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Entry
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- *300105 - SPERMINE SYNTHASE; SMS
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300105</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300105">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000102172;t=ENST00000404933" 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=6611" 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=300105" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000102172;t=ENST00000404933" 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_001258423,NM_004595,XM_005274582,XM_011545568" 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_004595" 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=300105" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02115&isoform_id=02115_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/SMS" 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/791051,2198557,4164136,8247960,14602778,21264341,55716035,119619390,119619391,119619392,189054060,194373711,386643030,530421237,768032690,2462630613" 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/P52788" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=6611" 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=ENSG00000102172;t=ENST00000404933" 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=SMS" 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=SMS" 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+6611" 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/SMS" 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:6611" 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/6611" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000404933.7&hgg_start=21940709&hgg_end=21994837&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11123" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11123" 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/sms" 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=300105[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=300105[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/SMS/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/ENSG00000102172" 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.gwascentral.org/search?q=SMS" 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=SMS" 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/SMS" 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=SMS&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/PA35972" 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:11123" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036272.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:109490 MGI:3705601" 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/SMS#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/batch/summary?idType=MGI&ids=MGI:109490 MGI:3705601" 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/6611/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=6611" 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-040625-150" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6611" 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=SMS&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> 702416008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300105
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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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SPERMINE SYNTHASE; SMS
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SMS" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SMS</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/114?start=-3&limit=10&highlight=114">Xp22.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:21940709-21994837&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:21,940,709-21,994,837</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/114?start=-3&limit=10&highlight=114">
|
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Xp22.11
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type
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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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<a href="/entry/309583"> 309583 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300105" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/300105" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>Spermine synthase (<a href="https://enzyme.expasy.org/EC/2.5.1.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.5.1.22</a>) is 1 of 4 enzymes involved in the synthesis of polyamines from arginine and methionine. The others are ornithine decarboxylase (<a href="/entry/165640">165640</a>), S-adenosyl-L-methionine decarboxylase (<a href="/entry/180980">180980</a>), and spermidine synthase (<a href="/entry/182891">182891</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Korhonen, V. P., Halmekyto, M., Kauppinen, L., Myohanen, S., Wahlfors, J., Keinanen, T., Hyvonen, T., Alhonen, L., Eloranta, T., Janne, J. <strong>Molecular cloning of a cDNA encoding human spermine synthase.</strong> DNA Cell Biol. 14: 841-847, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7546290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7546290</a>] [<a href="https://doi.org/10.1089/dna.1995.14.841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7546290">Korhonen et al. (1995)</a> isolated and sequenced cDNA clones encoding human spermine synthase. The open reading frame encodes a 368-amino acid protein with little sequence similarity to proteins from bacterial and mammalian sources catalyzing almost identical reactions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7546290" 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="#4" class="mim-tip-reference" title="Grieff, M., Whyte, M. P., Thakker, R. V., Mazzarella, R. <strong>Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5-prime region of PEX.</strong> Genomics 44: 227-231, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299240</a>] [<a href="https://doi.org/10.1006/geno.1997.4876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299240">Grieff et al. (1997)</a> determined that the SMS gene (which they symbolized SpS) contains 11 exons spanning 54 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299240" 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="#4" class="mim-tip-reference" title="Grieff, M., Whyte, M. P., Thakker, R. V., Mazzarella, R. <strong>Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5-prime region of PEX.</strong> Genomics 44: 227-231, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299240</a>] [<a href="https://doi.org/10.1006/geno.1997.4876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299240">Grieff et al. (1997)</a> mapped the SMS gene 38 kb telomeric to the PHEX gene (<a href="/entry/300550">300550</a>) on Xp22.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299240" 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="#10" class="mim-tip-reference" title="Wu, H., Min, J., Zeng, H., McCloskey, D. E., Ikeguchi, Y., Loppnau, P., Michael, A. J., Pegg, A. E., Plotnikov, A. N. <strong>Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.</strong> J. Biol. Chem. 283: 16135-16146, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18367445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18367445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18367445[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/10.1074/jbc.M710323200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18367445">Wu et al. (2008)</a> determined the crystal structure of human SMS, which is a dimer of 2 identical subunits. Each monomer has 3 domains: a C-terminal domain, which contains the active site and is similar in structure to spermidine synthase; a central domain made up of 4 beta-strands; and an N-terminal domain with structural similarity to S-adenosylmethionine decarboxylase (AMD1; <a href="/entry/180980">180980</a>), the enzyme that forms the aminopropyl donor substrate. Dimerization occurs mainly through interactions between the N-terminal domains. Deletion of the N-terminal domain led to a complete loss of spermine synthase activity, suggesting that dimerization may be required for activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18367445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a family with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; <a href="/entry/309583">309583</a>) originally reported by <a href="#9" class="mim-tip-reference" title="Snyder, R. D., Robinson, A. <strong>Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: report of a family.</strong> Clin. Pediat. 8: 669-674, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5823961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5823961</a>] [<a href="https://doi.org/10.1177/000992286900801114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5823961">Snyder and Robinson (1969)</a>, <a href="#2" class="mim-tip-reference" title="Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E. <strong>X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.</strong> Europ. J. Hum. Genet. 11: 937-944, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508504</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508504">Cason et al. (2003)</a> identified a splice site mutation in the SMS gene (<a href="#0001">300105.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14508504+5823961" 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 Mexican brothers with MRXSSR, <a href="#1" class="mim-tip-reference" title="Becerra-Solano, L. E., Butler, J., Castaneda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A. E., Schwartz, C. E., Sanchez-Corona, J., Garcia-Ortiz, J. E. <strong>A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.</strong> Am. J. Med. Genet. 149A: 328-335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206178</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19206178[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/10.1002/ajmg.a.32641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19206178">Becerra-Solano et al. (2009)</a> identified a mutation in the SMS gene (V132G; <a href="#0003">300105.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206178" 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 affected males from a Belgian family with a relatively mild form of Snyder-Robinson syndrome, <a href="#11" class="mim-tip-reference" title="Zhang, Z., Norris, J., Kalscheuer, V., Wood, T., Wang, L., Schwartz, C., Alexov, E., Van Esch, H. <strong>A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.</strong> Hum. Molec. Genet. 22: 3789-3797, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23696453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23696453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23696453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23696453">Zhang et al. (2013)</a> identified a missense mutation in the SMS gene (Y328C; <a href="#0004">300105.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23696453" 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 from Italy with Snyder-Robinson syndrome, <a href="#8" class="mim-tip-reference" title="Peron, A., Spaccini, L., Norris, J., Bova, S. M., Selicorni, A., Weber, G., Wood, T., Schwartz, C. E., Mastrangelo, M. <strong>Snyder-Robinson syndrome: a novel missense mutation in spermine synthase and expansion of the phenotype.</strong> Am. J. Med. Genet. 161A: 2316-2320, 2013. Note: Erratum: Am. J. Med. Genet. 164A: 1083 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23897707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23897707</a>] [<a href="https://doi.org/10.1002/ajmg.a.36116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23897707">Peron et al. (2013)</a> identified a missense mutation in the SMS gene (G67E; 300105.0005). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23897707" 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>First identified as a mouse model for X-linked hypophosphatemia, the 'Gyro' or 'Gy' mouse (see <a href="/entry/300550">300550</a>) also exhibits neurologic abnormalities, including deafness, hyperactivity, circling behavior, and inner ear abnormalities (<a href="#6" class="mim-tip-reference" title="Lyon, M. F., Scriver, C. R., Baker, L. R. I., Tenenhouse, H. S., Kronick, J., Mandla, S. <strong>The Gy mutation: another cause of X-linked hypophosphatemia in mouse.</strong> Proc. Nat. Acad. Sci. 83: 4899-4903, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460077</a>] [<a href="https://doi.org/10.1073/pnas.83.13.4899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3460077">Lyon et al., 1986</a>). <a href="#7" class="mim-tip-reference" title="Meyer, R. A., Jr., Henley, C. M., Meyer, M. H., Morgan, P. L., McDonald, A. G., Mills, C., Price, D. K. <strong>Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, Gyro (Gy) mouse.</strong> Genomics 48: 289-295, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545633</a>] [<a href="https://doi.org/10.1006/geno.1997.5169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545633">Meyer et al. (1998)</a> found that the Gyro mouse has a partial deletion of both the Sms gene and the Phex gene, making it a contiguous gene syndrome in that species. However, as mutation in the Phex gene alone results in a hypophosphatemic phenotype in the mouse (Hyp) without neurologic manifestations, <a href="#7" class="mim-tip-reference" title="Meyer, R. A., Jr., Henley, C. M., Meyer, M. H., Morgan, P. L., McDonald, A. G., Mills, C., Price, D. K. <strong>Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, Gyro (Gy) mouse.</strong> Genomics 48: 289-295, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545633</a>] [<a href="https://doi.org/10.1006/geno.1997.5169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545633">Meyer et al. (1998)</a> suggested that a deficiency of spermine may explain the additional neurologic findings in the Gy mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3460077+9545633" 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>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515381;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=rs397515381" 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=rs397515381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a family with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; <a href="/entry/309583">309583</a>) originally reported by <a href="#9" class="mim-tip-reference" title="Snyder, R. D., Robinson, A. <strong>Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: report of a family.</strong> Clin. Pediat. 8: 669-674, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5823961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5823961</a>] [<a href="https://doi.org/10.1177/000992286900801114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5823961">Snyder and Robinson (1969)</a>, <a href="#2" class="mim-tip-reference" title="Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E. <strong>X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.</strong> Europ. J. Hum. Genet. 11: 937-944, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508504</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508504">Cason et al. (2003)</a> identified a G-to-A transition at position +5 of the 5-prime splice site of intron 4 of the SMS gene. The mutation segregated with affected status in the family. Functional studies showed that the mutation reduced the activity of SMS to 5% of controls. <a href="#2" class="mim-tip-reference" title="Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E. <strong>X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.</strong> Europ. J. Hum. Genet. 11: 937-944, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508504</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14508504">Cason et al. (2003)</a> noted that the deficiency of spermine in affected patients suggested a role for polyamines in brain development and cognitive function. The authors suggested cerebellar dysfunction or defective functioning of neurons in the red nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14508504+5823961" 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>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434610 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434610;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=rs121434610" 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=rs121434610" 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=RCV000012390 OR RCV000210586 OR RCV000414369" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012390, RCV000210586, RCV000414369" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012390...</a>
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<p>In affected male members of a Brazilian kindred with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; <a href="/entry/309583">309583</a>), <a href="#3" class="mim-tip-reference" title="de Alencastro, G., McCloskey, D. E., Kliemann, S. E., Maranduba, C. M. C., Pegg, A. E., Wang, X., Bertola, D. A., Schwartz, C. E., Passos-Bueno, M. R., Sertie, A. L. <strong>New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. (Letter)</strong> J. Med. Genet. 45: 539-543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550699</a>] [<a href="https://doi.org/10.1136/jmg.2007.056713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550699">de Alencastro et al. (2008)</a> identified a 267G-A transition in exon 2 of the SMS gene, resulting in a gly56-to-ser (G56S) substitution in the N terminus. The phenotype was severe, with profound mental retardation and epilepsy. The G56S mutation segregated with the disease in this family and was not identified in 724 control X chromosomes. Female carriers in the family showed skewed X inactivation. Patient cell lines showed no detectable SMS enzyme activity and an increase in spermadine/spermine ratio. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550699" 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607076;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=rs267607076" 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=rs267607076" 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=RCV000012391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012391</a>
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<p>In 2 Mexican brothers with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; <a href="/entry/309583">309583</a>), <a href="#1" class="mim-tip-reference" title="Becerra-Solano, L. E., Butler, J., Castaneda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A. E., Schwartz, C. E., Sanchez-Corona, J., Garcia-Ortiz, J. E. <strong>A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.</strong> Am. J. Med. Genet. 149A: 328-335, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206178</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19206178[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/10.1002/ajmg.a.32641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19206178">Becerra-Solano et al. (2009)</a> identified a 496T-G transversion in exon 5 of the SMS gene, resulting in a val132-to-gly (V132G) substitution in a highly conserved residue between the N-terminal domain and the linker domain prior to the C-terminal domain that contains the active site of the enzyme. The mutation was not found in 549 control chromosomes. Spermine protein and activity were significantly decreased in both patients but normal in their unaffected mother. The patients had characteristic features of the disorder, including mental retardation, osteoporosis, multiple fractures, and facial asymmetry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515553 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515553;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=rs397515553" 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=rs397515553" 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=RCV000074415" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000074415" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000074415</a>
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<p>In 2 affected males from a Belgian family with a relatively mild form of Snyder-Robinson syndrome (MRXSSR; <a href="/entry/309583">309583</a>), <a href="#11" class="mim-tip-reference" title="Zhang, Z., Norris, J., Kalscheuer, V., Wood, T., Wang, L., Schwartz, C., Alexov, E., Van Esch, H. <strong>A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.</strong> Hum. Molec. Genet. 22: 3789-3797, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23696453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23696453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23696453[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddt229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23696453">Zhang et al. (2013)</a> identified a c.1084A-G transition in the SMS gene, resulting in a tyr328-to-cys (Y328C) substitution. The mutation was also present in the unaffected carrier mother. Biochemical studies showed that the mutant protein could form a dimer, but there was significantly decreased SMS activity and a reduction of protein levels to 20% of normal. Transfection of the mutant protein into PC12 neuronal cells showed that the Y328C mutation did not result in significantly decreased neurite length compared to wildtype, and did not cause changes as severe as a loss-of-function mutation (e.g., <a href="#0001">300105.0001</a>). However, molecular modeling suggested that the Y328C mutations may increase conformational dynamics of the protein, resulting in destabilization and a loss of catalytic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23696453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515550 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515550;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=rs397515550" 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=rs397515550" 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=RCV000055903 OR RCV003221798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000055903, RCV003221798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000055903...</a>
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<p>In a boy with Snyder-Robinson syndrome (MRXSSR; <a href="/entry/309583">309583</a>), <a href="#8" class="mim-tip-reference" title="Peron, A., Spaccini, L., Norris, J., Bova, S. M., Selicorni, A., Weber, G., Wood, T., Schwartz, C. E., Mastrangelo, M. <strong>Snyder-Robinson syndrome: a novel missense mutation in spermine synthase and expansion of the phenotype.</strong> Am. J. Med. Genet. 161A: 2316-2320, 2013. Note: Erratum: Am. J. Med. Genet. 164A: 1083 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23897707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23897707</a>] [<a href="https://doi.org/10.1002/ajmg.a.36116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23897707">Peron et al. (2013)</a> identified a c.200G-A transition in exon 3 of the SMS gene, resulting in a gly67-to-glu (G67E) substitution. No spermine synthase activity above baseline was detected in the patient's lymphoblastoid cells. The patient's mother was heterozygous for the mutation and X-inactivation analysis showed mild skewing. In addition to features characteristic of Snyder-Robinson syndrome, the patient also had an ectopic kidney and early-onset epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23897707" 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 id="Becerra-Solano2009" class="mim-anchor"></a>
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<div class="">
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Becerra-Solano, L. E., Butler, J., Castaneda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A. E., Schwartz, C. E., Sanchez-Corona, J., Garcia-Ortiz, J. E.
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<strong>A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.</strong>
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Am. J. Med. Genet. 149A: 328-335, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206178</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19206178[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=19206178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32641" target="_blank">Full Text</a>]
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<a id="Cason2003" class="mim-anchor"></a>
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Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E.
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<strong>X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.</strong>
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Europ. J. Hum. Genet. 11: 937-944, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14508504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14508504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14508504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201072" target="_blank">Full Text</a>]
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<a id="de Alencastro2008" class="mim-anchor"></a>
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de Alencastro, G., McCloskey, D. E., Kliemann, S. E., Maranduba, C. M. C., Pegg, A. E., Wang, X., Bertola, D. A., Schwartz, C. E., Passos-Bueno, M. R., Sertie, A. L.
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<strong>New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. (Letter)</strong>
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J. Med. Genet. 45: 539-543, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2007.056713" target="_blank">Full Text</a>]
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<a id="Grieff1997" class="mim-anchor"></a>
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Grieff, M., Whyte, M. P., Thakker, R. V., Mazzarella, R.
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<strong>Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5-prime region of PEX.</strong>
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Genomics 44: 227-231, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4876" target="_blank">Full Text</a>]
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Korhonen, V. P., Halmekyto, M., Kauppinen, L., Myohanen, S., Wahlfors, J., Keinanen, T., Hyvonen, T., Alhonen, L., Eloranta, T., Janne, J.
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<strong>Molecular cloning of a cDNA encoding human spermine synthase.</strong>
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DNA Cell Biol. 14: 841-847, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7546290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7546290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7546290" 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/10.1089/dna.1995.14.841" target="_blank">Full Text</a>]
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Lyon, M. F., Scriver, C. R., Baker, L. R. I., Tenenhouse, H. S., Kronick, J., Mandla, S.
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<strong>The Gy mutation: another cause of X-linked hypophosphatemia in mouse.</strong>
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Proc. Nat. Acad. Sci. 83: 4899-4903, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3460077" 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.83.13.4899" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Meyer1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Meyer, R. A., Jr., Henley, C. M., Meyer, M. H., Morgan, P. L., McDonald, A. G., Mills, C., Price, D. K.
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<strong>Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, Gyro (Gy) mouse.</strong>
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Genomics 48: 289-295, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.5169" target="_blank">Full Text</a>]
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<a id="Peron2013" class="mim-anchor"></a>
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Peron, A., Spaccini, L., Norris, J., Bova, S. M., Selicorni, A., Weber, G., Wood, T., Schwartz, C. E., Mastrangelo, M.
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<strong>Snyder-Robinson syndrome: a novel missense mutation in spermine synthase and expansion of the phenotype.</strong>
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Am. J. Med. Genet. 161A: 2316-2320, 2013. Note: Erratum: Am. J. Med. Genet. 164A: 1083 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23897707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23897707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23897707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36116" target="_blank">Full Text</a>]
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<a id="Snyder1969" class="mim-anchor"></a>
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Snyder, R. D., Robinson, A.
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<strong>Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: report of a family.</strong>
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Clin. Pediat. 8: 669-674, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5823961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5823961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5823961" 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/10.1177/000992286900801114" target="_blank">Full Text</a>]
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<a id="Wu2008" class="mim-anchor"></a>
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Wu, H., Min, J., Zeng, H., McCloskey, D. E., Ikeguchi, Y., Loppnau, P., Michael, A. J., Pegg, A. E., Plotnikov, A. N.
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<strong>Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.</strong>
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J. Biol. Chem. 283: 16135-16146, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18367445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18367445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18367445[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=18367445" 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.M710323200" target="_blank">Full Text</a>]
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<a id="Zhang2013" class="mim-anchor"></a>
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Zhang, Z., Norris, J., Kalscheuer, V., Wood, T., Wang, L., Schwartz, C., Alexov, E., Van Esch, H.
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<strong>A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.</strong>
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Hum. Molec. Genet. 22: 3789-3797, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23696453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23696453</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23696453[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=23696453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddt229" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 1/14/2014
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Cassandra L. Kniffin - updated : 11/13/2013<br>Cassandra L. Kniffin - updated : 2/16/2010<br>Cassandra L. Kniffin - updated : 2/9/2009<br>Cassandra L. Kniffin - updated : 5/7/2004
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<span class="mim-text-font">
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Victor A. McKusick : 11/6/1997
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alopez : 08/20/2021
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carol : 01/29/2015<br>alopez : 8/29/2014<br>carol : 1/14/2014<br>alopez : 11/15/2013<br>ckniffin : 11/13/2013<br>carol : 7/20/2011<br>wwang : 2/18/2010<br>ckniffin : 2/16/2010<br>wwang : 4/2/2009<br>ckniffin : 2/9/2009<br>carol : 9/1/2005<br>ckniffin : 9/1/2005<br>tkritzer : 5/11/2004<br>tkritzer : 5/11/2004<br>ckniffin : 5/7/2004<br>carol : 3/22/1999<br>dholmes : 11/18/1997<br>mark : 11/7/1997<br>mark : 11/6/1997<br>mark : 11/6/1997
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SPERMINE SYNTHASE; SMS
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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> 702416008;
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</span>
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</p>
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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: Xp22.11
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Genomic coordinates <span class="small">(GRCh38)</span> : X:21,940,709-21,994,837 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</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>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xp22.11
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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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Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type
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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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309583
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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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X-linked 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>Spermine synthase (EC 2.5.1.22) is 1 of 4 enzymes involved in the synthesis of polyamines from arginine and methionine. The others are ornithine decarboxylase (165640), S-adenosyl-L-methionine decarboxylase (180980), and spermidine synthase (182891).</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>Korhonen et al. (1995) isolated and sequenced cDNA clones encoding human spermine synthase. The open reading frame encodes a 368-amino acid protein with little sequence similarity to proteins from bacterial and mammalian sources catalyzing almost identical reactions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Grieff et al. (1997) determined that the SMS gene (which they symbolized SpS) contains 11 exons spanning 54 kb. </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>Grieff et al. (1997) mapped the SMS gene 38 kb telomeric to the PHEX gene (300550) on Xp22.1. </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>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Wu et al. (2008) determined the crystal structure of human SMS, which is a dimer of 2 identical subunits. Each monomer has 3 domains: a C-terminal domain, which contains the active site and is similar in structure to spermidine synthase; a central domain made up of 4 beta-strands; and an N-terminal domain with structural similarity to S-adenosylmethionine decarboxylase (AMD1; 180980), the enzyme that forms the aminopropyl donor substrate. Dimerization occurs mainly through interactions between the N-terminal domains. Deletion of the N-terminal domain led to a complete loss of spermine synthase activity, suggesting that dimerization may be required for activity. </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>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>In affected members of a family with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; 309583) originally reported by Snyder and Robinson (1969), Cason et al. (2003) identified a splice site mutation in the SMS gene (300105.0001). </p><p>In 2 Mexican brothers with MRXSSR, Becerra-Solano et al. (2009) identified a mutation in the SMS gene (V132G; 300105.0003). </p><p>In 2 affected males from a Belgian family with a relatively mild form of Snyder-Robinson syndrome, Zhang et al. (2013) identified a missense mutation in the SMS gene (Y328C; 300105.0004). </p><p>In a boy from Italy with Snyder-Robinson syndrome, Peron et al. (2013) identified a missense mutation in the SMS gene (G67E; 300105.0005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>First identified as a mouse model for X-linked hypophosphatemia, the 'Gyro' or 'Gy' mouse (see 300550) also exhibits neurologic abnormalities, including deafness, hyperactivity, circling behavior, and inner ear abnormalities (Lyon et al., 1986). Meyer et al. (1998) found that the Gyro mouse has a partial deletion of both the Sms gene and the Phex gene, making it a contiguous gene syndrome in that species. However, as mutation in the Phex gene alone results in a hypophosphatemic phenotype in the mouse (Hyp) without neurologic manifestations, Meyer et al. (1998) suggested that a deficiency of spermine may explain the additional neurologic findings in the Gy mouse. </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">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>5 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</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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|
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SMS, IVS4AS, G-A, +5
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<br />
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|
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SNP: rs397515381,
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|
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ClinVar: RCV000012389
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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 affected members of a family with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; 309583) originally reported by Snyder and Robinson (1969), Cason et al. (2003) identified a G-to-A transition at position +5 of the 5-prime splice site of intron 4 of the SMS gene. The mutation segregated with affected status in the family. Functional studies showed that the mutation reduced the activity of SMS to 5% of controls. Cason et al. (2003) noted that the deficiency of spermine in affected patients suggested a role for polyamines in brain development and cognitive function. The authors suggested cerebellar dysfunction or defective functioning of neurons in the red nucleus. </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>
|
|
<span class="mim-font">
|
|
<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</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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|
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SMS, GLY56SER
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<br />
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|
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SNP: rs121434610,
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ClinVar: RCV000012390, RCV000210586, RCV000414369
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected male members of a Brazilian kindred with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; 309583), de Alencastro et al. (2008) identified a 267G-A transition in exon 2 of the SMS gene, resulting in a gly56-to-ser (G56S) substitution in the N terminus. The phenotype was severe, with profound mental retardation and epilepsy. The G56S mutation segregated with the disease in this family and was not identified in 724 control X chromosomes. Female carriers in the family showed skewed X inactivation. Patient cell lines showed no detectable SMS enzyme activity and an increase in spermadine/spermine ratio. </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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</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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|
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SMS, VAL132GLY
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<br />
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SNP: rs267607076,
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ClinVar: RCV000012391
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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 Mexican brothers with Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR; 309583), Becerra-Solano et al. (2009) identified a 496T-G transversion in exon 5 of the SMS gene, resulting in a val132-to-gly (V132G) substitution in a highly conserved residue between the N-terminal domain and the linker domain prior to the C-terminal domain that contains the active site of the enzyme. The mutation was not found in 549 control chromosomes. Spermine protein and activity were significantly decreased in both patients but normal in their unaffected mother. The patients had characteristic features of the disorder, including mental retardation, osteoporosis, multiple fractures, and facial asymmetry. </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>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</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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SMS, TYR328CYS
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<br />
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SNP: rs397515553,
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ClinVar: RCV000074415
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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 affected males from a Belgian family with a relatively mild form of Snyder-Robinson syndrome (MRXSSR; 309583), Zhang et al. (2013) identified a c.1084A-G transition in the SMS gene, resulting in a tyr328-to-cys (Y328C) substitution. The mutation was also present in the unaffected carrier mother. Biochemical studies showed that the mutant protein could form a dimer, but there was significantly decreased SMS activity and a reduction of protein levels to 20% of normal. Transfection of the mutant protein into PC12 neuronal cells showed that the Y328C mutation did not result in significantly decreased neurite length compared to wildtype, and did not cause changes as severe as a loss-of-function mutation (e.g., 300105.0001). However, molecular modeling suggested that the Y328C mutations may increase conformational dynamics of the protein, resulting in destabilization and a loss of catalytic activity. </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>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE</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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SMS, GLY67GLU
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<br />
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SNP: rs397515550,
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ClinVar: RCV000055903, RCV003221798
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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 boy with Snyder-Robinson syndrome (MRXSSR; 309583), Peron et al. (2013) identified a c.200G-A transition in exon 3 of the SMS gene, resulting in a gly67-to-glu (G67E) substitution. No spermine synthase activity above baseline was detected in the patient's lymphoblastoid cells. The patient's mother was heterozygous for the mutation and X-inactivation analysis showed mild skewing. In addition to features characteristic of Snyder-Robinson syndrome, the patient also had an ectopic kidney and early-onset epilepsy. </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>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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<div>
|
|
<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Becerra-Solano, L. E., Butler, J., Castaneda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A. E., Schwartz, C. E., Sanchez-Corona, J., Garcia-Ortiz, J. E.
|
|
<strong>A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.</strong>
|
|
Am. J. Med. Genet. 149A: 328-335, 2009.
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|
|
[PubMed: 19206178]
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|
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[Full Text: https://doi.org/10.1002/ajmg.a.32641]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E.
|
|
<strong>X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.</strong>
|
|
Europ. J. Hum. Genet. 11: 937-944, 2003.
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[PubMed: 14508504]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201072]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
de Alencastro, G., McCloskey, D. E., Kliemann, S. E., Maranduba, C. M. C., Pegg, A. E., Wang, X., Bertola, D. A., Schwartz, C. E., Passos-Bueno, M. R., Sertie, A. L.
|
|
<strong>New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. (Letter)</strong>
|
|
J. Med. Genet. 45: 539-543, 2008.
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[PubMed: 18550699]
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[Full Text: https://doi.org/10.1136/jmg.2007.056713]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Grieff, M., Whyte, M. P., Thakker, R. V., Mazzarella, R.
|
|
<strong>Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5-prime region of PEX.</strong>
|
|
Genomics 44: 227-231, 1997.
|
|
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Korhonen, V. P., Halmekyto, M., Kauppinen, L., Myohanen, S., Wahlfors, J., Keinanen, T., Hyvonen, T., Alhonen, L., Eloranta, T., Janne, J.
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Lyon, M. F., Scriver, C. R., Baker, L. R. I., Tenenhouse, H. S., Kronick, J., Mandla, S.
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Meyer, R. A., Jr., Henley, C. M., Meyer, M. H., Morgan, P. L., McDonald, A. G., Mills, C., Price, D. K.
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<strong>Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, Gyro (Gy) mouse.</strong>
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Snyder, R. D., Robinson, A.
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<strong>Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: report of a family.</strong>
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Clin. Pediat. 8: 669-674, 1969.
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Wu, H., Min, J., Zeng, H., McCloskey, D. E., Ikeguchi, Y., Loppnau, P., Michael, A. J., Pegg, A. E., Plotnikov, A. N.
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Zhang, Z., Norris, J., Kalscheuer, V., Wood, T., Wang, L., Schwartz, C., Alexov, E., Van Esch, H.
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