac, which inhibits the normal but not the mutant epimerase. With no brake on the rate-limiting step in sialic acid production, intracellular free sialic acid levels increase indefinitely, leading to the clinical and laboratory findings of sialuria. Dominant inheritance has also been reported in the syndrome of hyperinsulinism and hyperammonemia, in which GTP fails to feedback-inhibit glutamate dehydrogenase (<a href="/entry/138130">138130</a>) because of mutations affecting the enzyme's allosteric site (see <a href="/entry/138130#0003">138130.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330343" 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="Arnadottir, G. A., Oddsson, A., Jensson, B. L., Gisladottir, S., Simon, M. T., Arnthorsson, A. O., Katrinardottir, H., Fridriksdottir, R., Ivarsdottir, E. V., Jonasdottir, A., Jonasdottir, A., Barrick, R., 21 others. <strong>Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.</strong> Nature Commun. 13: 705, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35121750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35121750</a>] [<a href="https://doi.org/10.1038/s41467-022-28330-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35121750">Arnadottir et al. (2022)</a> identified a homozygous missense mutation (c.1132G-T, NM_005476.5, D378Y) in the GNE gene in an Icelandic infant who died shortly after birth with acidosis, a ventricular septal defect, micro-Ebstein anomaly (see <a href="/entry/224700">224700</a>), and polysplenia. The mutation was found by analyzing whole-genome data from a large cohort of over 153,054 adult Icelandic individuals for a deficit of carriers of homozygous missense variants in different genes. The affected individual was then identified from a clinical cohort of Icelandic patients with various disorders who had undergone whole-genome sequencing. The authors noted that homozygosity for the D378Y mutation had not previously been reported. Among 9 Icelandic couples in which both healthy individuals carried a heterozygous D378Y mutation, 6 women (66.7%) had a medical history of miscarriage, which is significantly higher than the 26.7% rate of miscarriage among Icelandic women in the general population (OR of 6.0). <a href="#4" class="mim-tip-reference" title="Arnadottir, G. A., Oddsson, A., Jensson, B. L., Gisladottir, S., Simon, M. T., Arnthorsson, A. O., Katrinardottir, H., Fridriksdottir, R., Ivarsdottir, E. V., Jonasdottir, A., Jonasdottir, A., Barrick, R., 21 others. <strong>Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.</strong> Nature Commun. 13: 705, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35121750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35121750</a>] [<a href="https://doi.org/10.1038/s41467-022-28330-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35121750">Arnadottir et al. (2022)</a> suggested that homozygosity for the D378Y mutation causes a reduction in sialic acid production that is below the critical sialylation threshold necessary for early human development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35121750" 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>Nonaka Myopathy</em></strong></p><p>
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Nonaka myopathy (NM; <a href="/entry/605820">605820</a>) affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. The disorder was first described in Japanese by <a href="#24" class="mim-tip-reference" title="Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. <strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong> J. Neurol. Sci. 51: 141-155, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7252518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7252518</a>] [<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7252518">Nonaka et al. (1981)</a>, and designated distal myopathy with rimmed vacuoles (DMRV), and later in Jews of Persian descent by <a href="#2" class="mim-tip-reference" title="Argov, A., Yarom, R. <strong>'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews.</strong> J. Neurol. Sci. 64: 33-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6737002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6737002</a>] [<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6737002">Argov and Yarom (1984)</a>, and designated hereditary inclusion body myopathy (HIBM). Originally thought to be separate disorders, they were both found to be caused by mutation in the GNE gene and were eventually determined to be the same (<a href="#23" class="mim-tip-reference" title="Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishiyama, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I. <strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.</strong> Neurology 59: 1689-1693, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473753</a>] [<a href="https://doi.org/10.1212/01.wnl.0000041631.28557.c6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473753">Nishino et al., 2002</a>; <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12177386+7252518+12473753+6737002" 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 affected individuals with NM from 47 Middle Eastern families, <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> identified the same homozygous missense mutation in the GNE gene (M712T; <a href="#0005">603824.0005</a>). In affected individuals in families of other ethnic origins, they identified distinct compound heterozygous mutations in GNE (<a href="#0006">603824.0006</a>-<a href="#0011">603824.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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="#15" class="mim-tip-reference" title="Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. <strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong> J. Hum. Genet. 47: 77-79, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916006</a>] [<a href="https://doi.org/10.1007/s100380200004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916006">Kayashima et al. (2002)</a> performed sequence and haplotype analysis of the GNE gene in 2 sibs with NM and demonstrated compound heterozygosity for 2 missense mutations (<a href="/entry/603284#0012">603284.0012</a>, <a href="/entry/603284#0013">603284.0013</a>) in both. Their parents and a normal elder brother were all carriers for one or the other of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916006" 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>Among 33 Japanese patients and 1 patient of German and Irish ancestry with NM, <a href="#23" class="mim-tip-reference" title="Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishiyama, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I. <strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.</strong> Neurology 59: 1689-1693, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473753</a>] [<a href="https://doi.org/10.1212/01.wnl.0000041631.28557.c6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473753">Nishino et al. (2002)</a> identified homozygous or compound heterozygous mutations in the GNE gene in 27 unrelated patients. An unaffected father of 1 patient had a homozygous mutation that presumably caused disease in other patients. The V572L mutation (<a href="#0013">603824.0013</a>) accounted for 61% of the abnormal alleles in the study, indicating a high frequency of carriers of this mutation in Japan. The authors noted that the patient of German and Irish ancestry had a compound mutation, although not the V572L mutation, indicating that the disorder is not restricted to Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473753" 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 American patient with NM, <a href="#31" class="mim-tip-reference" title="Vasconcelos, O. M., Raju, R., Dalakas, M. C. <strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong> Neurology 59: 1776-1779, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>] [<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473769">Vasconcelos et al. (2002)</a> identified compound heterozygous mutations in the GNE gene (<a href="#0015">603824.0015</a>; <a href="#0017">603824.0017</a>). No mutation in the GNE gene was detected in 11 sporadic patients with inclusion body myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Tomimitsu, H., Shimizu, J., Ishikawa, K., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.</strong> Neurology 62: 1607-1610, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136692</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123115.23652.6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136692">Tomimitsu et al. (2004)</a> identified mutations in the GNE gene in 20 of 22 patients with Nonaka myopathy. Fifteen patients had the V572L mutation, either in homozygous or compound heterozygous state. The authors also identified 7 novel GNE mutations. One patient carried the met712-to-thr mutation (M712T; <a href="#0005">603824.0005</a>), confirming that hereditary inclusion body myopathy and Nonaka myopathy are allelic or identical disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136692" 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="#17" class="mim-tip-reference" title="Kim, B. J., Ki, C.-S., Kim, J.-W., Sung, D. H., Choi, Y.-C., Kim, S. H. <strong>Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.</strong> J. Hum. Genet. 51: 137-140, 2006. Note: Erratum: J. Hum. Genet. 51: 840 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16372135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16372135</a>] [<a href="https://doi.org/10.1007/s10038-005-0338-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16372135">Kim et al. (2006)</a> performed clinical and genetic analysis of 9 unrelated Korean patients suspected of having Nonaka myopathy and found that 8 of the 9 were homozygous or compound heterozygous for mutations in the GNE gene. The allelic frequencies of the V572L and C13S mutations were 68.8% and 12.5%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16372135" 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>Thrombocytopenia 12 With or Without Myopathy</em></strong></p><p>
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In 2 adult Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#14" class="mim-tip-reference" title="Izumi, R., Niihori, T., Suzuki, N., Sasahara, Y., Rikiishi, T., Nishiyama, A., Nishiyama, S., Endo, K., Kato, M., Warita, H., Konno, H., Takahashi, T., Tateyama, M., Nagashima, T., Funayama, R., Nakayama, K., Kure, S., Matsubara, Y., Aoki, Y., Aoki, M. <strong>GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.</strong> Neuromusc. Disord. 24: 1068-1072, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25257349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25257349</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25257349">Izumi et al. (2014)</a> identified compound heterozygous missense mutations in the GNE gene: V603L (<a href="#0013">603824.0013</a>) and G739S (<a href="#0018">603824.0018</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. The authors noted that the V603L mutation in the GNE gene is the most common among the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25257349" 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 9 patients from 3 unrelated families with THC12 without myopathy, <a href="#25" class="mim-tip-reference" title="Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., Lambert, M. P. <strong>GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.</strong> Blood 132: 1851-1854, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30171045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30171045</a>] [<a href="https://doi.org/10.1182/blood-2018-04-845545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30171045">Revel-Vilk et al. (2018)</a> identified homozygous or compound heterozygous mutations in the GNE gene (see, e.g., L517P; <a href="#0019">603824.0019</a>). The patients ranged from 6 to 42 years of age. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30171045" 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 children, each born of consanguineous parents, with THC12 without myopathy, <a href="#5" class="mim-tip-reference" title="Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., and 13 others. <strong>GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.</strong> Haematologica 107: 750-754, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3324/haematol.2021.279689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788986">Bottega et al. (2022)</a> identified homozygous mutations in the GNE gene (V516R, <a href="#0020">603824.0020</a> and T575R, <a href="#0021">603824.0021</a>). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families and were not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression. Patient serum transferrin glycoforms showed higher levels of asialo-, disialo-, and trisialo- forms and decreased tertrasialoforms compared to controls. These findings suggested that the mutations resulted in a partial loss of GNE function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788986" 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 13-year-old boy, born of unrelated parents, with THC12 without myopathy, <a href="#11" class="mim-tip-reference" title="Huang, L., Kondo, Y., Cao, L., Han, J., Li, T., Zuo, B., Yang, F., Li, Y., Ma, Z., Bai, X., Jiang, M., Ruan, C., Xia, L. <strong>Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.</strong> Blood Adv. 8: 991-1001, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38237079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38237079</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38237079[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/bloodadvances.2023011490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38237079">Huang et al. (2024)</a> identified compound heterozygous missense mutations in the GNE gene (C594Y, <a href="#0022">603824.0022</a> and P735R, <a href="#0023">603824.0023</a>). The mutations, which were found by targeted exome sequencing and confirmed by Sanger sequencing, both occurred in the C-terminal ManNAc kinase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38237079" 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="#26" class="mim-tip-reference" title="Schwarzkopf, M., Knobeloch, K.-P., Rohde, E., Hinderlich, S., Wiechens, N., Lucka, L., Horak, I., Reutter, W., Horstkorte, R. <strong>Sialylation is essential for early development in mice.</strong> Proc. Nat. Acad. Sci. 99: 5267-5270, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11929971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11929971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11929971[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.072066199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11929971">Schwarzkopf et al. (2002)</a> reported that inactivation of GNE (which is bifunctional and the key enzyme of sialic acid biosynthesis) by gene targeting in mice caused early embryonic lethality, thereby emphasizing the fundamental role of the enzyme and sialylation during development. The need for the enzyme for a defined sialylation process is exemplified by the polysialylation of the neural cell adhesion molecule in embryonic stem cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11929971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Galeano, B., Klootwijk, R., Manoli, I., Sun, M., Ciccone, C., Darvish, D., Starost, M. F., Zerfas, P. M., Hoffmann, V. J., Hoogstraten-Miller, S., Krasnewich, D. M., Gahl, W. A., Huizing, M. <strong>Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.</strong> J. Clin. Invest. 117: 1585-1594, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17549255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17549255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17549255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI30954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17549255">Galeano et al. (2007)</a> created knockin mice with the M712T Gne mutation and found that homozygous mutants did not survive beyond postnatal day 3. On postnatal day 2, there was significantly decreased Gne activity in muscle but no myopathic features; rather, the homozygous mutant mice had glomerular hematuria, proteinuria, and podocytopathy, with segmental splitting of the glomerular basement membrane, effacement of podocyte foot processes, and reduced sialylation of podocalyxin (see <a href="/entry/602632">602632</a>). With administration of ManNAc, 43% of homozygous mutants survived beyond postnatal day 3, exhibiting improved renal histology, increased sialylation of podocalyxin, and increased Gne expression and activity. <a href="#9" class="mim-tip-reference" title="Galeano, B., Klootwijk, R., Manoli, I., Sun, M., Ciccone, C., Darvish, D., Starost, M. F., Zerfas, P. M., Hoffmann, V. J., Hoogstraten-Miller, S., Krasnewich, D. M., Gahl, W. A., Huizing, M. <strong>Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.</strong> J. Clin. Invest. 117: 1585-1594, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17549255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17549255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17549255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI30954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17549255">Galeano et al. (2007)</a> concluded that M712T Gne-knockin mice provide a novel animal model of hyposialylation-related podocytopathy and segmental splitting of the glomerular basement membrane, demonstrating the significance of sialic acid synthesis in kidney development and function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17549255" 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="#22" class="mim-tip-reference" title="Malicdan, M. C. V., Noguchi, S., Nonaka, I., Hayashi, Y. K., Nishino, I. <strong>A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.</strong> Hum. Molec. Genet. 16: 2669-2682, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704511</a>] [<a href="https://doi.org/10.1093/hmg/ddm220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17704511">Malicdan et al. (2007)</a> generated Gne-deficient mice expressing the human D176V-GNE mutation as a mouse model of distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy (DMRV-HIBM). Complete knockout of the Gne gene was embryonic lethal. Mice with the D176V mutation showed marked hyposialylation in serum, muscle, and other organs. Reduction in motor performance in these mice could only be seen from 30 weeks of age. By 32 weeks, myofibers developed beta-amyloid deposition, which preceded rimmed vacuole formation at 42 weeks. The findings also suggested that hyposialylation plays an important role in the pathomechanism of DMRV-HIBM. <a href="#21" class="mim-tip-reference" title="Malicdan, M. C. V., Noguchi, S., Hayashi, Y. K., Nonaka, I., Nishino, I. <strong>Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.</strong> Nature Med. 15: 690-695, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19448634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19448634</a>] [<a href="https://doi.org/10.1038/nm.1956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19448634">Malicdan et al. (2009)</a> found that D176V-mutant mice treated orally with sialic acid showed increased survival, increased motor performance, and decreased number of rimmed vacuoles in skeletal muscle compared to untreated mice with the disorder. Prophylactic treatment prevented development of the myopathic phenotype. The findings indicated that hyposialylation is a key factor in the pathomechanism of DMRV-HIBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17704511+19448634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Huang, L., Kondo, Y., Cao, L., Han, J., Li, T., Zuo, B., Yang, F., Li, Y., Ma, Z., Bai, X., Jiang, M., Ruan, C., Xia, L. <strong>Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.</strong> Blood Adv. 8: 991-1001, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38237079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38237079</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38237079[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/bloodadvances.2023011490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38237079">Huang et al. (2024)</a> found that mice homozygous for the GNE P735R mutation developed fatal cerebral hemorrhage at the early embryonic stage. Histologic studies of brains from mutant mice showed defective angiogenesis with fewer and distended vascular sprouts and abnormal megakaryocyte accumulation in the perineural vascular plexus, even though circulating megakaryocytes were decreased. Western blot analysis showed decreased levels of the P735R protein, and there was defective sialic acid biosynthesis and impaired protein sialylation compared to controls. RNA-seq studies of brain tissue from the mutant mice showed abnormal expression of genes related to angiogenesis, These findings suggested a role for Gne in angiogenesis during embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38237079" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>23 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603824[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908621;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=rs121908621" 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=rs121908621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with sialuria (<a href="/entry/269921">269921</a>) who was originally described by <a href="#33" class="mim-tip-reference" title="Wilcken, B., Don, N., Greenaway, R., Hammond, J., Sosula, L. <strong>Sialuria: a second case.</strong> J. Inherit. Metab. Dis. 10: 97-102, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2443758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2443758</a>] [<a href="https://doi.org/10.1007/BF01800030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2443758">Wilcken et al. (1987)</a>, <a href="#27" class="mim-tip-reference" title="Seppala, R., Lehto, V.-P., Gahl, W. A. <strong>Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.</strong> Am. J. Hum. Genet. 64: 1563-1569, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330343</a>] [<a href="https://doi.org/10.1086/302411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330343">Seppala et al. (1999)</a> identified a C-to-T transition in the third base of codon 266 of the GNE gene, resulting in an arg266-to-trp (R266W) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2443758+10330343" 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">rs121908622 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908622;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=rs121908622" 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=rs121908622" 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=RCV000006393 OR RCV001241785" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006393, RCV001241785" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006393...</a>
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<p>In a patient with sialuria (<a href="/entry/269921">269921</a>) who was originally described by <a href="#32" class="mim-tip-reference" title="Weiss, P., Tietze, F., Gahl, W. A., Seppala, R., Ashwell, G. <strong>Identification of the metabolic defect in sialuria.</strong> J. Biol. Chem. 264: 17635-17636, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808337</a>]" pmid="2808337">Weiss et al. (1989)</a>, <a href="#27" class="mim-tip-reference" title="Seppala, R., Lehto, V.-P., Gahl, W. A. <strong>Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.</strong> Am. J. Hum. Genet. 64: 1563-1569, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330343</a>] [<a href="https://doi.org/10.1086/302411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330343">Seppala et al. (1999)</a> identified a G-to-A transition in the second base of codon 266 of the GNE gene, resulting in an arg266-to-gln (R266Q) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2808337+10330343" 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 boy (patient 1) with sialuria, <a href="#20" class="mim-tip-reference" title="Leroy, J. G., Seppala, R., Huizing, M., Dacremont, G., De Simpel, H., Van Coster, R. N., Orvisky, E., Krasnewich, D. M., Gahl, W. A. <strong>Dominant inheritance of sialuria, an inborn error of feedback inhibition.</strong> Am. J. Hum. Genet. 68: 1419-1427, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326336</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11326336[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326336">Leroy et al. (2001)</a> described heterozygosity for a c.848G-A transition (c.848G-A, NM_005476) in the GNE gene resulting in the R266Q mutation. His mother (patient 2) was found to carry the same heterozygous mutation, confirming dominant inheritance of the disorder. In contrast to all 4 of her sisters, who had graduated from various college-level training programs, the mother had completed only grade school and held domestic employment briefly before marriage. She was of normal stature without dysmorphic features. The urinary level of free NeuAc was elevated. The father, who was unrelated to the mother, had normal urinary findings. At 2 months of age the child had frequent opisthotonic posturing and persistent hypotonia. Anemia required transfusion of packed red blood cells. Excessive rhinorrhea and recurrent respiratory infections were present throughout infancy. Impaired hip and knee extensions were noted at age 15 months. The boy remained hypotonic but alert and physically active. Skeletal x-rays at age 10.5 months showed a skeletal age between 3 and 6 months and mildly widened long bone diaphyses and widened metaphyses of some bones of the limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326336" 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>.0003 SIALURIA</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908623 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908623;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=rs121908623" 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=rs121908623" 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=RCV000006394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006394</a>
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<p>In a patient with sialuria (<a href="/entry/269921">269921</a>) who was originally described by <a href="#18" class="mim-tip-reference" title="Krasnewich, D. M., Tietze, F., Krause, W., Pretzlaff, R., Wenger, D. A., Diwadkar, V., Gahl, W. A. <strong>Clinical and biochemical studies in an American child with sialuria.</strong> Biochem. Med. Metab. Biol. 49: 90-96, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8439453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8439453</a>] [<a href="https://doi.org/10.1006/bmmb.1993.1010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8439453">Krasnewich et al. (1993)</a>, <a href="#27" class="mim-tip-reference" title="Seppala, R., Lehto, V.-P., Gahl, W. A. <strong>Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.</strong> Am. J. Hum. Genet. 64: 1563-1569, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330343</a>] [<a href="https://doi.org/10.1086/302411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330343">Seppala et al. (1999)</a> identified a G-to-T transversion in the second base of codon 263 of the GNE gene, resulting in an arg263-to-leu (R263L) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8439453+10330343" 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> rs28937594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28937594;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/rs28937594?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=rs28937594" 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=rs28937594" 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=RCV000006396 OR RCV000443895 OR RCV000763615 OR RCV001705582 OR RCV004748503 OR RCV005003338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006396, RCV000443895, RCV000763615, RCV001705582, RCV004748503, RCV005003338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006396...</a>
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<p><a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the MET712THR mutation as MET743THR (M743T). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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 47 Middle Eastern Jewish families, <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> found that affected individuals with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), which the authors called hereditary inclusion body myopathy (HIBM), had a c.2186T-C transition in exon 12 of the GNE gene, resulting in a met712-to-thr (M712T) amino acid change in the kinase domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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 second cousins from an Italian family diagnosed with HIBM, <a href="#6" class="mim-tip-reference" title="Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A., Mirabella, M. <strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong> Neurology 59: 1808-1809, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473780</a>] [<a href="https://doi.org/10.1212/01.wnl.0000031808.04545.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473780">Broccolini et al. (2002)</a> identified compound heterozygosity for mutations in the GNE gene: M712T and a novel mutation (M171V; <a href="#0016">603824.0016</a>). The authors noted that it was the first report of the M712T mutation in patients of non-Middle Eastern descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473780" 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="#3" class="mim-tip-reference" title="Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. <strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong> Neurology 60: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743242">Argov et al. (2003)</a> identified homozygosity for the M712T mutation in 129 Middle Eastern patients diagnosed with HIBM from 55 families. Eleven patients had atypical features: 5 had involvement of the quadriceps muscle, 2 patients did not have distal weakness, 3 patients had facial weakness, and 1 patient had perivascular inflammation. There were 5 unaffected individuals with the homozygous mutation from 5 different HIBM families, including 2 who were 50 and 68 years old. The families included Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin. <a href="#3" class="mim-tip-reference" title="Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. <strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong> Neurology 60: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743242">Argov et al. (2003)</a> offered a detailed historical perspective of the different cultures, and concluded that this founder mutation is approximately 1,300 years old and is not limited to those of Jewish descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743242" 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 Japanese patient with Nonaka myopathy, <a href="#30" class="mim-tip-reference" title="Tomimitsu, H., Shimizu, J., Ishikawa, K., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.</strong> Neurology 62: 1607-1610, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136692</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123115.23652.6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136692">Tomimitsu et al. (2004)</a> identified compound heterozygosity for the M712T mutation and the A631V mutation (<a href="#0015">603824.0015</a>). The findings indicated that Nonaka myopathy and what was previously called hereditary inclusion body myopathy are identical disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136692" 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> rs121908625 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908625;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/rs121908625?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=rs121908625" 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=rs121908625" 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=RCV000006397 OR RCV003764532" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006397, RCV003764532" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006397...</a>
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<p>In a Georgia (USA) family, <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> found that Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygosity for 2 mutations in the GNE gene: a gly576-to-glu (G576E) substitution and an ala631-to-thr (A631T; <a href="#0007">603824.0007</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006398 OR RCV001385135" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006398, RCV001385135" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006398...</a>
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<p>For discussion of the ala631-to-thr (A631T) mutation in the GNE gene that was found in compound heterozygous state in a patient with Nonaka syndrome (NM; <a href="/entry/605820">605820</a>) by <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a>, see <a href="#0006">603824.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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> rs121908627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908627;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/rs121908627?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=rs121908627" 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=rs121908627" 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=RCV000202424 OR RCV000255973 OR RCV000494439 OR RCV000763616 OR RCV001167212 OR RCV003415667 OR RCV005041991" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202424, RCV000255973, RCV000494439, RCV000763616, RCV001167212, RCV003415667, RCV005041991" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202424...</a>
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<p><a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the VAL696MET mutation as VAL727MET (V727M). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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 Asiatic Indian family, <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> found that Nonanka myopathy (NM; <a href="/entry/605820">605820</a>), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygous mutations in the GNE gene: val696 to met (V696M) and cys303 to ter (C303X; <a href="#0009">603824.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O'Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., and 68 others. <strong>Analysis of protein-coding genetic variation in 60,706 humans.</strong> Nature 536: 285-291, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27535533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27535533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27535533[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27535533">Lek et al. (2016)</a> questioned the pathogenicity of this variant because it has a high allele frequency (0.0141) in the South Asian population in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27535533" 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">rs121908628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908628;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=rs121908628" 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=rs121908628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the cys303-to-ter (C303X) mutation in the GNE gene that was found in compound heterozygous state in an Asiatic Indian family with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>) by <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a>, see <a href="#0008">603824.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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> rs121908629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908629;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/rs121908629?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=rs121908629" 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=rs121908629" 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=RCV000202425 OR RCV000725734 OR RCV001051696 OR RCV004585989 OR RCV005003339" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202425, RCV000725734, RCV001051696, RCV004585989, RCV005003339" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202425...</a>
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<p>In a family from the Bahamas, <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> found that Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygous mutations in the GNE gene: arg246 to gln (R246Q) and asp225 to asn (D225N; <a href="#0011">603824.0011</a>). Both mutations were in exon 4 and the amino acid changes involved the epimerase domain of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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> rs121908630 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908630;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/rs121908630?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=rs121908630" 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=rs121908630" 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=RCV000006402 OR RCV000594042 OR RCV001383000" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006402, RCV000594042, RCV001383000" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006402...</a>
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<p>For discussion of the asp225-to-asn (D225N) mutation in the GNE gene that was found in compound heterozygous state in patients with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>) by <a href="#7" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a>, see <a href="#0010">603824.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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">rs121908631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908631;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=rs121908631" 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=rs121908631" 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=RCV000006403 OR RCV000724337" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006403, RCV000724337" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006403...</a>
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<p>In 2 sibs with distal myopathy with rimmed vacuoles, or Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), <a href="#15" class="mim-tip-reference" title="Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. <strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong> J. Hum. Genet. 47: 77-79, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916006</a>] [<a href="https://doi.org/10.1007/s100380200004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916006">Kayashima et al. (2002)</a> found compound heterozygosity in the GNE gene for a C-to-T transition in exon 8, resulting in an ala460-to-val (A460V) substitution, and a G-to-C transition in exon 10, resulting in a V572L (<a href="#0013">603824.0013</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916006" 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> rs121908632 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908632;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/rs121908632?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=rs121908632" 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=rs121908632" 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=RCV000006404 OR RCV000724160 OR RCV001217981 OR RCV005041992" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006404, RCV000724160, RCV001217981, RCV005041992" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006404...</a>
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<p><a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the VAL572LEU mutation as VAL603LEU (V603L). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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>Nonaka Myopathy</em></strong></p><p>
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For discussion of the val572-to-leu (V572L) mutation in the GNE gene that was found in compound heterozygous state in patients with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>) by <a href="#15" class="mim-tip-reference" title="Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. <strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong> J. Hum. Genet. 47: 77-79, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916006</a>] [<a href="https://doi.org/10.1007/s100380200004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916006">Kayashima et al. (2002)</a>, see <a href="#0012">603824.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916006" 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 7 of 9 unrelated Japanese patients with Nonaka myopathy, <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> identified a homozygous c.1765G-C transversion in exon 10 of the GNE gene, resulting in a val572-to-leu (V572L) substitution. An eighth patient was a compound heterozygote for V572L and C303V (<a href="#0014">603824.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arai, A., Tanaka, K., Ikeuchi, T., Igarashi, S., Kobayashi, H., Asaka, T., Date, H., Saito, M., Tanaka, H., Kawasaki, S., Uyama, E., Mizusawa, H., Fukuhara, N., Tsuji, S. <strong>A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.</strong> Ann. Neurol. 52: 516-519, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325084</a>] [<a href="https://doi.org/10.1002/ana.10341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325084">Arai et al. (2002)</a> identified the V572L mutation in patients with Nonaka myopathy from 6 consanguineous Japanese families. Haplotype analysis indicated a strong founder effect in these pedigrees. Mean age of onset was 23 years, and most cases became nonambulant within 10 years of disease onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Tomimitsu, H., Shimizu, J., Ishikawa, K., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.</strong> Neurology 62: 1607-1610, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136692</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123115.23652.6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136692">Tomimitsu et al. (2004)</a> identified the V572L mutation in 15 of 22 patients with Nonaka myopathy: 9 were homozygous and 6 were compound heterozygous for V572L and another mutation in the GNE gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136692" 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="#17" class="mim-tip-reference" title="Kim, B. J., Ki, C.-S., Kim, J.-W., Sung, D. H., Choi, Y.-C., Kim, S. H. <strong>Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.</strong> J. Hum. Genet. 51: 137-140, 2006. Note: Erratum: J. Hum. Genet. 51: 840 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16372135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16372135</a>] [<a href="https://doi.org/10.1007/s10038-005-0338-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16372135">Kim et al. (2006)</a> identified the V572L mutation in 7 of 8 unrelated Korean patients with Nonaka myopathy: 4 were homozygous and 3 were compound heterozygous for V572L and another mutation in the GNE gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16372135" 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>Thrombocytopenia 12 With Myopathy</em></strong></p><p>
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In 2 Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#14" class="mim-tip-reference" title="Izumi, R., Niihori, T., Suzuki, N., Sasahara, Y., Rikiishi, T., Nishiyama, A., Nishiyama, S., Endo, K., Kato, M., Warita, H., Konno, H., Takahashi, T., Tateyama, M., Nagashima, T., Funayama, R., Nakayama, K., Kure, S., Matsubara, Y., Aoki, Y., Aoki, M. <strong>GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.</strong> Neuromusc. Disord. 24: 1068-1072, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25257349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25257349</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25257349">Izumi et al. (2014)</a> identified compound heterozygous missense mutations in the GNE gene: V603L and G739S (<a href="#0018">603824.0018</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. The authors noted that the V603L mutation in the GNE gene is the most common among the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25257349" 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">rs121908633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908633;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=rs121908633" 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=rs121908633" 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=RCV000006405" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006405" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006405</a>
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<p>In a patient with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> identified 2 nucleotide substitutions in the GNE gene, c.958_959TG-GT, resulting in a cys303-to-val (C303V) change. The patient was compound heterozygous for this mutation and V572L (<a href="#0013">603824.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177386" 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> rs62541771 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62541771;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/rs62541771?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=rs62541771" 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=rs62541771" 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=RCV000006406 OR RCV000254883 OR RCV000763617 OR RCV004525844 OR RCV004566685 OR RCV005041993" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006406, RCV000254883, RCV000763617, RCV004525844, RCV004566685, RCV005041993" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006406...</a>
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<p>In 1 of 9 unrelated Japanese patients with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> identified a homozygous c.1943C-T transition in exon 11 of the GNE gene, resulting in an ala631-to-val (A631V) substitution. Of the 9 patients, this patient had the latest age of onset, the slowest progression of disease, and was still able to stand 30 years after onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177386" 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 affected members of an American family with NM, <a href="#31" class="mim-tip-reference" title="Vasconcelos, O. M., Raju, R., Dalakas, M. C. <strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong> Neurology 59: 1776-1779, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>] [<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473769">Vasconcelos et al. (2002)</a> identified compound heterozygous mutations in the GNE gene: A631V and a c.698T-C transition in exon 4 resulting in a val216-to-ala (V216A; <a href="#0017">603824.0017</a>) substitution. <a href="#31" class="mim-tip-reference" title="Vasconcelos, O. M., Raju, R., Dalakas, M. C. <strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong> Neurology 59: 1776-1779, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>] [<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473769">Vasconcelos et al. (2002)</a> called the disorder quadriceps-sparing inclusion body myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473769" 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>.0016 NONAKA MYOPATHY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908634 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908634;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=rs121908634" 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=rs121908634" 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=RCV000006407" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006407" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006407</a>
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<p>In 2 second cousins from an Italian family with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>), <a href="#6" class="mim-tip-reference" title="Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A., Mirabella, M. <strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong> Neurology 59: 1808-1809, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473780</a>] [<a href="https://doi.org/10.1212/01.wnl.0000031808.04545.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473780">Broccolini et al. (2002)</a> identified compound heterozygosity for mutations in the GNE gene: a c.562A-to-G transition in exon 3, resulting in a met171-to-val substitution (M171V) and M712T (<a href="#0005">603824.0005</a>). The authors called the disorder hereditary inclusion body myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473780" 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> rs779694939 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs779694939;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/rs779694939?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=rs779694939" 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=rs779694939" 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=RCV000202427 OR RCV000255797 OR RCV000627756 OR RCV005003557" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202427, RCV000255797, RCV000627756, RCV005003557" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202427...</a>
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<p>For discussion of the c.698T-C transition in the GNE gene, resulting in a val216-to-ala (V216A) substitution, that was found in compound heterozygous state in affected members of an American family with Nonaka myopathy (NM; <a href="/entry/605820">605820</a>) by <a href="#31" class="mim-tip-reference" title="Vasconcelos, O. M., Raju, R., Dalakas, M. C. <strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong> Neurology 59: 1776-1779, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>] [<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473769">Vasconcelos et al. (2002)</a>, see <a href="#0015">603824.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473769" 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>.0018 THROMBOCYTOPENIA 12 WITH MYOPATHY</strong>
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GNE, GLY739SER
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<p>In 2 Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#14" class="mim-tip-reference" title="Izumi, R., Niihori, T., Suzuki, N., Sasahara, Y., Rikiishi, T., Nishiyama, A., Nishiyama, S., Endo, K., Kato, M., Warita, H., Konno, H., Takahashi, T., Tateyama, M., Nagashima, T., Funayama, R., Nakayama, K., Kure, S., Matsubara, Y., Aoki, Y., Aoki, M. <strong>GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.</strong> Neuromusc. Disord. 24: 1068-1072, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25257349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25257349</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.07.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25257349">Izumi et al. (2014)</a> identified compound heterozygous missense mutations in the GNE gene: a c.2215G-A transition (c.2215G-A, NM_001128227) resulting in a gly739-to-ser (G739S) substitution, and V603L (<a href="#0013">603824.0013</a>). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Exome sequencing also identified biallelic mutations in 2 other genes that segregated with THC12 in this family: a homozygous c.627_628insCCG (Ser209delinsSP) in the CPEB2 gene (<a href="/entry/610605">610605</a>) and compound heterozygosity for T907M and S1159L in the FLNB gene (<a href="/entry/603381">603381</a>). Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25257349" 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>.0019 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</strong>
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GNE, LEU517PRO
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<p>In 3 sibs, ranging from 6 to 14 years of age and born of consanguineous Palestinian Arab parents (family 2) with congenital thrombocytopenia-12 (THC12; <a href="/entry/620757">620757</a>) without myopathy, <a href="#25" class="mim-tip-reference" title="Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., Lambert, M. P. <strong>GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.</strong> Blood 132: 1851-1854, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30171045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30171045</a>] [<a href="https://doi.org/10.1182/blood-2018-04-845545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30171045">Revel-Vilk et al. (2018)</a> identified a homozygous T-to-C transition in exon 9 of the GNE gene, resulting in a leu517-to-pro (L517P) substitution at a conserved residue in the kinase domain. Functional studies of the variant were not performed. <a href="#25" class="mim-tip-reference" title="Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., Lambert, M. P. <strong>GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.</strong> Blood 132: 1851-1854, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30171045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30171045</a>] [<a href="https://doi.org/10.1182/blood-2018-04-845545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30171045">Revel-Vilk et al. (2018)</a> referred to the mutation as c.1457T-C, L486P in the text of the report, and as L517P in Supplementary Figure 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30171045" 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>.0020 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</strong>
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GNE, VAL516ARG
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<p>In an 18-month-old boy (P1), born of consanguineous Egyptian parents, with thrombocytopenia-12 without myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#5" class="mim-tip-reference" title="Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., and 13 others. <strong>GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.</strong> Haematologica 107: 750-754, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3324/haematol.2021.279689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788986">Bottega et al. (2022)</a> identified a homozygous c.1546_1547delinsAG mutation (c.1546_1547delinsAG, NM_001128227.3) in the GNE gene, resulting in a val516-to-arg (V516R) substitution at a conserved residue in the kinase domain. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family and was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression (39% of normal). Serum transferrin glycoforms showed a higher level of asialo-, disialo-, and trisialo- forms and a decrease in tetrasialoforms compared to controls. These findings suggested that the mutation resulted in a partial loss of GNE function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788986" 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>.0021 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</strong>
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GNE, THR575ARG
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<p>In a 4-year-old boy (P2), born of consanguineous Moroccan parents, with thrombocytopenia-12 without myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#5" class="mim-tip-reference" title="Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., and 13 others. <strong>GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.</strong> Haematologica 107: 750-754, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3324/haematol.2021.279689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34788986">Bottega et al. (2022)</a> identified a homozygous c.1724C-G transversion (c.1724C-G, NM_001128227.3) in the GNE gene, resulting in a thr575-to-arg (T575R) substitution at a conserved residue in the kinase domain. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family, and was not found in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression (79% of normal). Serum transferrin glycoforms showed a higher level of asialo-, disialo-, and trisialo- forms and a decrease in tetrasialoforms compared to controls. These findings suggested that the mutation resulted in a partial loss of GNE function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</strong>
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GNE, CYS594TYR
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<p>In a 13-year-old boy, born of unrelated parents, with congenital thrombocytopenia-12 without myopathy (THC12; <a href="/entry/620757">620757</a>), <a href="#11" class="mim-tip-reference" title="Huang, L., Kondo, Y., Cao, L., Han, J., Li, T., Zuo, B., Yang, F., Li, Y., Ma, Z., Bai, X., Jiang, M., Ruan, C., Xia, L. <strong>Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.</strong> Blood Adv. 8: 991-1001, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38237079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38237079</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38237079[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/bloodadvances.2023011490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38237079">Huang et al. (2024)</a> identified compound heterozygous missense mutations in the GNE gene: a c.1781G-A transition (c.1781G-A, NM_001128227.3) in exon 10, resulting in a cys594-to-tyr (C594Y) substitution, and a c.2204C-G transversion in exon 12, resulting in a pro735-to-arg substitution (P735R; <a href="#0023">603824.0023</a>). The mutations, which were found by targeted exome sequencing and confirmed by Sanger sequencing, both occurred in the C-terminal ManNAc kinase domain. The C594Y mutation was present in the unaffected father, but DNA from the unaffected mother was not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38237079" 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>.0023 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</strong>
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GNE, PRO735ARG
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<p>For discussion of the c.2204C-G transversion (c.2204C-G, NM_001128227.3) in exon 12 of the GNE gene, resulting in a pro735-to-arg (P735R) substitution, that was found in compound heterozygous state in a patient with congenital thrombocytopenia-12 without myopathy (THC12; <a href="/entry/620757">620757</a>) by <a href="#11" class="mim-tip-reference" title="Huang, L., Kondo, Y., Cao, L., Han, J., Li, T., Zuo, B., Yang, F., Li, Y., Ma, Z., Bai, X., Jiang, M., Ruan, C., Xia, L. <strong>Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.</strong> Blood Adv. 8: 991-1001, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38237079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38237079</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38237079[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/bloodadvances.2023011490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38237079">Huang et al. (2024)</a>, see <a href="#0022">603824.0022</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38237079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1002/ana.10341" target="_blank">Full Text</a>]
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Argov, A., Yarom, R.
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[<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank">Full Text</a>]
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Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S.
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<strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong>
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Neurology 60: 1519-1523, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743242" 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/10.1212/01.wnl.0000061617.71839.42" target="_blank">Full Text</a>]
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Arnadottir, G. A., Oddsson, A., Jensson, B. L., Gisladottir, S., Simon, M. T., Arnthorsson, A. O., Katrinardottir, H., Fridriksdottir, R., Ivarsdottir, E. V., Jonasdottir, A., Jonasdottir, A., Barrick, R., 21 others.
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<strong>Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.</strong>
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Nature Commun. 13: 705, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35121750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35121750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35121750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41467-022-28330-8" target="_blank">Full Text</a>]
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Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., and 13 others.
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<strong>GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.</strong>
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Haematologica 107: 750-754, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34788986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34788986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34788986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34788986" 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/10.3324/haematol.2021.279689" target="_blank">Full Text</a>]
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Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A., Mirabella, M.
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<strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473780" 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/10.1212/01.wnl.0000031808.04545.e0" target="_blank">Full Text</a>]
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<a id="Eisenberg2001" class="mim-anchor"></a>
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Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S.
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<strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng718" target="_blank">Full Text</a>]
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<a id="Futterer2018" class="mim-anchor"></a>
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Futterer, J., Dalby, A., Lowe, G. C., Johnson, B., Simpson, M. A., Motwani, J., Williams, M., Watson, S. P., Morgan, N. V.
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Blood 132: 1855-1858, 2018.
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[<a href="https://doi.org/10.1182/blood-2018-04-847798" target="_blank">Full Text</a>]
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Galeano, B., Klootwijk, R., Manoli, I., Sun, M., Ciccone, C., Darvish, D., Starost, M. F., Zerfas, P. M., Hoffmann, V. J., Hoogstraten-Miller, S., Krasnewich, D. M., Gahl, W. A., Huizing, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17549255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17549255</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17549255[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17549255" 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/10.1172/JCI30954" target="_blank">Full Text</a>]
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Proc. Nat. Acad. Sci. 99: 5267-5270, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11929971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11929971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11929971[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11929971" 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/10.1073/pnas.072066199" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Seppala1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Seppala, R., Lehto, V.-P., Gahl, W. A.
|
|
<strong>Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.</strong>
|
|
Am. J. Hum. Genet. 64: 1563-1569, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330343" 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/10.1086/302411" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Stasche1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stasche, R., Hinderlich, S., Weise, C., Effertz, K., Lucka, L., Moormann, P., Reutter, W.
|
|
<strong>A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase.</strong>
|
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J. Biol. Chem. 272: 24319-24324, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9305888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9305888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9305888" 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/10.1074/jbc.272.39.24319" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Tomimitsu2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H.
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<strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong>
|
|
Neurology 59: 451-454, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177386" 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/10.1212/wnl.59.3.451" target="_blank">Full Text</a>]
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Tomimitsu2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tomimitsu, H., Shimizu, J., Ishikawa, K., Ohkoshi, N., Kanazawa, I., Mizusawa, H.
|
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<strong>Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.</strong>
|
|
Neurology 62: 1607-1610, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136692" 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/10.1212/01.wnl.0000123115.23652.6c" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Vasconcelos2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vasconcelos, O. M., Raju, R., Dalakas, M. C.
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<strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong>
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Neurology 59: 1776-1779, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12473769" 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/10.1212/01.wnl.0000039780.13681.ad" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="Weiss1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weiss, P., Tietze, F., Gahl, W. A., Seppala, R., Ashwell, G.
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<strong>Identification of the metabolic defect in sialuria.</strong>
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J. Biol. Chem. 264: 17635-17636, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2808337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Wilcken1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilcken, B., Don, N., Greenaway, R., Hammond, J., Sosula, L.
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<strong>Sialuria: a second case.</strong>
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J. Inherit. Metab. Dis. 10: 97-102, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2443758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2443758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2443758" 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/BF01800030" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/18/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/13/2024<br>Cassandra L. Kniffin - updated : 05/13/2022<br>Ada Hamosh - updated : 12/01/2016<br>Carol A. Bocchini - updated : 12/10/2015<br>Cassandra L. Kniffin - updated : 9/2/2009<br>Cassandra L. Kniffin - updated : 8/10/2009<br>Marla J. F. O'Neill - updated : 8/1/2007<br>Marla J. F. O'Neill - updated : 4/6/2006<br>Cassandra L. Kniffin - reorganized : 2/25/2005<br>Cassandra L. Kniffin - updated : 2/21/2005<br>Cassandra L. Kniffin - updated : 8/19/2003<br>Cassandra L. Kniffin - updated : 1/17/2003<br>Cassandra L. Kniffin - updated : 12/6/2002<br>Cassandra L. Kniffin - updated : 10/7/2002<br>Victor A. McKusick - updated : 5/31/2002<br>Victor A. McKusick - updated : 3/19/2002<br>Victor A. McKusick - updated : 6/20/2001<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 1/13/2000<br>Victor A. McKusick - updated : 6/2/1999
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div 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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Rebekah S. Rasooly : 5/20/1999
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/20/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 03/18/2024<br>alopez : 03/13/2024<br>carol : 05/17/2022<br>ckniffin : 05/13/2022<br>carol : 12/01/2016<br>carol : 12/10/2015<br>carol : 4/6/2015<br>alopez : 3/17/2015<br>carol : 1/2/2014<br>carol : 1/2/2014<br>carol : 1/2/2014<br>carol : 3/21/2013<br>ckniffin : 6/29/2011<br>wwang : 9/9/2009<br>ckniffin : 9/2/2009<br>wwang : 8/10/2009<br>wwang : 4/1/2009<br>wwang : 8/13/2007<br>terry : 8/1/2007<br>wwang : 4/10/2006<br>terry : 4/6/2006<br>ckniffin : 6/30/2005<br>tkritzer : 2/25/2005<br>tkritzer : 2/25/2005<br>ckniffin : 2/21/2005<br>tkritzer : 1/5/2004<br>cwells : 8/19/2003<br>ckniffin : 8/18/2003<br>carol : 1/24/2003<br>ckniffin : 1/21/2003<br>ckniffin : 1/17/2003<br>ckniffin : 1/17/2003<br>carol : 12/6/2002<br>ckniffin : 12/6/2002<br>carol : 11/1/2002<br>tkritzer : 10/29/2002<br>ckniffin : 10/7/2002<br>cwells : 6/6/2002<br>cwells : 6/5/2002<br>terry : 5/31/2002<br>cwells : 4/3/2002<br>cwells : 3/21/2002<br>terry : 3/19/2002<br>alopez : 8/27/2001<br>alopez : 8/27/2001<br>terry : 8/23/2001<br>mcapotos : 6/26/2001<br>mcapotos : 6/21/2001<br>terry : 6/20/2001<br>carol : 1/13/2000<br>terry : 1/13/2000<br>kayiaros : 7/13/1999<br>mgross : 6/9/1999<br>mgross : 6/8/1999<br>mgross : 6/2/1999<br>alopez : 5/21/1999<br>alopez : 5/21/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 603824
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
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UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
GLCNE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GNE</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238051008, 702382000;
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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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<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: 9p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:36,214,441-36,276,978 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
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<span class="mim-font">
|
|
9p13.3
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Nonaka myopathy
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
605820
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
3
|
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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">
|
|
Sialuria
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
269921
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
Thrombocytopenia 12 with or without myopathy
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
620757
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The GNE gene encodes UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase; EC 5.1.3.14)/N-acetylmannosamine kinase (ManNAc kinase; EC 2.7.1.60), a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids (Hinderlich et al., 1997). </p><p>Sialic acid modification of glycoproteins and glycolipids expressed at the cell surface is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. GNE is the rate-limiting enzyme in the sialic acid biosynthetic pathway (Keppler et al., 1999). </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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Stasche et al. (1997) isolated rat cDNAs encoding the UDP-N-acetylglucosamine 2-epimerase. Secreting organs, such as liver, salivary glands, and intestinal mucosa, showed high UDP-GlcNAc 2-epimerase/ManNAc kinase activity. </p><p>Keppler et al. (1999) determined that UDP-GlcNAc 2-epimerase activity is rate-limiting for the biosynthesis of sialic acid and is required for sialylation in hematopoietic cells. The activity of the enzyme can be controlled at the transcriptional level and can affect the sialylation and function of specific cell surface molecules expressed on B cells and myeloid cells. In a Genbank submission (AJ238764), these authors reported the sequence of a human UDP-GlcNAc 2-epimerase cDNA. </p><p>Tomimitsu et al. (2004) identified 2 isoforms of GNE: a longer form, comprising 556 bp, and a shorter form, with exon 4 missing and comprising 403 bp. The shorter isoform was predominantly expressed in skeletal muscle, whereas the longer isoform was predominantly expressed in all other tissues. The shorter isoform was expressed in skeletal muscle of both controls and patients with Nonaka myopathy (NM; 605820), with no difference between the 2 groups. </p><p>The GNE gene is highly expressed in hematopoietic progenitor cells, including platelets (summary by Futterer et al., 2018). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Huizing et al. (2014) stated that the GNE gene contains 13 exons. </p><p>Huizing et al. (2014) noted that 8 GNE splice variants had been identified to that time. They noted that for mutation annotation purposes, 2 major transcripts are relevant: variant 2 (the originally described GNE protein), which encodes 722 amino acids, and variant 1 (the longest mRNA transcript), which encodes 753 amino acids. </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of a mouse-human cell hybrid panel, Huizing and Anikster (2000) assigned the gene that is mutant in sialuria to chromosome 9p12-p11.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Sialuria</em></strong></p><p>
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Sialuria (269921) is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free NeuAc. Overproduction of NeuAc was believed to result from loss of feedback inhibition of UDP-GlcNAc 2-epimerase by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac). To elucidate the molecular mechanism for defective allosteric regulation of UDP-GlcNAc 2-epimerase in this disease, Seppala et al. (1999) cloned and sequenced the human cDNA encoding the epimerase and determined the mutations in 3 sialuria patients. Three heterozygous mutations, arg266 to trp (603824.0001), arg266 to gln (603824.0002), and arg263 to leu (603824.0003), indicated that the allosteric site of the epimerase resides in the region of codons 263 to 266. The absence of any symptoms in the parents of the affected children indicated that the base changes represented new mutations. Parental DNA was not available for direct analysis. The heterozygous nature of the mutant allele in all 3 patients demonstrated dominant inheritance of sialuria, i.e., heterozygosity for a mutation in the allosteric site is sufficient to cause the disorder. In this case, the mutant epimerase activity continues to produce free sialic acid and CMP-Neu5Ac, which inhibits the normal but not the mutant epimerase. With no brake on the rate-limiting step in sialic acid production, intracellular free sialic acid levels increase indefinitely, leading to the clinical and laboratory findings of sialuria. Dominant inheritance has also been reported in the syndrome of hyperinsulinism and hyperammonemia, in which GTP fails to feedback-inhibit glutamate dehydrogenase (138130) because of mutations affecting the enzyme's allosteric site (see 138130.0003). </p><p>Arnadottir et al. (2022) identified a homozygous missense mutation (c.1132G-T, NM_005476.5, D378Y) in the GNE gene in an Icelandic infant who died shortly after birth with acidosis, a ventricular septal defect, micro-Ebstein anomaly (see 224700), and polysplenia. The mutation was found by analyzing whole-genome data from a large cohort of over 153,054 adult Icelandic individuals for a deficit of carriers of homozygous missense variants in different genes. The affected individual was then identified from a clinical cohort of Icelandic patients with various disorders who had undergone whole-genome sequencing. The authors noted that homozygosity for the D378Y mutation had not previously been reported. Among 9 Icelandic couples in which both healthy individuals carried a heterozygous D378Y mutation, 6 women (66.7%) had a medical history of miscarriage, which is significantly higher than the 26.7% rate of miscarriage among Icelandic women in the general population (OR of 6.0). Arnadottir et al. (2022) suggested that homozygosity for the D378Y mutation causes a reduction in sialic acid production that is below the critical sialylation threshold necessary for early human development. </p><p><strong><em>Nonaka Myopathy</em></strong></p><p>
|
|
Nonaka myopathy (NM; 605820) affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. The disorder was first described in Japanese by Nonaka et al. (1981), and designated distal myopathy with rimmed vacuoles (DMRV), and later in Jews of Persian descent by Argov and Yarom (1984), and designated hereditary inclusion body myopathy (HIBM). Originally thought to be separate disorders, they were both found to be caused by mutation in the GNE gene and were eventually determined to be the same (Nishino et al., 2002; Tomimitsu et al., 2002). </p><p>In affected individuals with NM from 47 Middle Eastern families, Eisenberg et al. (2001) identified the same homozygous missense mutation in the GNE gene (M712T; 603824.0005). In affected individuals in families of other ethnic origins, they identified distinct compound heterozygous mutations in GNE (603824.0006-603824.0011). </p><p>Kayashima et al. (2002) performed sequence and haplotype analysis of the GNE gene in 2 sibs with NM and demonstrated compound heterozygosity for 2 missense mutations (603284.0012, 603284.0013) in both. Their parents and a normal elder brother were all carriers for one or the other of the mutations. </p><p>Among 33 Japanese patients and 1 patient of German and Irish ancestry with NM, Nishino et al. (2002) identified homozygous or compound heterozygous mutations in the GNE gene in 27 unrelated patients. An unaffected father of 1 patient had a homozygous mutation that presumably caused disease in other patients. The V572L mutation (603824.0013) accounted for 61% of the abnormal alleles in the study, indicating a high frequency of carriers of this mutation in Japan. The authors noted that the patient of German and Irish ancestry had a compound mutation, although not the V572L mutation, indicating that the disorder is not restricted to Japan. </p><p>In an American patient with NM, Vasconcelos et al. (2002) identified compound heterozygous mutations in the GNE gene (603824.0015; 603824.0017). No mutation in the GNE gene was detected in 11 sporadic patients with inclusion body myopathy. </p><p>Tomimitsu et al. (2004) identified mutations in the GNE gene in 20 of 22 patients with Nonaka myopathy. Fifteen patients had the V572L mutation, either in homozygous or compound heterozygous state. The authors also identified 7 novel GNE mutations. One patient carried the met712-to-thr mutation (M712T; 603824.0005), confirming that hereditary inclusion body myopathy and Nonaka myopathy are allelic or identical disorders. </p><p>Kim et al. (2006) performed clinical and genetic analysis of 9 unrelated Korean patients suspected of having Nonaka myopathy and found that 8 of the 9 were homozygous or compound heterozygous for mutations in the GNE gene. The allelic frequencies of the V572L and C13S mutations were 68.8% and 12.5%, respectively. </p><p><strong><em>Thrombocytopenia 12 With or Without Myopathy</em></strong></p><p>
|
|
In 2 adult Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; 620757), Izumi et al. (2014) identified compound heterozygous missense mutations in the GNE gene: V603L (603824.0013) and G739S (603824.0018). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. The authors noted that the V603L mutation in the GNE gene is the most common among the Japanese population. </p><p>In 9 patients from 3 unrelated families with THC12 without myopathy, Revel-Vilk et al. (2018) identified homozygous or compound heterozygous mutations in the GNE gene (see, e.g., L517P; 603824.0019). The patients ranged from 6 to 42 years of age. Functional studies of the variants were not performed. </p><p>In 2 unrelated children, each born of consanguineous parents, with THC12 without myopathy, Bottega et al. (2022) identified homozygous mutations in the GNE gene (V516R, 603824.0020 and T575R, 603824.0021). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families and were not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression. Patient serum transferrin glycoforms showed higher levels of asialo-, disialo-, and trisialo- forms and decreased tertrasialoforms compared to controls. These findings suggested that the mutations resulted in a partial loss of GNE function. </p><p>In a 13-year-old boy, born of unrelated parents, with THC12 without myopathy, Huang et al. (2024) identified compound heterozygous missense mutations in the GNE gene (C594Y, 603824.0022 and P735R, 603824.0023). The mutations, which were found by targeted exome sequencing and confirmed by Sanger sequencing, both occurred in the C-terminal ManNAc kinase domain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>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">
|
|
<p>Schwarzkopf et al. (2002) reported that inactivation of GNE (which is bifunctional and the key enzyme of sialic acid biosynthesis) by gene targeting in mice caused early embryonic lethality, thereby emphasizing the fundamental role of the enzyme and sialylation during development. The need for the enzyme for a defined sialylation process is exemplified by the polysialylation of the neural cell adhesion molecule in embryonic stem cells. </p><p>Galeano et al. (2007) created knockin mice with the M712T Gne mutation and found that homozygous mutants did not survive beyond postnatal day 3. On postnatal day 2, there was significantly decreased Gne activity in muscle but no myopathic features; rather, the homozygous mutant mice had glomerular hematuria, proteinuria, and podocytopathy, with segmental splitting of the glomerular basement membrane, effacement of podocyte foot processes, and reduced sialylation of podocalyxin (see 602632). With administration of ManNAc, 43% of homozygous mutants survived beyond postnatal day 3, exhibiting improved renal histology, increased sialylation of podocalyxin, and increased Gne expression and activity. Galeano et al. (2007) concluded that M712T Gne-knockin mice provide a novel animal model of hyposialylation-related podocytopathy and segmental splitting of the glomerular basement membrane, demonstrating the significance of sialic acid synthesis in kidney development and function. </p><p>Malicdan et al. (2007) generated Gne-deficient mice expressing the human D176V-GNE mutation as a mouse model of distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy (DMRV-HIBM). Complete knockout of the Gne gene was embryonic lethal. Mice with the D176V mutation showed marked hyposialylation in serum, muscle, and other organs. Reduction in motor performance in these mice could only be seen from 30 weeks of age. By 32 weeks, myofibers developed beta-amyloid deposition, which preceded rimmed vacuole formation at 42 weeks. The findings also suggested that hyposialylation plays an important role in the pathomechanism of DMRV-HIBM. Malicdan et al. (2009) found that D176V-mutant mice treated orally with sialic acid showed increased survival, increased motor performance, and decreased number of rimmed vacuoles in skeletal muscle compared to untreated mice with the disorder. Prophylactic treatment prevented development of the myopathic phenotype. The findings indicated that hyposialylation is a key factor in the pathomechanism of DMRV-HIBM. </p><p>Huang et al. (2024) found that mice homozygous for the GNE P735R mutation developed fatal cerebral hemorrhage at the early embryonic stage. Histologic studies of brains from mutant mice showed defective angiogenesis with fewer and distended vascular sprouts and abnormal megakaryocyte accumulation in the perineural vascular plexus, even though circulating megakaryocytes were decreased. Western blot analysis showed decreased levels of the P735R protein, and there was defective sialic acid biosynthesis and impaired protein sialylation compared to controls. RNA-seq studies of brain tissue from the mutant mice showed abnormal expression of genes related to angiogenesis, These findings suggested a role for Gne in angiogenesis during embryonic development. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>23 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>
|
|
<span class="mim-font">
|
|
<strong>.0001 SIALURIA</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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GNE, ARG266TRP
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<br />
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|
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SNP: rs121908621,
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|
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ClinVar: RCV000006392, RCV001267416
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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 patient with sialuria (269921) who was originally described by Wilcken et al. (1987), Seppala et al. (1999) identified a C-to-T transition in the third base of codon 266 of the GNE gene, resulting in an arg266-to-trp (R266W) substitution. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 SIALURIA</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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GNE, ARG266GLN
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<br />
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|
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SNP: rs121908622,
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|
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ClinVar: RCV000006393, RCV001241785
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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 patient with sialuria (269921) who was originally described by Weiss et al. (1989), Seppala et al. (1999) identified a G-to-A transition in the second base of codon 266 of the GNE gene, resulting in an arg266-to-gln (R266Q) substitution. </p><p>In a boy (patient 1) with sialuria, Leroy et al. (2001) described heterozygosity for a c.848G-A transition (c.848G-A, NM_005476) in the GNE gene resulting in the R266Q mutation. His mother (patient 2) was found to carry the same heterozygous mutation, confirming dominant inheritance of the disorder. In contrast to all 4 of her sisters, who had graduated from various college-level training programs, the mother had completed only grade school and held domestic employment briefly before marriage. She was of normal stature without dysmorphic features. The urinary level of free NeuAc was elevated. The father, who was unrelated to the mother, had normal urinary findings. At 2 months of age the child had frequent opisthotonic posturing and persistent hypotonia. Anemia required transfusion of packed red blood cells. Excessive rhinorrhea and recurrent respiratory infections were present throughout infancy. Impaired hip and knee extensions were noted at age 15 months. The boy remained hypotonic but alert and physically active. Skeletal x-rays at age 10.5 months showed a skeletal age between 3 and 6 months and mildly widened long bone diaphyses and widened metaphyses of some bones of the limbs. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 SIALURIA</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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GNE, ARG263LEU
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<br />
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|
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SNP: rs121908623,
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ClinVar: RCV000006394
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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 patient with sialuria (269921) who was originally described by Krasnewich et al. (1993), Seppala et al. (1999) identified a G-to-T transversion in the second base of codon 263 of the GNE gene, resulting in an arg263-to-leu (R263L) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-text-font">
|
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<strong>.0004 MOVED TO 603824.0002</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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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 NONAKA MYOPATHY</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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GNE, MET743THR
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<br />
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SNP: rs28937594,
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gnomAD: rs28937594,
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ClinVar: RCV000006396, RCV000443895, RCV000763615, RCV001705582, RCV004748503, RCV005003338
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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>Huizing et al. (2014) noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the MET712THR mutation as MET743THR (M743T). </p><p>In 47 Middle Eastern Jewish families, Eisenberg et al. (2001) found that affected individuals with Nonaka myopathy (NM; 605820), which the authors called hereditary inclusion body myopathy (HIBM), had a c.2186T-C transition in exon 12 of the GNE gene, resulting in a met712-to-thr (M712T) amino acid change in the kinase domain of the protein. </p><p>In 2 second cousins from an Italian family diagnosed with HIBM, Broccolini et al. (2002) identified compound heterozygosity for mutations in the GNE gene: M712T and a novel mutation (M171V; 603824.0016). The authors noted that it was the first report of the M712T mutation in patients of non-Middle Eastern descent. </p><p>Argov et al. (2003) identified homozygosity for the M712T mutation in 129 Middle Eastern patients diagnosed with HIBM from 55 families. Eleven patients had atypical features: 5 had involvement of the quadriceps muscle, 2 patients did not have distal weakness, 3 patients had facial weakness, and 1 patient had perivascular inflammation. There were 5 unaffected individuals with the homozygous mutation from 5 different HIBM families, including 2 who were 50 and 68 years old. The families included Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin. Argov et al. (2003) offered a detailed historical perspective of the different cultures, and concluded that this founder mutation is approximately 1,300 years old and is not limited to those of Jewish descent. </p><p>In a Japanese patient with Nonaka myopathy, Tomimitsu et al. (2004) identified compound heterozygosity for the M712T mutation and the A631V mutation (603824.0015). The findings indicated that Nonaka myopathy and what was previously called hereditary inclusion body myopathy are identical disorders. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 NONAKA MYOPATHY</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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GNE, GLY576GLU
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<br />
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SNP: rs121908625,
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gnomAD: rs121908625,
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ClinVar: RCV000006397, RCV003764532
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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 Georgia (USA) family, Eisenberg et al. (2001) found that Nonaka myopathy (NM; 605820), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygosity for 2 mutations in the GNE gene: a gly576-to-glu (G576E) substitution and an ala631-to-thr (A631T; 603824.0007) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 NONAKA MYOPATHY</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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GNE, ALA631THR
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<br />
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SNP: rs121908626,
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gnomAD: rs121908626,
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ClinVar: RCV000006398, RCV001385135
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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 ala631-to-thr (A631T) mutation in the GNE gene that was found in compound heterozygous state in a patient with Nonaka syndrome (NM; 605820) by Eisenberg et al. (2001), see 603824.0006. </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>.0008 NONAKA MYOPATHY</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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GNE, VAL727MET
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<br />
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SNP: rs121908627,
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gnomAD: rs121908627,
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ClinVar: RCV000202424, RCV000255973, RCV000494439, RCV000763616, RCV001167212, RCV003415667, RCV005041991
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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>Huizing et al. (2014) noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the VAL696MET mutation as VAL727MET (V727M). </p><p>In an Asiatic Indian family, Eisenberg et al. (2001) found that Nonanka myopathy (NM; 605820), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygous mutations in the GNE gene: val696 to met (V696M) and cys303 to ter (C303X; 603824.0009). </p><p>Lek et al. (2016) questioned the pathogenicity of this variant because it has a high allele frequency (0.0141) in the South Asian population in the ExAC database. </p>
|
|
</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>.0009 NONAKA MYOPATHY</strong>
|
|
</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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GNE, CYS303TER
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<br />
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SNP: rs121908628,
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ClinVar: RCV000006400
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the cys303-to-ter (C303X) mutation in the GNE gene that was found in compound heterozygous state in an Asiatic Indian family with Nonaka myopathy (NM; 605820) by Eisenberg et al. (2001), see 603824.0008. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 NONAKA MYOPATHY</strong>
|
|
</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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GNE, ARG246GLN
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<br />
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SNP: rs121908629,
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gnomAD: rs121908629,
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ClinVar: RCV000202425, RCV000725734, RCV001051696, RCV004585989, RCV005003339
|
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|
|
</span>
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|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family from the Bahamas, Eisenberg et al. (2001) found that Nonaka myopathy (NM; 605820), which the authors called hereditary inclusion body myopathy, was caused by compound heterozygous mutations in the GNE gene: arg246 to gln (R246Q) and asp225 to asn (D225N; 603824.0011). Both mutations were in exon 4 and the amino acid changes involved the epimerase domain of the protein. </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>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, ASP225ASN
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<br />
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|
|
SNP: rs121908630,
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|
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gnomAD: rs121908630,
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|
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ClinVar: RCV000006402, RCV000594042, RCV001383000
|
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|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the asp225-to-asn (D225N) mutation in the GNE gene that was found in compound heterozygous state in patients with Nonaka myopathy (NM; 605820) by Eisenberg et al. (2001), see 603824.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, ALA460VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908631,
|
|
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|
|
|
|
ClinVar: RCV000006403, RCV000724337
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with distal myopathy with rimmed vacuoles, or Nonaka myopathy (NM; 605820), Kayashima et al. (2002) found compound heterozygosity in the GNE gene for a C-to-T transition in exon 8, resulting in an ala460-to-val (A460V) substitution, and a G-to-C transition in exon 10, resulting in a V572L (603824.0013) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
THROMBOCYTOPENIA 12 WITH MYOPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, VAL603LEU
|
|
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|
|
|
<br />
|
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|
|
SNP: rs121908632,
|
|
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|
|
|
gnomAD: rs121908632,
|
|
|
|
|
|
ClinVar: RCV000006404, RCV000724160, RCV001217981, RCV005041992
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Huizing et al. (2014) noted the identification of an additional N-terminal 31 amino acids encoded by the longest GNE transcript (NM_001128227); thus, they renumbered the VAL572LEU mutation as VAL603LEU (V603L). </p><p><strong><em>Nonaka Myopathy</em></strong></p><p>
|
|
For discussion of the val572-to-leu (V572L) mutation in the GNE gene that was found in compound heterozygous state in patients with Nonaka myopathy (NM; 605820) by Kayashima et al. (2002), see 603824.0012. </p><p>In 7 of 9 unrelated Japanese patients with Nonaka myopathy, Tomimitsu et al. (2002) identified a homozygous c.1765G-C transversion in exon 10 of the GNE gene, resulting in a val572-to-leu (V572L) substitution. An eighth patient was a compound heterozygote for V572L and C303V (603824.0014). </p><p>Arai et al. (2002) identified the V572L mutation in patients with Nonaka myopathy from 6 consanguineous Japanese families. Haplotype analysis indicated a strong founder effect in these pedigrees. Mean age of onset was 23 years, and most cases became nonambulant within 10 years of disease onset. </p><p>Tomimitsu et al. (2004) identified the V572L mutation in 15 of 22 patients with Nonaka myopathy: 9 were homozygous and 6 were compound heterozygous for V572L and another mutation in the GNE gene. </p><p>Kim et al. (2006) identified the V572L mutation in 7 of 8 unrelated Korean patients with Nonaka myopathy: 4 were homozygous and 3 were compound heterozygous for V572L and another mutation in the GNE gene. </p><p><strong><em>Thrombocytopenia 12 With Myopathy</em></strong></p><p>
|
|
In 2 Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; 620757), Izumi et al. (2014) identified compound heterozygous missense mutations in the GNE gene: V603L and G739S (603824.0018). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. The authors noted that the V603L mutation in the GNE gene is the most common among the Japanese population. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, CYS303VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908633,
|
|
|
|
|
|
|
|
ClinVar: RCV000006405
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Nonaka myopathy (NM; 605820), Tomimitsu et al. (2002) identified 2 nucleotide substitutions in the GNE gene, c.958_959TG-GT, resulting in a cys303-to-val (C303V) change. The patient was compound heterozygous for this mutation and V572L (603824.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, ALA631VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs62541771,
|
|
|
|
|
|
gnomAD: rs62541771,
|
|
|
|
|
|
ClinVar: RCV000006406, RCV000254883, RCV000763617, RCV004525844, RCV004566685, RCV005041993
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of 9 unrelated Japanese patients with Nonaka myopathy (NM; 605820), Tomimitsu et al. (2002) identified a homozygous c.1943C-T transition in exon 11 of the GNE gene, resulting in an ala631-to-val (A631V) substitution. Of the 9 patients, this patient had the latest age of onset, the slowest progression of disease, and was still able to stand 30 years after onset. </p><p>In affected members of an American family with NM, Vasconcelos et al. (2002) identified compound heterozygous mutations in the GNE gene: A631V and a c.698T-C transition in exon 4 resulting in a val216-to-ala (V216A; 603824.0017) substitution. Vasconcelos et al. (2002) called the disorder quadriceps-sparing inclusion body myopathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, MET171VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908634,
|
|
|
|
|
|
|
|
ClinVar: RCV000006407
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 second cousins from an Italian family with Nonaka myopathy (NM; 605820), Broccolini et al. (2002) identified compound heterozygosity for mutations in the GNE gene: a c.562A-to-G transition in exon 3, resulting in a met171-to-val substitution (M171V) and M712T (603824.0005). The authors called the disorder hereditary inclusion body myopathy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 NONAKA MYOPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GNE, VAL216ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs779694939,
|
|
|
|
|
|
gnomAD: rs779694939,
|
|
|
|
|
|
ClinVar: RCV000202427, RCV000255797, RCV000627756, RCV005003557
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.698T-C transition in the GNE gene, resulting in a val216-to-ala (V216A) substitution, that was found in compound heterozygous state in affected members of an American family with Nonaka myopathy (NM; 605820) by Vasconcelos et al. (2002), see 603824.0015. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0018 THROMBOCYTOPENIA 12 WITH MYOPATHY</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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GNE, GLY739SER
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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 2 Japanese sibs with congenital thrombocytopenia-12 with myopathy (THC12; 620757), Izumi et al. (2014) identified compound heterozygous missense mutations in the GNE gene: a c.2215G-A transition (c.2215G-A, NM_001128227) resulting in a gly739-to-ser (G739S) substitution, and V603L (603824.0013). The mutations, which were found by exome sequencing, segregated with the disorder in the family. Exome sequencing also identified biallelic mutations in 2 other genes that segregated with THC12 in this family: a homozygous c.627_628insCCG (Ser209delinsSP) in the CPEB2 gene (610605) and compound heterozygosity for T907M and S1159L in the FLNB gene (603381). Functional studies of the variants and studies of patient cells were not performed. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0019 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</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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GNE, LEU517PRO
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs, ranging from 6 to 14 years of age and born of consanguineous Palestinian Arab parents (family 2) with congenital thrombocytopenia-12 (THC12; 620757) without myopathy, Revel-Vilk et al. (2018) identified a homozygous T-to-C transition in exon 9 of the GNE gene, resulting in a leu517-to-pro (L517P) substitution at a conserved residue in the kinase domain. Functional studies of the variant were not performed. Revel-Vilk et al. (2018) referred to the mutation as c.1457T-C, L486P in the text of the report, and as L517P in Supplementary Figure 2. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0020 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</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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GNE, VAL516ARG
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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 an 18-month-old boy (P1), born of consanguineous Egyptian parents, with thrombocytopenia-12 without myopathy (THC12; 620757), Bottega et al. (2022) identified a homozygous c.1546_1547delinsAG mutation (c.1546_1547delinsAG, NM_001128227.3) in the GNE gene, resulting in a val516-to-arg (V516R) substitution at a conserved residue in the kinase domain. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family and was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression (39% of normal). Serum transferrin glycoforms showed a higher level of asialo-, disialo-, and trisialo- forms and a decrease in tetrasialoforms compared to controls. These findings suggested that the mutation resulted in a partial loss of GNE function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0021 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</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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GNE, THR575ARG
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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 4-year-old boy (P2), born of consanguineous Moroccan parents, with thrombocytopenia-12 without myopathy (THC12; 620757), Bottega et al. (2022) identified a homozygous c.1724C-G transversion (c.1724C-G, NM_001128227.3) in the GNE gene, resulting in a thr575-to-arg (T575R) substitution at a conserved residue in the kinase domain. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family, and was not found in the gnomAD database. Western blot analysis of patient lymphoblasts showed reduced GNE protein expression (79% of normal). Serum transferrin glycoforms showed a higher level of asialo-, disialo-, and trisialo- forms and a decrease in tetrasialoforms compared to controls. These findings suggested that the mutation resulted in a partial loss of GNE function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0022 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</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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GNE, CYS594TYR
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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 13-year-old boy, born of unrelated parents, with congenital thrombocytopenia-12 without myopathy (THC12; 620757), Huang et al. (2024) identified compound heterozygous missense mutations in the GNE gene: a c.1781G-A transition (c.1781G-A, NM_001128227.3) in exon 10, resulting in a cys594-to-tyr (C594Y) substitution, and a c.2204C-G transversion in exon 12, resulting in a pro735-to-arg substitution (P735R; 603824.0023). The mutations, which were found by targeted exome sequencing and confirmed by Sanger sequencing, both occurred in the C-terminal ManNAc kinase domain. The C594Y mutation was present in the unaffected father, but DNA from the unaffected mother was not available. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0023 THROMBOCYTOPENIA 12 WITHOUT MYOPATHY</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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GNE, PRO735ARG
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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 c.2204C-G transversion (c.2204C-G, NM_001128227.3) in exon 12 of the GNE gene, resulting in a pro735-to-arg (P735R) substitution, that was found in compound heterozygous state in a patient with congenital thrombocytopenia-12 without myopathy (THC12; 620757) by Huang et al. (2024), see 603824.0022. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<strong>A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.</strong>
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Argov, A., Yarom, R.
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Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S.
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Arnadottir, G. A., Oddsson, A., Jensson, B. L., Gisladottir, S., Simon, M. T., Arnthorsson, A. O., Katrinardottir, H., Fridriksdottir, R., Ivarsdottir, E. V., Jonasdottir, A., Jonasdottir, A., Barrick, R., 21 others.
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Bottega, R., Marzollo, A., Marinoni, M., Athanasakis, E., Persico, I., Bianco, A. M., Faleschini, M., Valencic, E., Simoncini, D., Rossini, L., Corsolini, F., La Bianca, M., and 13 others.
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<strong>GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.</strong>
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[PubMed: 34788986]
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Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A., Mirabella, M.
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<strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong>
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Neurology 59: 1808-1809, 2002.
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[PubMed: 12473780]
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Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S.
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<strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong>
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Nature Genet. 29: 83-87, 2001.
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Futterer, J., Dalby, A., Lowe, G. C., Johnson, B., Simpson, M. A., Motwani, J., Williams, M., Watson, S. P., Morgan, N. V.
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Galeano, B., Klootwijk, R., Manoli, I., Sun, M., Ciccone, C., Darvish, D., Starost, M. F., Zerfas, P. M., Hoffmann, V. J., Hoogstraten-Miller, S., Krasnewich, D. M., Gahl, W. A., Huizing, M.
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<strong>Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.</strong>
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Hinderlich, S., Stasche, R., Zeitler, R., Reutter, W.
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<strong>A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.</strong>
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J. Biol. Chem. 272: 24313-24318, 1997.
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Huang, L., Kondo, Y., Cao, L., Han, J., Li, T., Zuo, B., Yang, F., Li, Y., Ma, Z., Bai, X., Jiang, M., Ruan, C., Xia, L.
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<strong>Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.</strong>
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Huizing, M., Anikster, Y.
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Bethesda, Md. 1/10/2000.
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Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I.
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<p class="mim-text-font">
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Izumi, R., Niihori, T., Suzuki, N., Sasahara, Y., Rikiishi, T., Nishiyama, A., Nishiyama, S., Endo, K., Kato, M., Warita, H., Konno, H., Takahashi, T., Tateyama, M., Nagashima, T., Funayama, R., Nakayama, K., Kure, S., Matsubara, Y., Aoki, Y., Aoki, M.
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Neuromusc. Disord. 24: 1068-1072, 2014.
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[PubMed: 25257349]
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[Full Text: https://doi.org/10.1016/j.nmd.2014.07.008]
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Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T.
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<strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong>
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J. Hum. Genet. 47: 77-79, 2002.
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[PubMed: 11916006]
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<li>
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<p class="mim-text-font">
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Keppler, O. T., Hinderlich, S., Langner, J., Schwartz-Albiez, R., Reutter, W., Pawlita, M.
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<strong>UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.</strong>
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Science 284: 1372-1376, 1999.
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[PubMed: 10334995]
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[Full Text: https://doi.org/10.1126/science.284.5418.1372]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Kim, B. J., Ki, C.-S., Kim, J.-W., Sung, D. H., Choi, Y.-C., Kim, S. H.
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<strong>Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.</strong>
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J. Hum. Genet. 51: 137-140, 2006. Note: Erratum: J. Hum. Genet. 51: 840 only, 2006.
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[PubMed: 16372135]
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[Full Text: https://doi.org/10.1007/s10038-005-0338-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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