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Entry
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- *607939 - SULFATASE-MODIFYING FACTOR 1; SUMF1
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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">*607939</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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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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/607939">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div 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=ENSG00000144455;t=ENST00000272902" 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=285362" 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=607939" 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 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=ENSG00000144455;t=ENST00000272902" 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_001164674,NM_001164675,NM_182760,XM_011533624,XM_011533625,XM_011533626,XM_017006252,XM_017006253,XM_017006254,XM_047448024,XM_047448025,XM_047448026,XR_007095664" 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_182760" 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=607939" 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=06399&isoform_id=06399_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/SUMF1" 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/16553976,22761561,30840149,32527651,34783013,37181290,38202250,51987654,62298562,84569991,111306476,111309238,119584310,119584311,194378504,194379762,220983392,257470975,257470977,767923038,767923040,767923042,1034632835,1034632837,1034632839,2217343557,2217343559,2217343561,2462589395,2462589397,2462589399,2462589401,2462589403,2462589407,2462589409,2462589411,2462589413" 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/Q8NBK3" 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=285362" 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=ENSG00000144455;t=ENST00000272902" 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=SUMF1" 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=SUMF1" 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+285362" 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/SUMF1" 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:285362" 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/285362" 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=chr3&hgg_gene=ENST00000720303.1&hgg_start=4034486&hgg_end=4467269&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:20376" 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:20376" 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/sumf1" 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=607939[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=607939[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000144455" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SUMF1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SUMF1" 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=SUMF1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SUMF1&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/PA134977552" 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:20376" 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/FBgn0035102.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1889844" 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/SUMF1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1889844" 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/285362/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=285362" 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-060421-3113" 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:285362" 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=SUMF1&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> 54898003<br />
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<strong>ICD10CM:</strong> E75.26<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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607939
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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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SULFATASE-MODIFYING FACTOR 1; SUMF1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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C-ALPHA-FORMYLGLYCINE-GENERATING ENZYME; FGE<br />
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FGLY-GENERATING ENZYME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SUMF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SUMF1</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/3/15?start=-3&limit=10&highlight=15">3p26.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:4034486-4467269&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'})">3:4,034,486-4,467,269</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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/15?start=-3&limit=10&highlight=15">
|
|
3p26.1
|
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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">
|
|
Multiple sulfatase deficiency
|
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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/272200"> 272200 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<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/607939" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The SUMF1 gene encodes an enzyme required for posttranslational modification and catalytic activation of the family of sulfatase enzymes. Sulfatase enzymes catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the FGly-generating enzyme (FGE), in the endoplasmic reticulum (ER) (summary by <a href="#5" class="mim-tip-reference" title="Roeser, D., Preusser-Kunze, A., Schmidt, B., Gasow, K., Wittmann, J. G., Dierks, T., von Figura, K., Rudolph, M. G. <strong>A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.</strong> Proc. Nat. Acad. Sci. 103: 81-86, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16368756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16368756</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16368756[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0507592102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16368756">Roeser et al. (2006)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16368756" 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="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> purified FGE from bovine testis. By searching sequence databases and RT-PCR using fibroblast RNA, they isolated a human cDNA encoding FGE, which they designated SUMF1. The deduced 374-amino acid protein contains a 33-residue signal sequence and an N-glycosylation site, and it has a tripartite domain structure. SUMF1 is conserved in prokaryotes and eukaryotes and shares 87% and 94% amino acid identity with its mouse and rat orthologs, respectively. Northern blot analysis detected a 2.1-kb transcript in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas, as well as in skin fibroblasts. Expression was highest in pancreas and kidney and lowest in brain. Immunofluorescence analysis showed colocalization of SUMF1 with a luminal protein of the ER. Western blot analysis indicated that SUMF1 has an apparent molecular mass of 42 to 44 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" 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>Independently, <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified the SUMF1 gene by functional complementation using microcell-mediated chromosome transfer. A SUMF1 paralog, SUMF2 (<a href="/entry/607940">607940</a>), shares 48% amino acid identity with SUMF1. Northern blot analysis detected SUMF1 expression in all tissues tested, with highest levels in kidney and liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> determined that the SUMF1 gene has 9 exons and spans 105 kb. The exon-intron structure is conserved in mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> mapped the SUMF1 gene to chromosome 3p26. They mapped the mouse Sumf1 gene to chromosome 6E2 in a region that shows homology of synteny to human chromosome 3p26. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" 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="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> observed functional conservation of SUMF1 among distantly related species, suggesting a critical biologic role. Coexpression of SUMF1 with sulfatases resulted in a synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. The authors concluded that these data have implications on the feasibility of enzyme replacement therapy for 8 distinct inborn errors of metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" 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="#5" class="mim-tip-reference" title="Roeser, D., Preusser-Kunze, A., Schmidt, B., Gasow, K., Wittmann, J. G., Dierks, T., von Figura, K., Rudolph, M. G. <strong>A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.</strong> Proc. Nat. Acad. Sci. 103: 81-86, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16368756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16368756</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16368756[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0507592102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16368756">Roeser et al. (2006)</a> stated that cys336 and cys341 within the active site are involved in the catalytic action of FGE. They examined the crystal structure of cys336-to-ser and cys341-to-ser mutants of FGE, as well as wildtype FGE modified by an SH-reactive agent or binding a peptide substrate. Their observations confirmed that the cys336/cys341 pair does not form a disulfide bond, predominantly due to the redox activity of cys336, which is fully oxidized to sulfonic acid in the wildtype enzyme. The negative potential of cys336 allows it to react with molecular oxygen as part of a novel oxygenase mechanism that does not rely on any cofactors. A substrate binding groove borders the cys336/cys341 pair, and cys341 stabilizes the substrate by forming a disulfide bond with a cysteine within the substrate peptide sequence. The binding groove requires the substrate to be elongated, providing further evidence that sulfatase modification in the ER occurs before folding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16368756" 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="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> identified 9 mutations in the SUMF1 gene in 7 patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>). The activity of sulfatases was partially restored in patient fibroblasts by transduction of SUMF1-encoding cDNA, but not by cDNA carrying an MSD mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified several mutations in the SUMF1 gene in 12 unrelated patients with MSD. They showed that SUMF1 was able to rescue the enzymatic deficiency in patients' cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" 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 20 patients with MSD of different ethnic origins, <a href="#3" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Parenti, G., Settembre, C., Annunziata, I., Wade-Martins, R., Di Domenico, C., Di Natale, P., Mankad, A., Cox, B., Uziel, G., Mancini, G. M. S., Zammarchi, E., Donati, M. A., Kleijer, W. J., Filocamo, M., Carrozzo, R., Carella, M., Ballabio, A. <strong>Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.</strong> Hum. Mutat. 23: 576-581, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146462</a>] [<a href="https://doi.org/10.1002/humu.20040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15146462">Cosma et al. (2004)</a> performed mutation analysis of the SUMF1 gene. The clinical presentation of these patients was variable, ranging from severe neonatal forms to mild phenotypes showing mild neurologic involvement. Twenty-two SUMF1 mutations were identified, including missense, nonsense, microdeletion, and splicing mutations. All missense mutations were expressed in culture to study their ability to enhance the activity of sulfatases. In 11 cases the predicted amino acid changes resulted in severely impaired sulfatase-enhancing activity. In the case of 2 mutations, high residual activity was observed on some, but not all, of the 9 sulfatases tested, suggesting that some SUMF1 mutations may have variable effects on the activity of each sulfatase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146462" 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="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> observed clear genotype/phenotype correlations among 10 patients with multiple sulfatase deficiency, including 1 with neonatal onset, 7 with severe late-infantile onset, and 2 with mild late-infantile onset. The most severely affected patient with neonatal onset had marked impairments in both SUMF1 stability and enzyme activity and was compound heterozygous for a splice site and a nonsense mutation (<a href="#0001">607939.0001</a> and <a href="#0003">607939.0003</a>, respectively). Sulfatase activities in this patient were almost undetectable. In contrast, 2 patients with mild late-infantile onset were homozygous for a missense mutation (G263V; <a href="#0018">607939.0018</a>), which showed the highest residual enzymatic activity among the studied variants despite decreased stability. Patients with the intermediate severe late-infantile form had mutations that compromised stability and caused low levels of residual activity (see, e.g., S155P; <a href="#0010">607939.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A. <strong>Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.</strong> Proc. Nat. Acad. Sci. 104: 4506-4511, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0700382104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360554">Settembre et al. (2007)</a> found that Sumf1-null mice displayed early mortality, congenital growth retardation, skeletal abnormalities, and neurologic deficits, similar to human patients with MSD. Massive lysosomal storage of glycosaminoglycans was observed in all tissues examined and was associated with systemic inflammation, apoptosis, and neurodegeneration. Sumf1-null mice completely lacked all sulfatase activities, indicating that mammals have a single sulfatase modification system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360554" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs775324176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs775324176;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs775324176?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs775324176" 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=rs775324176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified heterozygosity for a 4-bp deletion (GTAA) at position +5 of intron 3 of the SUMF1 gene. The mutation destroyed the splice donor site of intron 3, resulting in an in-frame deletion of exon 3 (residues 149 to 173). <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> referred to the mutation as IVS3+5-8del, while <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> referred to it as 519+4delGTAA. The patient reported by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> also had a C-to-A transversion at nucleotide 1076, resulting in a ser359-to-ter substitution (S359X; <a href="#0002">607939.0002</a>). The patient reported by <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> also had a C-to-T transition at nucleotide 979, resulting in an arg327-to-ter substitution (R327X; <a href="#0003">607939.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757706+12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> reported a patient with severe neonatal onset of MSD who was compound heterozygous for the intron 3 mutation and R327X (<a href="#0003">607939.0003</a>). Both mutations were predicted to be null mutations, but the splice site mutation was shown to retain about 0.3% residual activity. Patient fibroblasts showed severely reduced levels of SUMF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" 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 MULTIPLE SULFATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852844 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852844;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852844?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852844" 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=rs137852844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the ser359-to-ter (S359X) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0001">607939.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the arg327-to-ter (R327X) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a>, see <a href="#0001">607939.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" 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 MULTIPLE SULFATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852846 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852846;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852846?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852846" 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=rs137852846" 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=RCV000002785 OR RCV001582462" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002785, RCV001582462" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002785...</a>
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<p>In patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified homozygosity for a C-to-T transition at nucleotide 1045 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, arg349 to trp (R349W). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757706+12757705" 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 MULTIPLE SULFATASE DEFICIENCY</strong>
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SUMF1, ARG349GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852847;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852847?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852847" 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=rs137852847" 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=RCV000002786 OR RCV002243616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002786, RCV002243616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002786...</a>
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<p>In patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified compound heterozygosity for a G-to-A transition at nucleotide 1046 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, arg349 to gln (R349Q). The second mutation was a T-to-C transition at nucleotide 1006, resulting in the substitution of a conserved amino acid, cys336 to arg (C336R; <a href="#0006">607939.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757706+12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MULTIPLE SULFATASE DEFICIENCY</strong>
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SUMF1, CYS336ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852848;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=rs137852848" 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=rs137852848" 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=RCV000002787" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002787" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002787</a>
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<p>For discussion of the cys336-to-arg (C336R) mutation in the SUMF1 gene that was found in compound heterozygous state in patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0005">607939.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757706+12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 MULTIPLE SULFATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852849;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852849?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852849" 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=rs137852849" 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=RCV000002788 OR RCV000082716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002788, RCV000082716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002788...</a>
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<p>In a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> identified compound heterozygosity for a C-to-T transition at nucleotide 836 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, ala279 to val (A279V). The second mutation was a frameshift deletion of 1 bp (C) at nucleotide 243 (<a href="#0008">607939.0008</a>), resulting in a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" 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 patient with moderate MSD, <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified compound heterozygosity for the A279V mutation and a 1-bp deletion (A) at position -2 of intron 5 (603-2delA; <a href="#0016">607939.0016</a>), resulting in skipping of exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 MULTIPLE SULFATASE DEFICIENCY</strong>
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SUMF1, 1-BP DEL, 243C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2124822282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124822282;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=rs2124822282" 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=rs2124822282" 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=RCV000002789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002789</a>
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<p>For discussion of the 1-bp deletion in the SUMF1 gene (243delC) that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a>, see <a href="#0007">607939.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 MULTIPLE SULFATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs770241913 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770241913;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs770241913?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs770241913" 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=rs770241913" 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=RCV000002790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002790</a>
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<p>In a patient with severe neonatal multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#4" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified heterozygosity for a frameshift deletion of 1 bp (G) at nucleotide 661 of the SUMF1 gene, resulting in a truncated protein. The second mutation in this patient, who was originally reported by <a href="#1" class="mim-tip-reference" title="Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J. <strong>Multiple sulphatase deficiency presenting at birth.</strong> Clin. Genet. 30: 409-415, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100114</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01899.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3100114">Burch et al. (1986)</a>, was not identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757706+12757705+3100114" 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>.0010 MULTIPLE SULFATASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852850 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852850;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852850?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852850" 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=rs137852850" 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=RCV000002791 OR RCV000082715" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002791, RCV000082715" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002791...</a>
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<p>In 2 patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified homozygosity for a T-to-C transition at nucleotide 463 of the SUMF1 gene, resulting in a ser155-to-pro substitution (S155P). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> reported 3 patients with severe late-infantile onset of MSD who were homozygous for the S155P mutation. In vitro functional expression studies in fibrosarcoma cells showed that the mutant protein had reduced expression and was unstable, but localized to the ER and retained about 1.6% residual catalytic activity compared to wildtype. The mutant protein was not secreted into the medium, indicating that it was retained inside the cell and degraded, resulted in a loss of function. Patient fibroblasts showed severely reduced levels of SUMF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0011 MULTIPLE SULFATASE DEFICIENCY</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">rs137852851 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852851;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=rs137852851" 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=rs137852851" 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=RCV000002792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002792</a>
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<p>In a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified compound heterozygosity for a T-to-G transversion at nucleotide 2 of the SUMF1 gene, resulting in substitution of the initiator met codon, met1 to arg (M1R). The second mutation was a frameshift deletion of 1 bp (C) at nucleotide 276, resulting in a truncated protein (<a href="#0012">607939.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 MULTIPLE SULFATASE DEFICIENCY</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">rs2125134167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2125134167;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=rs2125134167" 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=rs2125134167" 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=RCV001942248" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001942248" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001942248</a>
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<p>For discussion of the 1-bp deletion in the SUMF1 gene (276delC) that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (<a href="/entry/272200">272200</a>) by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0011">607939.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0013" class="mim-anchor"></a>
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<strong>.0013 MULTIPLE SULFATASE DEFICIENCY</strong>
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SUMF1, ARG345CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852852;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852852?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852852" 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=rs137852852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002794" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002794" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002794</a>
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<p>In 2 patients with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified a C-to-T transition at nucleotide 1033 of the SUMF1 gene, resulting in an arg345-to-cys substitution (R345C). One patient was homozygous for the R345C mutation, while the other was compound heterozygous for R345C and a G-to-A transition at nucleotide 653, resulting in a cys218-to-tyr substitution (C218Y; <a href="#0015">607939.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> reported a patient with severe late-infantile onset of MSD who was homozygous for the R345C mutation. In vitro functional expression studies in fibrosarcoma cells showed that the mutant protein had normal expression and localized correctly to the ER, but was unstable and was secreted into the medium, The mutant protein retained about 2.0% residual catalytic activity compared to wildtype. Patient fibroblasts showed severely reduced levels of SUMF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0014" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0014 MULTIPLE SULFATASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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SUMF1, ALA348PRO
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852853 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852853;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=rs137852853" 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=rs137852853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002795</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified compound heterozygosity for a G-to-C transversion at nucleotide 1042 of the SUMF1 gene, resulting in an ala348-to-pro substitution (A348P). The second mutation was an A-to-G transition at nucleotide 1, resulting in a met1-to-val substitution (M1V; <a href="#0017">607939.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 MULTIPLE SULFATASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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SUMF1, CYS218TYR
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852854 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852854;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852854?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852854" 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=rs137852854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002796</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the cys218-to-tyr (C218Y) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (<a href="/entry/272200">272200</a>) by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0013">607939.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<div>
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<a id="0016" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0016 MULTIPLE SULFATASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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SUMF1, IVS5AS, 1-BP DEL, -2A
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1584599101 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1584599101;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=rs1584599101" 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=rs1584599101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002797" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002797" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002797</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion (A) at position -2 of intron 5 in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0007">607939.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 MULTIPLE SULFATASE DEFICIENCY</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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SUMF1, MET1VAL
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852855;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=rs137852855" 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=rs137852855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002798</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the met1-to-val (M1V) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>) by <a href="#2" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a>, see <a href="#0014">607939.0014</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<a id="0018" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0018 MULTIPLE SULFATASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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SUMF1, GLY263VAL
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906976 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906976;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=rs387906976" 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=rs387906976" 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=RCV000023667" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023667" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023667</a>
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<p>In 2 patients with mild late-infantile onset of multiple sulfatase deficiency (MSD; <a href="/entry/272200">272200</a>), <a href="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> identified a homozygous 788G-T transversion in the SUMF1 gene, resulting in a gly263-to-val (G263V) substitution in a highly conserved residues. In vitro functional expression studies showed that the mutant protein was expressed, correctly localized to the ER, and was secreted. However, the mutant protein showed decreased stability and reduced activity, at about 16% compared to wildtype. Patient fibroblasts showed reduced levels of SUMF1, but there were residual activities of several sulfatases. <a href="#6" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> suggested that the milder phenotype in these patients resulted from residual enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" 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="1" class="mim-anchor"></a>
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<a id="Burch1986" class="mim-anchor"></a>
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Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J.
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<strong>Multiple sulphatase deficiency presenting at birth.</strong>
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Clin. Genet. 30: 409-415, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3100114" 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/10.1111/j.1399-0004.1986.tb01899.x" target="_blank">Full Text</a>]
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Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A.
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<strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong>
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Cell 113: 445-456, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank">Full Text</a>]
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Cosma, M. P., Pepe, S., Parenti, G., Settembre, C., Annunziata, I., Wade-Martins, R., Di Domenico, C., Di Natale, P., Mankad, A., Cox, B., Uziel, G., Mancini, G. M. S., Zammarchi, E., Donati, M. A., Kleijer, W. J., Filocamo, M., Carrozzo, R., Carella, M., Ballabio, A.
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<strong>Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.</strong>
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Hum. Mutat. 23: 576-581, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20040" target="_blank">Full Text</a>]
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Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K.
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<strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong>
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Cell 113: 435-444, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12757705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank">Full Text</a>]
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Roeser, D., Preusser-Kunze, A., Schmidt, B., Gasow, K., Wittmann, J. G., Dierks, T., von Figura, K., Rudolph, M. G.
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<strong>A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.</strong>
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Proc. Nat. Acad. Sci. 103: 81-86, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16368756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16368756</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16368756[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=16368756" 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.0507592102" target="_blank">Full Text</a>]
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Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J.
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<strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong>
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Europ. J. Hum. Genet. 19: 253-261, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[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=21224894" 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/ejhg.2010.219" target="_blank">Full Text</a>]
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Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A.
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<strong>Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.</strong>
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Proc. Nat. Acad. Sci. 104: 4506-4511, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360554[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=17360554" 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.0700382104" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/7/2011
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Cassandra L. Kniffin - updated : 4/24/2007<br>Patricia A. Hartz - updated : 3/27/2006<br>Victor A. McKusick - updated : 6/15/2004
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Stylianos E. Antonarakis : 7/3/2003
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carol : 9/15/2015<br>mcolton : 8/17/2015<br>wwang : 7/21/2011<br>ckniffin : 7/7/2011<br>wwang : 4/30/2007<br>ckniffin : 4/24/2007<br>terry : 7/26/2006<br>wwang : 4/4/2006<br>terry : 3/27/2006<br>tkritzer : 6/23/2004<br>terry : 6/15/2004<br>cwells : 9/17/2003<br>mgross : 7/3/2003
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SULFATASE-MODIFYING FACTOR 1; SUMF1
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C-ALPHA-FORMYLGLYCINE-GENERATING ENZYME; FGE<br />
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<strong>SNOMEDCT:</strong> 54898003;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 3p26.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 3:4,034,486-4,467,269 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
3p26.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Multiple sulfatase deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
272200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The SUMF1 gene encodes an enzyme required for posttranslational modification and catalytic activation of the family of sulfatase enzymes. Sulfatase enzymes catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the FGly-generating enzyme (FGE), in the endoplasmic reticulum (ER) (summary by Roeser et al. (2006)). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Dierks et al. (2003) purified FGE from bovine testis. By searching sequence databases and RT-PCR using fibroblast RNA, they isolated a human cDNA encoding FGE, which they designated SUMF1. The deduced 374-amino acid protein contains a 33-residue signal sequence and an N-glycosylation site, and it has a tripartite domain structure. SUMF1 is conserved in prokaryotes and eukaryotes and shares 87% and 94% amino acid identity with its mouse and rat orthologs, respectively. Northern blot analysis detected a 2.1-kb transcript in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas, as well as in skin fibroblasts. Expression was highest in pancreas and kidney and lowest in brain. Immunofluorescence analysis showed colocalization of SUMF1 with a luminal protein of the ER. Western blot analysis indicated that SUMF1 has an apparent molecular mass of 42 to 44 kD. </p><p>Independently, Cosma et al. (2003) identified the SUMF1 gene by functional complementation using microcell-mediated chromosome transfer. A SUMF1 paralog, SUMF2 (607940), shares 48% amino acid identity with SUMF1. Northern blot analysis detected SUMF1 expression in all tissues tested, with highest levels in kidney and liver. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Dierks et al. (2003) determined that the SUMF1 gene has 9 exons and spans 105 kb. The exon-intron structure is conserved in mouse. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Dierks et al. (2003) mapped the SUMF1 gene to chromosome 3p26. They mapped the mouse Sumf1 gene to chromosome 6E2 in a region that shows homology of synteny to human chromosome 3p26. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Cosma et al. (2003) observed functional conservation of SUMF1 among distantly related species, suggesting a critical biologic role. Coexpression of SUMF1 with sulfatases resulted in a synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. The authors concluded that these data have implications on the feasibility of enzyme replacement therapy for 8 distinct inborn errors of metabolism. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Roeser et al. (2006) stated that cys336 and cys341 within the active site are involved in the catalytic action of FGE. They examined the crystal structure of cys336-to-ser and cys341-to-ser mutants of FGE, as well as wildtype FGE modified by an SH-reactive agent or binding a peptide substrate. Their observations confirmed that the cys336/cys341 pair does not form a disulfide bond, predominantly due to the redox activity of cys336, which is fully oxidized to sulfonic acid in the wildtype enzyme. The negative potential of cys336 allows it to react with molecular oxygen as part of a novel oxygenase mechanism that does not rely on any cofactors. A substrate binding groove borders the cys336/cys341 pair, and cys341 stabilizes the substrate by forming a disulfide bond with a cysteine within the substrate peptide sequence. The binding groove requires the substrate to be elongated, providing further evidence that sulfatase modification in the ER occurs before folding. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Dierks et al. (2003) identified 9 mutations in the SUMF1 gene in 7 patients with multiple sulfatase deficiency (MSD; 272200). The activity of sulfatases was partially restored in patient fibroblasts by transduction of SUMF1-encoding cDNA, but not by cDNA carrying an MSD mutation. </p><p>Cosma et al. (2003) identified several mutations in the SUMF1 gene in 12 unrelated patients with MSD. They showed that SUMF1 was able to rescue the enzymatic deficiency in patients' cell lines. </p><p>In 20 patients with MSD of different ethnic origins, Cosma et al. (2004) performed mutation analysis of the SUMF1 gene. The clinical presentation of these patients was variable, ranging from severe neonatal forms to mild phenotypes showing mild neurologic involvement. Twenty-two SUMF1 mutations were identified, including missense, nonsense, microdeletion, and splicing mutations. All missense mutations were expressed in culture to study their ability to enhance the activity of sulfatases. In 11 cases the predicted amino acid changes resulted in severely impaired sulfatase-enhancing activity. In the case of 2 mutations, high residual activity was observed on some, but not all, of the 9 sulfatases tested, suggesting that some SUMF1 mutations may have variable effects on the activity of each sulfatase. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Schlotawa et al. (2011) observed clear genotype/phenotype correlations among 10 patients with multiple sulfatase deficiency, including 1 with neonatal onset, 7 with severe late-infantile onset, and 2 with mild late-infantile onset. The most severely affected patient with neonatal onset had marked impairments in both SUMF1 stability and enzyme activity and was compound heterozygous for a splice site and a nonsense mutation (607939.0001 and 607939.0003, respectively). Sulfatase activities in this patient were almost undetectable. In contrast, 2 patients with mild late-infantile onset were homozygous for a missense mutation (G263V; 607939.0018), which showed the highest residual enzymatic activity among the studied variants despite decreased stability. Patients with the intermediate severe late-infantile form had mutations that compromised stability and caused low levels of residual activity (see, e.g., S155P; 607939.0010). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Settembre et al. (2007) found that Sumf1-null mice displayed early mortality, congenital growth retardation, skeletal abnormalities, and neurologic deficits, similar to human patients with MSD. Massive lysosomal storage of glycosaminoglycans was observed in all tissues examined and was associated with systemic inflammation, apoptosis, and neurodegeneration. Sumf1-null mice completely lacked all sulfatase activities, indicating that mammals have a single sulfatase modification system. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>18 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, IVS3DS, 4-BP DEL, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs775324176,
|
|
|
|
|
|
gnomAD: rs775324176,
|
|
|
|
|
|
ClinVar: RCV000002782
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with multiple sulfatase deficiency (MSD; 272200), Dierks et al. (2003) and Cosma et al. (2003) identified heterozygosity for a 4-bp deletion (GTAA) at position +5 of intron 3 of the SUMF1 gene. The mutation destroyed the splice donor site of intron 3, resulting in an in-frame deletion of exon 3 (residues 149 to 173). Dierks et al. (2003) referred to the mutation as IVS3+5-8del, while Cosma et al. (2003) referred to it as 519+4delGTAA. The patient reported by Cosma et al. (2003) also had a C-to-A transversion at nucleotide 1076, resulting in a ser359-to-ter substitution (S359X; 607939.0002). The patient reported by Dierks et al. (2003) also had a C-to-T transition at nucleotide 979, resulting in an arg327-to-ter substitution (R327X; 607939.0003). </p><p>Schlotawa et al. (2011) reported a patient with severe neonatal onset of MSD who was compound heterozygous for the intron 3 mutation and R327X (607939.0003). Both mutations were predicted to be null mutations, but the splice site mutation was shown to retain about 0.3% residual activity. Patient fibroblasts showed severely reduced levels of SUMF1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, SER359TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852844,
|
|
|
|
|
|
gnomAD: rs137852844,
|
|
|
|
|
|
ClinVar: RCV000002783
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ser359-to-ter (S359X) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; 272200) by Cosma et al. (2003), see 607939.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ARG327TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852845,
|
|
|
|
|
|
|
|
ClinVar: RCV000002784
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg327-to-ter (R327X) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; 272200) by Dierks et al. (2003), see 607939.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ARG349TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852846,
|
|
|
|
|
|
gnomAD: rs137852846,
|
|
|
|
|
|
ClinVar: RCV000002785, RCV001582462
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with multiple sulfatase deficiency (MSD; 272200), Dierks et al. (2003) and Cosma et al. (2003) identified homozygosity for a C-to-T transition at nucleotide 1045 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, arg349 to trp (R349W). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ARG349GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852847,
|
|
|
|
|
|
gnomAD: rs137852847,
|
|
|
|
|
|
ClinVar: RCV000002786, RCV002243616
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In patients with multiple sulfatase deficiency (MSD; 272200), Dierks et al. (2003) and Cosma et al. (2003) identified compound heterozygosity for a G-to-A transition at nucleotide 1046 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, arg349 to gln (R349Q). The second mutation was a T-to-C transition at nucleotide 1006, resulting in the substitution of a conserved amino acid, cys336 to arg (C336R; 607939.0006). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, CYS336ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852848,
|
|
|
|
|
|
|
|
ClinVar: RCV000002787
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the cys336-to-arg (C336R) mutation in the SUMF1 gene that was found in compound heterozygous state in patients with multiple sulfatase deficiency (MSD; 272200) by Dierks et al. (2003) and Cosma et al. (2003), see 607939.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ALA279VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852849,
|
|
|
|
|
|
gnomAD: rs137852849,
|
|
|
|
|
|
ClinVar: RCV000002788, RCV000082716
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with multiple sulfatase deficiency (MSD; 272200), Dierks et al. (2003) identified compound heterozygosity for a C-to-T transition at nucleotide 836 of the SUMF1 gene, resulting in the substitution of a conserved amino acid, ala279 to val (A279V). The second mutation was a frameshift deletion of 1 bp (C) at nucleotide 243 (607939.0008), resulting in a truncated protein. </p><p>In a patient with moderate MSD, Cosma et al. (2003) identified compound heterozygosity for the A279V mutation and a 1-bp deletion (A) at position -2 of intron 5 (603-2delA; 607939.0016), resulting in skipping of exon 5. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, 1-BP DEL, 243C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2124822282,
|
|
|
|
|
|
|
|
ClinVar: RCV000002789
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the SUMF1 gene (243delC) that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; 272200) by Dierks et al. (2003), see 607939.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, 1-BP DEL, 661G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770241913,
|
|
|
|
|
|
gnomAD: rs770241913,
|
|
|
|
|
|
ClinVar: RCV000002790
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with severe neonatal multiple sulfatase deficiency (MSD; 272200), Dierks et al. (2003) and Cosma et al. (2003) identified heterozygosity for a frameshift deletion of 1 bp (G) at nucleotide 661 of the SUMF1 gene, resulting in a truncated protein. The second mutation in this patient, who was originally reported by Burch et al. (1986), was not identified. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, SER155PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852850,
|
|
|
|
|
|
gnomAD: rs137852850,
|
|
|
|
|
|
ClinVar: RCV000002791, RCV000082715
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with multiple sulfatase deficiency (MSD; 272200), Cosma et al. (2003) identified homozygosity for a T-to-C transition at nucleotide 463 of the SUMF1 gene, resulting in a ser155-to-pro substitution (S155P). </p><p>Schlotawa et al. (2011) reported 3 patients with severe late-infantile onset of MSD who were homozygous for the S155P mutation. In vitro functional expression studies in fibrosarcoma cells showed that the mutant protein had reduced expression and was unstable, but localized to the ER and retained about 1.6% residual catalytic activity compared to wildtype. The mutant protein was not secreted into the medium, indicating that it was retained inside the cell and degraded, resulted in a loss of function. Patient fibroblasts showed severely reduced levels of SUMF1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, MET1ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852851,
|
|
|
|
|
|
|
|
ClinVar: RCV000002792
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with multiple sulfatase deficiency (MSD; 272200), Cosma et al. (2003) identified compound heterozygosity for a T-to-G transversion at nucleotide 2 of the SUMF1 gene, resulting in substitution of the initiator met codon, met1 to arg (M1R). The second mutation was a frameshift deletion of 1 bp (C) at nucleotide 276, resulting in a truncated protein (607939.0012). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, 1-BP DEL, 276C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2125134167,
|
|
|
|
|
|
|
|
ClinVar: RCV001942248
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the SUMF1 gene (276delC) that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (272200) by Cosma et al. (2003), see 607939.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ARG345CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852852,
|
|
|
|
|
|
gnomAD: rs137852852,
|
|
|
|
|
|
ClinVar: RCV000002794
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with multiple sulfatase deficiency (MSD; 272200), Cosma et al. (2003) identified a C-to-T transition at nucleotide 1033 of the SUMF1 gene, resulting in an arg345-to-cys substitution (R345C). One patient was homozygous for the R345C mutation, while the other was compound heterozygous for R345C and a G-to-A transition at nucleotide 653, resulting in a cys218-to-tyr substitution (C218Y; 607939.0015). </p><p>Schlotawa et al. (2011) reported a patient with severe late-infantile onset of MSD who was homozygous for the R345C mutation. In vitro functional expression studies in fibrosarcoma cells showed that the mutant protein had normal expression and localized correctly to the ER, but was unstable and was secreted into the medium, The mutant protein retained about 2.0% residual catalytic activity compared to wildtype. Patient fibroblasts showed severely reduced levels of SUMF1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, ALA348PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852853,
|
|
|
|
|
|
|
|
ClinVar: RCV000002795
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with multiple sulfatase deficiency (MSD; 272200), Cosma et al. (2003) identified compound heterozygosity for a G-to-C transversion at nucleotide 1042 of the SUMF1 gene, resulting in an ala348-to-pro substitution (A348P). The second mutation was an A-to-G transition at nucleotide 1, resulting in a met1-to-val substitution (M1V; 607939.0017). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, CYS218TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852854,
|
|
|
|
|
|
gnomAD: rs137852854,
|
|
|
|
|
|
ClinVar: RCV000002796
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the cys218-to-tyr (C218Y) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (272200) by Cosma et al. (2003), see 607939.0013. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, IVS5AS, 1-BP DEL, -2A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1584599101,
|
|
|
|
|
|
|
|
ClinVar: RCV000002797
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (A) at position -2 of intron 5 in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; 272200) by Cosma et al. (2003), see 607939.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, MET1VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852855,
|
|
|
|
|
|
|
|
ClinVar: RCV000002798
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the met1-to-val (M1V) mutation in the SUMF1 gene that was found in compound heterozygous state in a patient with multiple sulfatase deficiency (MSD; 272200) by Cosma et al. (2003), see 607939.0014. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 MULTIPLE SULFATASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SUMF1, GLY263VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906976,
|
|
|
|
|
|
|
|
ClinVar: RCV000023667
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients with mild late-infantile onset of multiple sulfatase deficiency (MSD; 272200), Schlotawa et al. (2011) identified a homozygous 788G-T transversion in the SUMF1 gene, resulting in a gly263-to-val (G263V) substitution in a highly conserved residues. In vitro functional expression studies showed that the mutant protein was expressed, correctly localized to the ER, and was secreted. However, the mutant protein showed decreased stability and reduced activity, at about 16% compared to wildtype. Patient fibroblasts showed reduced levels of SUMF1, but there were residual activities of several sulfatases. Schlotawa et al. (2011) suggested that the milder phenotype in these patients resulted from residual enzymatic activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J.
|
|
<strong>Multiple sulphatase deficiency presenting at birth.</strong>
|
|
Clin. Genet. 30: 409-415, 1986.
|
|
|
|
|
|
[PubMed: 3100114]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01899.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A.
|
|
<strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong>
|
|
Cell 113: 445-456, 2003.
|
|
|
|
|
|
[PubMed: 12757706]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(03)00348-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cosma, M. P., Pepe, S., Parenti, G., Settembre, C., Annunziata, I., Wade-Martins, R., Di Domenico, C., Di Natale, P., Mankad, A., Cox, B., Uziel, G., Mancini, G. M. S., Zammarchi, E., Donati, M. A., Kleijer, W. J., Filocamo, M., Carrozzo, R., Carella, M., Ballabio, A.
|
|
<strong>Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.</strong>
|
|
Hum. Mutat. 23: 576-581, 2004.
|
|
|
|
|
|
[PubMed: 15146462]
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[Full Text: https://doi.org/10.1002/humu.20040]
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Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K.
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<strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong>
|
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Cell 113: 435-444, 2003.
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[PubMed: 12757705]
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[Full Text: https://doi.org/10.1016/s0092-8674(03)00347-7]
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Roeser, D., Preusser-Kunze, A., Schmidt, B., Gasow, K., Wittmann, J. G., Dierks, T., von Figura, K., Rudolph, M. G.
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<strong>A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.</strong>
|
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Proc. Nat. Acad. Sci. 103: 81-86, 2006.
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[PubMed: 16368756]
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[Full Text: https://doi.org/10.1073/pnas.0507592102]
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Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J.
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<strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong>
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Europ. J. Hum. Genet. 19: 253-261, 2011.
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[PubMed: 21224894]
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[Full Text: https://doi.org/10.1038/ejhg.2010.219]
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Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A.
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<strong>Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.</strong>
|
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Proc. Nat. Acad. Sci. 104: 4506-4511, 2007.
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[PubMed: 17360554]
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[Full Text: https://doi.org/10.1073/pnas.0700382104]
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Cassandra L. Kniffin - updated : 7/7/2011<br>Cassandra L. Kniffin - updated : 4/24/2007<br>Patricia A. Hartz - updated : 3/27/2006<br>Victor A. McKusick - updated : 6/15/2004
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Stylianos E. Antonarakis : 7/3/2003
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