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Entry
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- *607423 - PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
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- OMIM
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<p>
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<span class="h4">*607423</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607423">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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 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=ENSG00000130714;t=ENST00000402686" 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=10585" 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=607423" 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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<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=ENSG00000130714;t=ENST00000402686" 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_001077365,NM_001077366,NM_001136113,NM_001136114,NM_001353193,NM_001353194,NM_001353195,NM_001353196,NM_001353197,NM_001353198,NM_001353199,NM_001353200,NM_001374689,NM_001374690,NM_001374691,NM_001374692,NM_001374693,NM_001374695,NM_001411024,NM_007171,NR_148391,NR_148392,NR_148393,NR_148394,NR_148395,NR_148396,NR_148397,NR_148398,NR_148399,NR_148400,XM_011518140,XM_011518141,XM_011518142,XM_011518143,XM_011518145,XM_047422640,XM_047422641,XM_047422642,XR_001746160,XR_007061226,XR_007061227,XR_007061228,XR_007061229,XR_007061230" 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_001077365" 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=607423" 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=06305&isoform_id=06305_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/POMT1" 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/5257116,5257133,7020589,22760625,40807183,45503626,62088440,116517315,116517317,119608380,119608381,119608382,119608383,119608384,127802598,193786699,194373821,194374231,194376482,194380478,194380618,194381936,194389100,194390734,209870082,209870084,332278226,332368173,767956063,767956065,767956067,767956069,767956073,1124885011,1172207745,1212974529,1212976090,1212983944,1212988472,1677501937,1677531299,1677537526,1677537800,1759490077,1759490340,1759490344,1759490360,1759490405,1759490467,1759490473,2217375137,2217375140,2217375146,2288045660,2462622187,2462622189,2462622193,2462622195,2462622197,2462622200,2462622203,2462622206,2522390387,2522390390" 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/Q9Y6A1" 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=10585" 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=ENSG00000130714;t=ENST00000402686" 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=POMT1" 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=POMT1" 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+10585" 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/POMT1" 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:10585" 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/10585" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000402686.8&hgg_start=131502918&hgg_end=131523799&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9202" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607423[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=607423[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/POMT1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000130714" 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=POMT1" 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=POMT1" 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=POMT1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/POMT1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=POMT1&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/PA33527" 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:9202" 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/FBgn0003292.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:2138994" 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/POMT1#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:2138994" 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/10585/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=10585" 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-060929-966" 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:10585" 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=POMT1&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> 720523006<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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607423
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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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PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT
|
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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=POMT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">POMT1</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/589?start=-3&limit=10&highlight=589">9q34.13</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:131502918-131523799&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:131,502,918-131,523,799</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=236670,613155,609308" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589">
|
|
9q34.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/236670"> 236670 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
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<p>The POMT1 gene encodes protein O-mannosyltransferase, an enzyme that catalyzes O-mannosylation of proteins, an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which, when mutated, causes defects in myogenesis and muscle structure (<a href="#9" class="mim-tip-reference" title="Jurado, L. A. P., Coloma, A., Cruces, J. <strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong> Genomics 58: 171-180, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366449</a>] [<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366449">Jurado et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using homology with Drosophila rt, <a href="#9" class="mim-tip-reference" title="Jurado, L. A. P., Coloma, A., Cruces, J. <strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong> Genomics 58: 171-180, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366449</a>] [<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366449">Jurado et al. (1999)</a> identified an EST for POMT1. By 5-prime cDNA walking performed by vector/insert PCR, and by anchor PCR of fetal brain RNA, they cloned the full-length POMT1 cDNA. The deduced 725-amino acid protein has a calculated molecular mass of about 82.5 kD. POMT1 contains 7 to 12 putative transmembrane regions and a C-terminal ER membrane retention signal. POMT1 shares 40% identity with rt, and it averages 54% similarity with the yeast Pmts. Northern blot analysis revealed a diffuse band of 3.1 to 3.2 kb in all tissues tested, with slightly stronger expression in skeletal muscle and heart. RNA dot blot analysis revealed ubiquitous expression, with maximum levels in testis and high levels in fetal brain and pituitary. By this method, expression in skeletal muscle and heart was not significantly higher than expression in other tissues. RT-PCR revealed several mRNA splice variants. Southern blot analysis indicated Pomt1 expression in all mammalian DNAs tested, as well as weak but specific signals in bird, reptile, and amphibian DNAs; no signal was detected in fish or plant DNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366449" 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="#9" class="mim-tip-reference" title="Jurado, L. A. P., Coloma, A., Cruces, J. <strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong> Genomics 58: 171-180, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366449</a>] [<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366449">Jurado et al. (1999)</a> determined that the POMT1 gene contains 20 exons and spans about 20 kb. The initiator ATG is located in exon 2. There are a variable number of 17- to 19-nucleotide tandem repeats within intron 13. <a href="#9" class="mim-tip-reference" title="Jurado, L. A. P., Coloma, A., Cruces, J. <strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong> Genomics 58: 171-180, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366449</a>] [<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366449">Jurado et al. (1999)</a> identified 8 different allelic variants carrying 36 to 56 repeats within normal chromosomes. The 56-repeat allele was the most frequent. Intron 2 also contains a (CA)n microsatellite. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10366449" 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 somatic cell hybrid analysis, radiation hybrid analysis, and linkage analysis, <a href="#9" class="mim-tip-reference" title="Jurado, L. A. P., Coloma, A., Cruces, J. <strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong> Genomics 58: 171-180, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10366449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10366449</a>] [<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10366449">Jurado et al. (1999)</a> mapped the POMT1 gene to chromosome 9q34.1. The POMT1 locus is flanked by markers D9S260 and D9S7293 on 9q34 (<a href="#3" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. <strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong> Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12369018">Beltran-Valero de Bernabe et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12369018+10366449" 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>Mutation in the POMT1 gene can cause 3 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A1; MDDGA1, <a href="/entry/236670">236670</a>), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with impaired intellectual development (type B1; MDDGB1; <a href="/entry/613115">613115</a>); and a milder limb-girdle form (type C1; MDDGC1; <a href="/entry/609308">609308</a>), previously designated LGMD2K (LGMDR11).</p><p><a href="#3" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. <strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong> Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12369018">Beltran-Valero de Bernabe et al. (2002)</a> identified several families in which Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities, was caused by mutation in the POMT1 gene (see <a href="#0001">607423.0001</a>-<a href="#0003">607423.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12369018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese boy with Walker-Warburg syndrome, <a href="#10" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. <strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong> Neurology 62: 1009-1011, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037715</a>] [<a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15037715">Kim et al. (2004)</a> identified a homozygous 3-bp deletion in the POMT1 gene (<a href="#0004">607423.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" 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 5 unrelated Turkish patients with autosomal recessive limb-girdle muscular dystrophy and mental retardation, but without structural brain abnormalities (MDDGC1; <a href="/entry/609308">609308</a>), <a href="#1" class="mim-tip-reference" title="Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H. <strong>An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.</strong> Neuromusc. Disord. 15: 271-275, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15792865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15792865</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15792865">Balci et al. (2005)</a> identified a homozygous founder mutation in the POMT1 gene (<a href="#0005">607423.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15792865" 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="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">Van Reeuwijk et al. (2006)</a> identified compound heterozygous mutations in the POMT1 gene (see, e.g., <a href="#0006">607423.0006</a>-<a href="#0009">607423.0009</a>) in 5 patients from 4 unrelated families with a milder form of WWS, referred to as 'congenital muscular dystrophy plus impaired intellectual development' (MDDGB1; <a href="/entry/613155">613155</a>). <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">Van Reeuwijk et al. (2006)</a> also identified 7 novel mutations in the POMT1 gene in 7 unrelated patients with classic WWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16575835" 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 3 unrelated patients with a severe form of congenital muscular dystrophy, <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a> identified compound heterozygous mutations in the POMT1 gene (<a href="#0010">607423.0010</a>-<a href="#0014">607423.0014</a>). None had structural brain abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others. <strong>Molecular heterogeneity in fetal forms of type II lissencephaly.</strong> Hum. Mutat. 28: 1020-1027, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17559086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17559086</a>] [<a href="https://doi.org/10.1002/humu.20561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17559086">Bouchet et al. (2007)</a> identified mutations in the POMT1 gene in 13 (32%) of 41 families in which at least 1 fetus had severe cobblestone cortex (type II lissencephaly), as observed in patients with WWS. The minimum diagnostic criteria included hydrocephalus, agyria, thickened leptomeninges filled with neuroglial ectopia, disorganized cortical ribbon, and cerebellar dysplasia. Mutations in the POMGNT1 (<a href="/entry/606822">606822</a>) and POMT2 (<a href="/entry/607439">607439</a>) genes were identified in 6 (15%) and 3 (7%) families, respectively. Overall, mutations were identified in 22 of 41 families included in the study. Definitive pathogenic mutations were not identified in the FKRP (<a href="/entry/606596">606596</a>), FKTN (<a href="/entry/607440">607440</a>), or LARGE (<a href="/entry/603590">603590</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17559086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. <strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong> Brain 130: 2725-2735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>] [<a href="https://doi.org/10.1093/brain/awm212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878207">Godfrey et al. (2007)</a> identified POMT1 mutations in 8 of 92 patients with evidence of a muscular dystrophy due to defective glycosylation of alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>). One patient had WWS, 1 had MEB (<a href="#0015">607423.0015</a>), 3 had congenital muscular dystrophy, and 3 had limb-girdle muscular dystrophy. All had low IQ and about half had structural brain abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified POMT1 mutations in 17 (21%) of 81 Italian patients with a dystroglycanopathy. Thirteen patients had muscular dystrophy, 2 had MEB, and 2 had WWS. Six patients had a normal MRI, 1 of whom had a severe dilated cardiomyopathy. All but 1 had mental retardation and microcephaly. No clear-cut genotype-phenotype correlations were observed; however, the more severe phenotypes appeared to be associated with mutations predicted to result in severe disruption of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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="#16" class="mim-tip-reference" title="Willer, T., Prados, B., Falcon-Perez, J. M., Renner-Muller, I., Przemeck, G. K. H., Lommel, M., Coloma, A., Valero, M. C., Hrabe de Angelis, M., Tanner, W., Wolf, E., Strahl, S., Cruces, J. <strong>Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.</strong> Proc. Nat. Acad. Sci. 101: 14126-14131, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 16081 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15383666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15383666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15383666[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.0405899101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15383666">Willer et al. (2004)</a> found that during embryogenesis, the mouse Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. They noted that these sites of expression correlate with those in which the main tissue alterations are observed in patients with Walker-Warburg syndrome. <a href="#16" class="mim-tip-reference" title="Willer, T., Prados, B., Falcon-Perez, J. M., Renner-Muller, I., Przemeck, G. K. H., Lommel, M., Coloma, A., Valero, M. C., Hrabe de Angelis, M., Tanner, W., Wolf, E., Strahl, S., Cruces, J. <strong>Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.</strong> Proc. Nat. Acad. Sci. 101: 14126-14131, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 16081 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15383666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15383666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15383666[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.0405899101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15383666">Willer et al. (2004)</a> inactivated a Pomt1 allele by gene targeting in mouse embryonic stem cells and produced chimeras transmitting the defect allele to offspring. Although heterozygous mice were viable and fertile, the total absence of homozygous Pomt1 -/- pups among the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal. Analysis of the mutant phenotype revealed that homozygous null mice suffered developmental arrest around embryonic day (E) 7.5 and died between E7.5 and E9.5. The Pomt1 -/- embryos presented defects in the formation of the Reichert membrane, the first basement membrane to form in the embryo. The Reichert membrane is a thick multilayered membrane between the parietal endoderm cells and the trophoblast cells of rodents; it is thought to function to allow free access of nutrients to the embryo while excluding maternal cells (<a href="#13" class="mim-tip-reference" title="Salamat, M., Miosge, N., Herken, R. <strong>Development of Reichert's membrane in the early mouse embryo.</strong> Anat. Embryol. 192: 275-281, 1995."None>Salamat et al., 1995</a>). The failure of this membrane to form in the Pomt1 -/- embryos appeared to be the result of abnormal glycosylation and maturation of dystroglycan that may impair recruitment of laminin (see <a href="/entry/150320">150320</a>), a structural component required for the formation of Reichert membrane in rodents. <a href="#16" class="mim-tip-reference" title="Willer, T., Prados, B., Falcon-Perez, J. M., Renner-Muller, I., Przemeck, G. K. H., Lommel, M., Coloma, A., Valero, M. C., Hrabe de Angelis, M., Tanner, W., Wolf, E., Strahl, S., Cruces, J. <strong>Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.</strong> Proc. Nat. Acad. Sci. 101: 14126-14131, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 16081 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15383666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15383666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15383666[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.0405899101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15383666">Willer et al. (2004)</a> concluded that the targeted disruption of Pomt1 in mouse represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15383666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</strong>
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<p>In a family with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), previously reported by <a href="#5" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. <strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong> Neurology 56: 1059-1069, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11320179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11320179</a>] [<a href="https://doi.org/10.1212/wnl.56.8.1059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11320179">Cormand et al. (2001)</a>, <a href="#3" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. <strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong> Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12369018">Beltran-Valero de Bernabe et al. (2002)</a> identified a homozygous transition, 226G-A, in exon 3 of the POMT1 gene, predicting a gly76-to-arg (G76R) substitution. The parents were first cousins of Turkish origin. After 3 spontaneous abortions, a male was born presenting with severe hydrocephalus with dilatation of the third and fourth ventricles and minimal cortical development, no visible gyri, bifid cerebellum, and hypoplasia of the vermis and of the cerebellar hemispheres. A cerebellar cyst was observed. The corpus callosum appeared to be present. Microphthalmia on the left and exophthalmia on the right were noted. The genitalia were hypoplastic. Serum creatine kinase levels were highly elevated at more than 2,000 U/l. The patient died at age 7 months. Another affected child, whose DNA was used for genetic analysis, died 15 minutes after birth. She presented with severe hydrocephaly, encephalocele, and bilateral cleft lip. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12369018+11320179" 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> rs119462981 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462981;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/rs119462981?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=rs119462981" 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=rs119462981" 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=RCV000003395 OR RCV001813941 OR RCV003231073 OR RCV003764521" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003395, RCV001813941, RCV003231073, RCV003764521" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003395...</a>
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<p>In affected members of 2 families of Turkish origin with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), previously reported by <a href="#5" class="mim-tip-reference" title="Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E. <strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong> Neurology 56: 1059-1069, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11320179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11320179</a>] [<a href="https://doi.org/10.1212/wnl.56.8.1059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11320179">Cormand et al. (2001)</a>, <a href="#3" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. <strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong> Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12369018">Beltran-Valero de Bernabe et al. (2002)</a> identified homozygosity for a 907C-T transition in exon 9 of the POMT1 gene, resulting in a gln303-to-ter (Q303X) substitution. Both families were consanguineous. In 1 family, 3 sibs had WWS: a girl who died at age 3 years and 2 fetuses. The deceased girl had cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, and retinal dysplasia. Serum creatine kinase was increased. One fetus had an encephalocele. In the second family, there was 1 affected girl who died at age 2 months. She presented with severe hydrocephalic ventricular dilatation, hypoplasia of vermis and cerebellum, cyst formation in the posterior fossa, and a Dandy-Walker-like malformation. Eye malformations included bilateral buphthalmos, bilateral glaucoma, and hypertelorism. Serum CK levels were significantly increased. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12369018+11320179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</strong>
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<p>In a nonconsanguineous Italian family with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), <a href="#3" class="mim-tip-reference" title="Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. <strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong> Am. J. Hum. Genet. 71: 1033-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12369018">Beltran-Valero de Bernabe et al. (2002)</a> identified homozygosity for a frameshift mutation, 2110insG, in exon 20 of the POMT1 gene, which was predicted to cause a replacement of 44 highly conserved C-terminal amino acids by 26 irrelevant ones following val703. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12369018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Messina, S., Mora, M., Pegoraro, E., Pina, A., Mongini, T., D'Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., and 17 others. <strong>POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.</strong> Neuromusc. Disord. 18: 565-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513969</a>] [<a href="https://doi.org/10.1016/j.nmd.2008.04.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18513969">Messina et al. (2008)</a> and <a href="#11" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> referred to this mutation as 2111insG, resulting in a frameshift (Ala704GlyfsTer27). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18513969+19299310" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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">rs587777818 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777818;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=rs587777818" 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=rs587777818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Japanese boy with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), <a href="#10" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. <strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong> Neurology 62: 1009-1011, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037715</a>] [<a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15037715">Kim et al. (2004)</a> identified a homozygous 3-bp deletion (1260delCCT) in the POMT1 gene, resulting in the deletion of a highly conserved leucine at codon 421. The mutation was not identified in 100 Japanese controls. Prenatal studies showed a meningoencephalocele. At birth, the boy showed hypotonia, hydrocephalus, mild microphthalmia, and corneal clouding. Serum creatine kinase levels were markedly elevated to 600 to 31,000 IU/L. He had markedly delayed milestones, with inability to control his head, roll over, or sit. Brain MRI showed agyric frontal and temporo-occipital lobes mixed with pachygyric parietal cortex, as well as hypoplasia of the brainstem and cerebellum. Muscle biopsy showed marked increase in fatty tissue with evidence of necrosis and regeneration, hypoglycosylation of alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>), and defective laminin binding. <a href="#10" class="mim-tip-reference" title="Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I. <strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong> Neurology 62: 1009-1011, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037715</a>] [<a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15037715">Kim et al. (2004)</a> noted that the patient showed exceptionally long survival for WWS, up to 3.5 years, and thus could be considered to have an intermediate phenotype between WWS and muscle-eye-brain disease; however, the presence of a meningoencephalocele was more consistent with WWS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</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> rs119462982 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462982;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/rs119462982?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=rs119462982" 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=rs119462982" 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=RCV000003399 OR RCV000179928 OR RCV001264826 OR RCV001385876 OR RCV001813942 OR RCV003234890 OR RCV003472966" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003399, RCV000179928, RCV001264826, RCV001385876, RCV001813942, RCV003234890, RCV003472966" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003399...</a>
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<p>In 5 unrelated Turkish patients with limb-girdle muscular dystrophy and mental retardation (MDDGC1; <a href="/entry/609308">609308</a>), some of whom were described by <a href="#7" class="mim-tip-reference" title="Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H. <strong>A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.</strong> Neuromusc. Disord. 13: 771-778, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14678799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14678799</a>] [<a href="https://doi.org/10.1016/s0960-8966(03)00161-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14678799">Dincer et al. (2003)</a>, <a href="#1" class="mim-tip-reference" title="Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H. <strong>An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.</strong> Neuromusc. Disord. 15: 271-275, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15792865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15792865</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15792865">Balci et al. (2005)</a> identified a homozygous 598G-C transversion in exon 7 of the POMT1 gene, resulting in an ala200-to-pro (A200P) substitution in a highly conserved residue in loop 4 of a cytoplasmic domain of the protein. All patients were born of consanguineous parents. The mutation was not identified in 212 control chromosomes. <a href="#1" class="mim-tip-reference" title="Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H. <strong>An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.</strong> Neuromusc. Disord. 15: 271-275, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15792865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15792865</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.01.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15792865">Balci et al. (2005)</a> noted that A200P was the first reported POMT1 mutation within the cytoplasmic domain and that the phenotype associated with this mutation is significantly milder than Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), which is caused by other POMT1 mutations (see, e.g., <a href="#0001">607423.0001</a>). Most significantly, none of the patients with the A200P mutation had structural brain abnormalities on imaging that would signify a cortical migration defect. Haplotype analysis indicated that A200P is a common founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14678799+15792865" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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> rs119462983 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462983;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/rs119462983?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=rs119462983" 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=rs119462983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Italian sibs with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; <a href="/entry/613155">613155</a>), originally reported by <a href="#15" class="mim-tip-reference" title="Villanova, M., Mercuri, E., Bertini, E., Sabatelli, P., Morandi, L., Mora, M., Sewry, C., Brockington, M., Brown, S. C., Ferreiro, A., Maraldi, N. M., Toda, T., Guicheney, P., Merlini, L., Muntoni, F. <strong>Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.</strong> Neuromusc. Disord. 10: 541-547, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053679</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00139-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053679">Villanova et al. (2000)</a>, <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">van Reeuwijk et al. (2006)</a> identified compound heterozygosity for 2 mutations in the POMT1 gene: a 193G-A transition, resulting in a gly65-to-arg (G65R) substitution, and a 1746G-C transversion, resulting in a trp582-to-cys (W582C; <a href="#0007">607423.0007</a>) substitution. The G65R substitution occurs within the protein mannosyltransferase (PMT) domain but is not highly conserved, whereas the W582C substitution affects a highly conserved residue in the endoplasmic reticulum domain. <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">Van Reeuwijk et al. (2006)</a> suggested that the relatively milder phenotype observed in these patients, compared to those with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>) was due to some residual POMT1 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16575835+11053679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified a homozygous G65R mutation in an Italian patient with POMT1-related muscular dystrophy, microcephaly, and mental retardation. Brain MRI was normal. The G65R mutation was found in compound heterozygosity with another POMT1 mutation in 4 additional patients with a similar phenotype, although some had cerebellar hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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">rs119462984 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462984;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=rs119462984" 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=rs119462984" 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=RCV002286388 OR RCV002512704" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002286388, RCV002512704" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002286388...</a>
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<p>For discussion of the trp582-to-cys (W582C) mutation in the POMT1 gene that was found in compound heterozygous state in patients with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; <a href="/entry/613155">613155</a>) by <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">van Reeuwijk et al. (2006)</a>, see <a href="#0006">607423.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16575835" 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>.0008 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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> rs119462985 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462985;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/rs119462985?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=rs119462985" 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=rs119462985" 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=RCV000760355 OR RCV001851614 OR RCV002286390 OR RCV005041976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000760355, RCV001851614, RCV002286390, RCV005041976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000760355...</a>
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<p>In an Italian patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; <a href="/entry/613155">613155</a>), originally reported by <a href="#15" class="mim-tip-reference" title="Villanova, M., Mercuri, E., Bertini, E., Sabatelli, P., Morandi, L., Mora, M., Sewry, C., Brockington, M., Brown, S. C., Ferreiro, A., Maraldi, N. M., Toda, T., Guicheney, P., Merlini, L., Muntoni, F. <strong>Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.</strong> Neuromusc. Disord. 10: 541-547, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053679</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00139-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053679">Villanova et al. (2000)</a>, <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">van Reeuwijk et al. (2006)</a> identified compound heterozygosity for 2 mutations in the POMT1 gene: a 1540C-T transition, resulting in an arg514-to-ter (R514X) substitution in the 3-prime MIR region, and a 1770G-C transversion, resulting in gln590-to-his (Q590H; <a href="#0009">607423.0009</a>) substitution in a highly conserved residue. <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">Van Reeuwijk et al. (2006)</a> suggested that the relatively milder phenotype, compared to those with Walker-Warburg syndrome (MDDGA1; <a href="/entry/236670">236670</a>), observed in this patient was due to some residual POMT1 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16575835+11053679" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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> rs119462986 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462986;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/rs119462986?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=rs119462986" 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=rs119462986" 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=RCV000175324 OR RCV002286391 OR RCV003323349 OR RCV003764522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000175324, RCV002286391, RCV003323349, RCV003764522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000175324...</a>
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<p>For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; <a href="/entry/613155">613155</a>) by <a href="#14" class="mim-tip-reference" title="van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H. <strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong> Hum. Mutat. 27: 453-459, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>] [<a href="https://doi.org/10.1002/humu.20313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16575835">van Reeuwijk et al. (2006)</a>, see <a href="#0008">607423.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16575835" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002286389 OR RCV002512705 OR RCV003460408" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002286389, RCV002512705, RCV003460408" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002286389...</a>
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<p>In 2 unrelated children with a severe form of muscular dystrophy (MDDGB1; <a href="/entry/613155">613155</a>), <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a> identified compound heterozygosity for 2 mutations in the POMT1 gene. Both children had a gly64-to-arg (G65R) substitution in a moderately conserved residue, as well as another pathogenic POMT1 mutation, R541X (<a href="#0011">607423.0011</a>) and Q590H (<a href="#0012">607423.0012</a>), respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" 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> rs119462985 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462985;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/rs119462985?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=rs119462985" 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=rs119462985" 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=RCV000760355 OR RCV001851614 OR RCV002286390 OR RCV005041976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000760355, RCV001851614, RCV002286390, RCV005041976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000760355...</a>
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<p>For discussion of the arg541-to-ter (R541X) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; <a href="/entry/613155">613155</a>) by <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a>, see <a href="#0010">607423.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" 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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
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POMT1, GLN590HIS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000175324 OR RCV002286391 OR RCV003323349 OR RCV003764522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000175324, RCV002286391, RCV003323349, RCV003764522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000175324...</a>
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<p>For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; <a href="/entry/613155">613155</a>) by <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a>, see <a href="#0010">607423.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" 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>.0013 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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> rs119462987 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119462987;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/rs119462987?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=rs119462987" 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=rs119462987" 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=RCV000414180 OR RCV000694423 OR RCV002286394 OR RCV003460409" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000414180, RCV000694423, RCV002286394, RCV003460409" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000414180...</a>
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<p>In a patient with a severe form of muscular dystrophy (MDDGB1; <a href="/entry/613155">613155</a>), <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a> identified compound heterozygosity for an ala669-to-thr (A669T) substitution in a transmembrane domain and a splice site mutation (<a href="#0014">607423.0014</a>) in the POMT1 gene. <a href="#2" class="mim-tip-reference" title="Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E. <strong>Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.</strong> Europ. J. Hum. Genet. 20: 1234-1239, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22549409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22549409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22549409[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.2012.71" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22549409">Bello et al. (2012)</a> reported that this patient developed cardiomyopathy with moderate left ventricular dysfunction at age 17 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22549409+16717220" 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>.0014 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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> rs1051679985 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1051679985;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/rs1051679985?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=rs1051679985" 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=rs1051679985" 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=RCV001383583 OR RCV002286395 OR RCV003472967 OR RCV005055502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001383583, RCV002286395, RCV003472967, RCV005055502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001383583...</a>
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<p>For discussion of the splice site mutation in the POMT1 gene that was found in compound heterozygous state in a patient with a severe form of muscular dystrophy (MDDGB1; <a href="/entry/613155">613155</a>) by <a href="#6" class="mim-tip-reference" title="D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E. <strong>Expanding the clinical spectrum of POMT1 phenotype.</strong> Neurology 66: 1564-1567, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>] [<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16717220">D'Amico et al. (2006)</a>, see <a href="#0013">607423.0013</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" 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>.0015 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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">rs587777819 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777819;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=rs587777819" 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=rs587777819" 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=RCV000003408 OR RCV000150016 OR RCV000587199 OR RCV005041977" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003408, RCV000150016, RCV000587199, RCV005041977" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003408...</a>
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<p>In a patient with muscle-eye-brain disease (MDDGA1; <a href="/entry/236670">236670</a>), <a href="#8" class="mim-tip-reference" title="Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others. <strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong> Brain 130: 2725-2735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>] [<a href="https://doi.org/10.1093/brain/awm212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878207">Godfrey et al. (2007)</a> identified a homozygous 2-bp deletion in the POMT1 gene (2179delTC), predicted to result in a frameshift. Although clinical details were limited, the patient had prenatal onset, increased serum creatine kinase, contractures, congenital glaucoma, microcephaly, and low IQ. Brain MRI showed hydrocephalus, brainstem involvement, white matter abnormalities, cerebellar hypoplasia, and cerebellar cysts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" 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>.0017 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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">rs587777820 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777820;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=rs587777820" 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=rs587777820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Italian patient with muscle-eye-brain disease (MDDGA1; <a href="/entry/236670">236670</a>), <a href="#11" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a> identified compound heterozygosity for 2 mutations in the POMT1 gene: a 3-bp deletion (418delATG) and a 1-bp duplication (2167dupG; <a href="#0018">607423.0018</a>). The mutations were predicted to result in a deletion of met140 and a frameshift, respectively. Although clinical details were limited, the patient had microcephaly, mental retardation, myopia, and seizures, achieved sitting only, and had significantly increased serum creatine kinase with decreased alpha-dystroglycan staining on muscle biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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">rs398124245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398124245;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=rs398124245" 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=rs398124245" 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=RCV000003411 OR RCV000081487 OR RCV000546035 OR RCV000778874 OR RCV001391256 OR RCV002496244 OR RCV002512706 OR RCV003225921 OR RCV003398430 OR RCV003447841" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003411, RCV000081487, RCV000546035, RCV000778874, RCV001391256, RCV002496244, RCV002512706, RCV003225921, RCV003398430, RCV003447841" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003411...</a>
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<p>For discussion of the 1-bp duplication in the POMT1 gene (2167dupG) that was found in compound heterozygous state in a patient with muscle-eye-brain disease (MDDGA1; <a href="/entry/236670">236670</a>) by <a href="#11" class="mim-tip-reference" title="Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others. <strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong> Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>] [<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19299310">Mercuri et al. (2009)</a>, see <a href="#0017">607423.0017</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0019 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</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">rs397514501 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514501;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=rs397514501" 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=rs397514501" 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=RCV000032629" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032629" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032629</a>
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<p>In a 20-year-old man with limb-girdle muscular dystrophy (MDDGC1; <a href="/entry/609308">609308</a>), <a href="#2" class="mim-tip-reference" title="Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E. <strong>Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.</strong> Europ. J. Hum. Genet. 20: 1234-1239, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22549409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22549409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22549409[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.2012.71" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22549409">Bello et al. (2012)</a> identified compound heterozygosity for 2 mutations in the POMT1 gene: a 430A-G transition resulting in an asn144-to-asp (N144D) substitution at a conserved residue in a transmembrane helix, and a 1241C-T transition resulting in a thr414-to-met (T414M; <a href="#0020">607423.0020</a>) substitution at a conserved residue in an MIR domain. Neither mutation was found in 110 control chromosomes. Both mutations were predicted to be destabilizing or pathogenic. The patient had normal psychomotor development, mild cognitive impairment, and proximal muscle weakness, and developed cardiomyopathy at age 12 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22549409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</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> rs397515400 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515400;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/rs397515400?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=rs397515400" 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=rs397515400" 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=RCV000032630" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032630" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032630</a>
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<p>For discussion of the thr414-to-met (T414M) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy (MDDGC1; <a href="/entry/609308">609308</a>) by <a href="#2" class="mim-tip-reference" title="Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E. <strong>Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.</strong> Europ. J. Hum. Genet. 20: 1234-1239, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22549409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22549409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22549409[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.2012.71" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22549409">Bello et al. (2012)</a>, see <a href="#0019">607423.0019</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22549409" 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="Balci2005" class="mim-anchor"></a>
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<strong>An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.</strong>
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Neuromusc. Disord. 15: 271-275, 2005.
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[<a href="https://doi.org/10.1016/j.nmd.2005.01.013" target="_blank">Full Text</a>]
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<a id="Bello2012" class="mim-anchor"></a>
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Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E.
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<strong>Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22549409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22549409</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22549409[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=22549409" 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.2012.71" target="_blank">Full Text</a>]
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Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G.
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<strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong>
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Am. J. Hum. Genet. 71: 1033-1043, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12369018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12369018</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12369018[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=12369018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/342975" target="_blank">Full Text</a>]
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<a id="Bouchet2007" class="mim-anchor"></a>
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Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others.
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<strong>Molecular heterogeneity in fetal forms of type II lissencephaly.</strong>
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Hum. Mutat. 28: 1020-1027, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17559086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17559086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17559086" 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.20561" target="_blank">Full Text</a>]
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Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E.
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<strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong>
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Neurology 56: 1059-1069, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11320179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11320179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11320179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.56.8.1059" target="_blank">Full Text</a>]
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<a id="D'Amico2006" class="mim-anchor"></a>
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D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E.
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<strong>Expanding the clinical spectrum of POMT1 phenotype.</strong>
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Neurology 66: 1564-1567, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16717220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16717220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16717220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36" target="_blank">Full Text</a>]
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<a id="Dincer2003" class="mim-anchor"></a>
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Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H.
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<strong>A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.</strong>
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Neuromusc. Disord. 13: 771-778, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14678799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14678799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14678799" 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/s0960-8966(03)00161-5" target="_blank">Full Text</a>]
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<strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong>
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Brain 130: 2725-2735, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awm212" target="_blank">Full Text</a>]
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<strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong>
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[<a href="https://doi.org/10.1006/geno.1999.5819" target="_blank">Full Text</a>]
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Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I.
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<strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong>
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Neurology 62: 1009-1011, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15037715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000115386.28769.65" target="_blank">Full Text</a>]
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<a id="Mercuri2009" class="mim-anchor"></a>
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Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others.
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<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
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Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19299310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19299310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19299310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000346518.68110.60" target="_blank">Full Text</a>]
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<a id="Messina2008" class="mim-anchor"></a>
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<div class="">
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Messina, S., Mora, M., Pegoraro, E., Pina, A., Mongini, T., D'Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., and 17 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513969" 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/j.nmd.2008.04.004" target="_blank">Full Text</a>]
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<a id="Salamat1995" class="mim-anchor"></a>
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<a id="van Reeuwijk2006" class="mim-anchor"></a>
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<div class="">
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van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H.
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<strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16575835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16575835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16575835" 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.20313" target="_blank">Full Text</a>]
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<a id="Villanova2000" class="mim-anchor"></a>
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Villanova, M., Mercuri, E., Bertini, E., Sabatelli, P., Morandi, L., Mora, M., Sewry, C., Brockington, M., Brown, S. C., Ferreiro, A., Maraldi, N. M., Toda, T., Guicheney, P., Merlini, L., Muntoni, F.
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<strong>Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.</strong>
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Neuromusc. Disord. 10: 541-547, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11053679" 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/s0960-8966(00)00139-5" target="_blank">Full Text</a>]
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Willer, T., Prados, B., Falcon-Perez, J. M., Renner-Muller, I., Przemeck, G. K. H., Lommel, M., Coloma, A., Valero, M. C., Hrabe de Angelis, M., Tanner, W., Wolf, E., Strahl, S., Cruces, J.
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<strong>Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.</strong>
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Proc. Nat. Acad. Sci. 101: 14126-14131, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 16081 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15383666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15383666</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15383666[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=15383666" 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.0405899101" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 2/4/2013
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Cassandra L. Kniffin - updated : 11/8/2010<br>Cassandra L. Kniffin - updated : 11/1/2007<br>Cassandra L. Kniffin - updated : 9/17/2007<br>Cassandra L. Kniffin - updated : 5/18/2006<br>Cassandra L. Kniffin - updated : 4/13/2005<br>Victor A. McKusick - updated : 12/2/2004<br>Cassandra L. Kniffin - updated : 8/27/2004<br>Victor A. McKusick - updated : 12/23/2002
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 12/13/2002
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 08/19/2020
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<span class="mim-text-font">
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carol : 10/09/2019<br>carol : 09/25/2018<br>joanna : 06/29/2016<br>alopez : 4/30/2015<br>mcolton : 4/17/2015<br>carol : 10/24/2014<br>carol : 10/20/2014<br>mcolton : 10/16/2014<br>carol : 10/15/2014<br>carol : 8/5/2013<br>carol : 7/12/2013<br>carol : 2/7/2013<br>ckniffin : 2/4/2013<br>terry : 9/28/2011<br>ckniffin : 11/17/2010<br>carol : 11/10/2010<br>ckniffin : 11/8/2010<br>ckniffin : 12/4/2009<br>wwang : 11/26/2007<br>wwang : 11/5/2007<br>ckniffin : 11/1/2007<br>wwang : 9/24/2007<br>ckniffin : 9/17/2007<br>wwang : 5/24/2006<br>ckniffin : 5/18/2006<br>tkritzer : 4/14/2005<br>ckniffin : 4/13/2005<br>carol : 12/21/2004<br>carol : 12/14/2004<br>tkritzer : 12/10/2004<br>terry : 12/2/2004<br>tkritzer : 9/7/2004<br>ckniffin : 8/27/2004<br>carol : 12/23/2002<br>terry : 12/23/2002<br>mgross : 12/17/2002<br>mgross : 12/13/2002
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<span class="mim-font">
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<strong>*</strong> 607423
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PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1
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<em>Alternative titles; symbols</em>
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ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: POMT1</em></strong>
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<strong>SNOMEDCT:</strong> 720523006;
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Cytogenetic location: 9q34.13
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:131,502,918-131,523,799 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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9q34.13
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<span class="mim-font">
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
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<span class="mim-font">
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236670
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
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<span class="mim-font">
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613155
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
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<span class="mim-font">
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609308
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The POMT1 gene encodes protein O-mannosyltransferase, an enzyme that catalyzes O-mannosylation of proteins, an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which, when mutated, causes defects in myogenesis and muscle structure (Jurado et al., 1999). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Using homology with Drosophila rt, Jurado et al. (1999) identified an EST for POMT1. By 5-prime cDNA walking performed by vector/insert PCR, and by anchor PCR of fetal brain RNA, they cloned the full-length POMT1 cDNA. The deduced 725-amino acid protein has a calculated molecular mass of about 82.5 kD. POMT1 contains 7 to 12 putative transmembrane regions and a C-terminal ER membrane retention signal. POMT1 shares 40% identity with rt, and it averages 54% similarity with the yeast Pmts. Northern blot analysis revealed a diffuse band of 3.1 to 3.2 kb in all tissues tested, with slightly stronger expression in skeletal muscle and heart. RNA dot blot analysis revealed ubiquitous expression, with maximum levels in testis and high levels in fetal brain and pituitary. By this method, expression in skeletal muscle and heart was not significantly higher than expression in other tissues. RT-PCR revealed several mRNA splice variants. Southern blot analysis indicated Pomt1 expression in all mammalian DNAs tested, as well as weak but specific signals in bird, reptile, and amphibian DNAs; no signal was detected in fish or plant DNAs. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jurado et al. (1999) determined that the POMT1 gene contains 20 exons and spans about 20 kb. The initiator ATG is located in exon 2. There are a variable number of 17- to 19-nucleotide tandem repeats within intron 13. Jurado et al. (1999) identified 8 different allelic variants carrying 36 to 56 repeats within normal chromosomes. The 56-repeat allele was the most frequent. Intron 2 also contains a (CA)n microsatellite. </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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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By somatic cell hybrid analysis, radiation hybrid analysis, and linkage analysis, Jurado et al. (1999) mapped the POMT1 gene to chromosome 9q34.1. The POMT1 locus is flanked by markers D9S260 and D9S7293 on 9q34 (Beltran-Valero de Bernabe et al., 2002). </p>
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<div>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Mutation in the POMT1 gene can cause 3 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A1; MDDGA1, 236670), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with impaired intellectual development (type B1; MDDGB1; 613115); and a milder limb-girdle form (type C1; MDDGC1; 609308), previously designated LGMD2K (LGMDR11).</p><p>Beltran-Valero de Bernabe et al. (2002) identified several families in which Walker-Warburg syndrome (MDDGA1; 236670), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities, was caused by mutation in the POMT1 gene (see 607423.0001-607423.0003). </p><p>In a Japanese boy with Walker-Warburg syndrome, Kim et al. (2004) identified a homozygous 3-bp deletion in the POMT1 gene (607423.0004). </p><p>In 5 unrelated Turkish patients with autosomal recessive limb-girdle muscular dystrophy and mental retardation, but without structural brain abnormalities (MDDGC1; 609308), Balci et al. (2005) identified a homozygous founder mutation in the POMT1 gene (607423.0005). </p><p>Van Reeuwijk et al. (2006) identified compound heterozygous mutations in the POMT1 gene (see, e.g., 607423.0006-607423.0009) in 5 patients from 4 unrelated families with a milder form of WWS, referred to as 'congenital muscular dystrophy plus impaired intellectual development' (MDDGB1; 613155). Van Reeuwijk et al. (2006) also identified 7 novel mutations in the POMT1 gene in 7 unrelated patients with classic WWS. </p><p>In 3 unrelated patients with a severe form of congenital muscular dystrophy, D'Amico et al. (2006) identified compound heterozygous mutations in the POMT1 gene (607423.0010-607423.0014). None had structural brain abnormalities. </p><p>Bouchet et al. (2007) identified mutations in the POMT1 gene in 13 (32%) of 41 families in which at least 1 fetus had severe cobblestone cortex (type II lissencephaly), as observed in patients with WWS. The minimum diagnostic criteria included hydrocephalus, agyria, thickened leptomeninges filled with neuroglial ectopia, disorganized cortical ribbon, and cerebellar dysplasia. Mutations in the POMGNT1 (606822) and POMT2 (607439) genes were identified in 6 (15%) and 3 (7%) families, respectively. Overall, mutations were identified in 22 of 41 families included in the study. Definitive pathogenic mutations were not identified in the FKRP (606596), FKTN (607440), or LARGE (603590) genes. </p><p>Godfrey et al. (2007) identified POMT1 mutations in 8 of 92 patients with evidence of a muscular dystrophy due to defective glycosylation of alpha-dystroglycan (DAG1; 128239). One patient had WWS, 1 had MEB (607423.0015), 3 had congenital muscular dystrophy, and 3 had limb-girdle muscular dystrophy. All had low IQ and about half had structural brain abnormalities. </p><p>Mercuri et al. (2009) identified POMT1 mutations in 17 (21%) of 81 Italian patients with a dystroglycanopathy. Thirteen patients had muscular dystrophy, 2 had MEB, and 2 had WWS. Six patients had a normal MRI, 1 of whom had a severe dilated cardiomyopathy. All but 1 had mental retardation and microcephaly. No clear-cut genotype-phenotype correlations were observed; however, the more severe phenotypes appeared to be associated with mutations predicted to result in severe disruption of the gene. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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<span class="mim-text-font">
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<p>Willer et al. (2004) found that during embryogenesis, the mouse Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. They noted that these sites of expression correlate with those in which the main tissue alterations are observed in patients with Walker-Warburg syndrome. Willer et al. (2004) inactivated a Pomt1 allele by gene targeting in mouse embryonic stem cells and produced chimeras transmitting the defect allele to offspring. Although heterozygous mice were viable and fertile, the total absence of homozygous Pomt1 -/- pups among the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal. Analysis of the mutant phenotype revealed that homozygous null mice suffered developmental arrest around embryonic day (E) 7.5 and died between E7.5 and E9.5. The Pomt1 -/- embryos presented defects in the formation of the Reichert membrane, the first basement membrane to form in the embryo. The Reichert membrane is a thick multilayered membrane between the parietal endoderm cells and the trophoblast cells of rodents; it is thought to function to allow free access of nutrients to the embryo while excluding maternal cells (Salamat et al., 1995). The failure of this membrane to form in the Pomt1 -/- embryos appeared to be the result of abnormal glycosylation and maturation of dystroglycan that may impair recruitment of laminin (see 150320), a structural component required for the formation of Reichert membrane in rodents. Willer et al. (2004) concluded that the targeted disruption of Pomt1 in mouse represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>20 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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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POMT1, GLY76ARG
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<br />
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SNP: rs28941782,
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ClinVar: RCV000003394, RCV001171882, RCV005055501
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family with Walker-Warburg syndrome (MDDGA1; 236670), previously reported by Cormand et al. (2001), Beltran-Valero de Bernabe et al. (2002) identified a homozygous transition, 226G-A, in exon 3 of the POMT1 gene, predicting a gly76-to-arg (G76R) substitution. The parents were first cousins of Turkish origin. After 3 spontaneous abortions, a male was born presenting with severe hydrocephalus with dilatation of the third and fourth ventricles and minimal cortical development, no visible gyri, bifid cerebellum, and hypoplasia of the vermis and of the cerebellar hemispheres. A cerebellar cyst was observed. The corpus callosum appeared to be present. Microphthalmia on the left and exophthalmia on the right were noted. The genitalia were hypoplastic. Serum creatine kinase levels were highly elevated at more than 2,000 U/l. The patient died at age 7 months. Another affected child, whose DNA was used for genetic analysis, died 15 minutes after birth. She presented with severe hydrocephaly, encephalocele, and bilateral cleft lip. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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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POMT1, GLN303TER
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<br />
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SNP: rs119462981,
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gnomAD: rs119462981,
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ClinVar: RCV000003395, RCV001813941, RCV003231073, RCV003764521
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 2 families of Turkish origin with Walker-Warburg syndrome (MDDGA1; 236670), previously reported by Cormand et al. (2001), Beltran-Valero de Bernabe et al. (2002) identified homozygosity for a 907C-T transition in exon 9 of the POMT1 gene, resulting in a gln303-to-ter (Q303X) substitution. Both families were consanguineous. In 1 family, 3 sibs had WWS: a girl who died at age 3 years and 2 fetuses. The deceased girl had cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, and retinal dysplasia. Serum creatine kinase was increased. One fetus had an encephalocele. In the second family, there was 1 affected girl who died at age 2 months. She presented with severe hydrocephalic ventricular dilatation, hypoplasia of vermis and cerebellum, cyst formation in the posterior fossa, and a Dandy-Walker-like malformation. Eye malformations included bilateral buphthalmos, bilateral glaucoma, and hypertelorism. Serum CK levels were significantly increased. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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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POMT1, 1-BP INS, 2110G
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<br />
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ClinVar: RCV000003396
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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 nonconsanguineous Italian family with Walker-Warburg syndrome (MDDGA1; 236670), Beltran-Valero de Bernabe et al. (2002) identified homozygosity for a frameshift mutation, 2110insG, in exon 20 of the POMT1 gene, which was predicted to cause a replacement of 44 highly conserved C-terminal amino acids by 26 irrelevant ones following val703. </p><p>Messina et al. (2008) and Mercuri et al. (2009) referred to this mutation as 2111insG, resulting in a frameshift (Ala704GlyfsTer27). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</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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POMT1, 3-BP DEL, 1260CCT
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<br />
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SNP: rs587777818,
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ClinVar: RCV000003397
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Japanese boy with Walker-Warburg syndrome (MDDGA1; 236670), Kim et al. (2004) identified a homozygous 3-bp deletion (1260delCCT) in the POMT1 gene, resulting in the deletion of a highly conserved leucine at codon 421. The mutation was not identified in 100 Japanese controls. Prenatal studies showed a meningoencephalocele. At birth, the boy showed hypotonia, hydrocephalus, mild microphthalmia, and corneal clouding. Serum creatine kinase levels were markedly elevated to 600 to 31,000 IU/L. He had markedly delayed milestones, with inability to control his head, roll over, or sit. Brain MRI showed agyric frontal and temporo-occipital lobes mixed with pachygyric parietal cortex, as well as hypoplasia of the brainstem and cerebellum. Muscle biopsy showed marked increase in fatty tissue with evidence of necrosis and regeneration, hypoglycosylation of alpha-dystroglycan (DAG1; 128239), and defective laminin binding. Kim et al. (2004) noted that the patient showed exceptionally long survival for WWS, up to 3.5 years, and thus could be considered to have an intermediate phenotype between WWS and muscle-eye-brain disease; however, the presence of a meningoencephalocele was more consistent with WWS. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, ALA200PRO
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<br />
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|
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SNP: rs119462982,
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|
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gnomAD: rs119462982,
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|
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ClinVar: RCV000003399, RCV000179928, RCV001264826, RCV001385876, RCV001813942, RCV003234890, RCV003472966
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 unrelated Turkish patients with limb-girdle muscular dystrophy and mental retardation (MDDGC1; 609308), some of whom were described by Dincer et al. (2003), Balci et al. (2005) identified a homozygous 598G-C transversion in exon 7 of the POMT1 gene, resulting in an ala200-to-pro (A200P) substitution in a highly conserved residue in loop 4 of a cytoplasmic domain of the protein. All patients were born of consanguineous parents. The mutation was not identified in 212 control chromosomes. Balci et al. (2005) noted that A200P was the first reported POMT1 mutation within the cytoplasmic domain and that the phenotype associated with this mutation is significantly milder than Walker-Warburg syndrome (MDDGA1; 236670), which is caused by other POMT1 mutations (see, e.g., 607423.0001). Most significantly, none of the patients with the A200P mutation had structural brain abnormalities on imaging that would signify a cortical migration defect. Haplotype analysis indicated that A200P is a common founder mutation. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, GLY65ARG
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs119462983,
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|
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|
|
gnomAD: rs119462983,
|
|
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|
|
ClinVar: RCV002286389, RCV002512705, RCV003460408
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian sibs with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 193G-A transition, resulting in a gly65-to-arg (G65R) substitution, and a 1746G-C transversion, resulting in a trp582-to-cys (W582C; 607423.0007) substitution. The G65R substitution occurs within the protein mannosyltransferase (PMT) domain but is not highly conserved, whereas the W582C substitution affects a highly conserved residue in the endoplasmic reticulum domain. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype observed in these patients, compared to those with Walker-Warburg syndrome (MDDGA1; 236670) was due to some residual POMT1 activity. </p><p>Mercuri et al. (2009) identified a homozygous G65R mutation in an Italian patient with POMT1-related muscular dystrophy, microcephaly, and mental retardation. Brain MRI was normal. The G65R mutation was found in compound heterozygosity with another POMT1 mutation in 4 additional patients with a similar phenotype, although some had cerebellar hypoplasia. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, TRP582CYS
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs119462984,
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|
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|
|
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|
|
ClinVar: RCV002286388, RCV002512704
|
|
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|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the trp582-to-cys (W582C) mutation in the POMT1 gene that was found in compound heterozygous state in patients with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0006. </p>
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|
</span>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, ARG514TER
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs119462985,
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|
|
|
|
|
gnomAD: rs119462985,
|
|
|
|
|
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ClinVar: RCV000760355, RCV001851614, RCV002286390, RCV005041976
|
|
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|
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 1540C-T transition, resulting in an arg514-to-ter (R514X) substitution in the 3-prime MIR region, and a 1770G-C transversion, resulting in gln590-to-his (Q590H; 607423.0009) substitution in a highly conserved residue. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype, compared to those with Walker-Warburg syndrome (MDDGA1; 236670), observed in this patient was due to some residual POMT1 activity. </p>
|
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</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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|
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</div>
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<div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, GLN590HIS
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs119462986,
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|
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gnomAD: rs119462986,
|
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|
|
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ClinVar: RCV000175324, RCV002286391, RCV003323349, RCV003764522
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|
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|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0008. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
|
|
POMT1, GLY65ARG
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<br />
|
|
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|
|
ClinVar: RCV002286389, RCV002512705, RCV003460408
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated children with a severe form of muscular dystrophy (MDDGB1; 613155), D'Amico et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene. Both children had a gly64-to-arg (G65R) substitution in a moderately conserved residue, as well as another pathogenic POMT1 mutation, R541X (607423.0011) and Q590H (607423.0012), respectively. </p>
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|
</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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POMT1, ARG541TER
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|
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<br />
|
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|
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SNP: rs119462985,
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|
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|
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gnomAD: rs119462985,
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|
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|
|
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ClinVar: RCV000760355, RCV001851614, RCV002286390, RCV005041976
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|
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|
|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the arg541-to-ter (R541X) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0010. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0012 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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POMT1, GLN590HIS
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<br />
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ClinVar: RCV000175324, RCV002286391, RCV003323349, RCV003764522
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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 gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0010. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0013 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</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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POMT1, ALA669THR
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<br />
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|
|
SNP: rs119462987,
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|
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gnomAD: rs119462987,
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ClinVar: RCV000414180, RCV000694423, RCV002286394, RCV003460409
|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with a severe form of muscular dystrophy (MDDGB1; 613155), D'Amico et al. (2006) identified compound heterozygosity for an ala669-to-thr (A669T) substitution in a transmembrane domain and a splice site mutation (607423.0014) in the POMT1 gene. Bello et al. (2012) reported that this patient developed cardiomyopathy with moderate left ventricular dysfunction at age 17 years. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
POMT1, IVS12DS, G-A, +1
|
|
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|
|
|
<br />
|
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|
|
SNP: rs1051679985,
|
|
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|
|
|
gnomAD: rs1051679985,
|
|
|
|
|
|
ClinVar: RCV001383583, RCV002286395, RCV003472967, RCV005055502
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the POMT1 gene that was found in compound heterozygous state in a patient with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0013. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
POMT1, 2-BP DEL, 2179TC
|
|
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|
|
<br />
|
|
|
|
SNP: rs587777819,
|
|
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|
|
|
|
|
ClinVar: RCV000003408, RCV000150016, RCV000587199, RCV005041977
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with muscle-eye-brain disease (MDDGA1; 236670), Godfrey et al. (2007) identified a homozygous 2-bp deletion in the POMT1 gene (2179delTC), predicted to result in a frameshift. Although clinical details were limited, the patient had prenatal onset, increased serum creatine kinase, contractures, congenital glaucoma, microcephaly, and low IQ. Brain MRI showed hydrocephalus, brainstem involvement, white matter abnormalities, cerebellar hypoplasia, and cerebellar cysts. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0016 MOVED TO 607423.0003</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, 3-BP DEL, 418ATG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777820,
|
|
|
|
|
|
|
|
ClinVar: RCV000003410
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with muscle-eye-brain disease (MDDGA1; 236670), Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 3-bp deletion (418delATG) and a 1-bp duplication (2167dupG; 607423.0018). The mutations were predicted to result in a deletion of met140 and a frameshift, respectively. Although clinical details were limited, the patient had microcephaly, mental retardation, myopia, and seizures, achieved sitting only, and had significantly increased serum creatine kinase with decreased alpha-dystroglycan staining on muscle biopsy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, 1-BP DUP, 2167G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398124245,
|
|
|
|
|
|
|
|
ClinVar: RCV000003411, RCV000081487, RCV000546035, RCV000778874, RCV001391256, RCV002496244, RCV002512706, RCV003225921, RCV003398430, RCV003447841
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp duplication in the POMT1 gene (2167dupG) that was found in compound heterozygous state in a patient with muscle-eye-brain disease (MDDGA1; 236670) by Mercuri et al. (2009), see 607423.0017. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, ASN144ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514501,
|
|
|
|
|
|
|
|
ClinVar: RCV000032629
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 20-year-old man with limb-girdle muscular dystrophy (MDDGC1; 609308), Bello et al. (2012) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 430A-G transition resulting in an asn144-to-asp (N144D) substitution at a conserved residue in a transmembrane helix, and a 1241C-T transition resulting in a thr414-to-met (T414M; 607423.0020) substitution at a conserved residue in an MIR domain. Neither mutation was found in 110 control chromosomes. Both mutations were predicted to be destabilizing or pathogenic. The patient had normal psychomotor development, mild cognitive impairment, and proximal muscle weakness, and developed cardiomyopathy at age 12 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
POMT1, THR414MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515400,
|
|
|
|
|
|
gnomAD: rs397515400,
|
|
|
|
|
|
ClinVar: RCV000032630
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the thr414-to-met (T414M) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy (MDDGC1; 609308) by Bello et al. (2012), see 607423.0019. </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">
|
|
Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H.
|
|
<strong>An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.</strong>
|
|
Neuromusc. Disord. 15: 271-275, 2005.
|
|
|
|
|
|
[PubMed: 15792865]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.nmd.2005.01.013]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E.
|
|
<strong>Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.</strong>
|
|
Europ. J. Hum. Genet. 20: 1234-1239, 2012.
|
|
|
|
|
|
[PubMed: 22549409]
|
|
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|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2012.71]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G.
|
|
<strong>Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.</strong>
|
|
Am. J. Hum. Genet. 71: 1033-1043, 2002.
|
|
|
|
|
|
[PubMed: 12369018]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/342975]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bouchet, C., Gonzales, M., Vuillaumier-Barrot, S., Devisme, L., Lebizec, C., Alanio, E., Bazin, A., Bessieres-Grattagliano, B., Bigi, N., Blanchet, P., Bonneau, D., Bonnieres, M., and 22 others.
|
|
<strong>Molecular heterogeneity in fetal forms of type II lissencephaly.</strong>
|
|
Hum. Mutat. 28: 1020-1027, 2007.
|
|
|
|
|
|
[PubMed: 17559086]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20561]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., van Bokhoven, H., Brunner, H. G., Voit, T., Topaloglu, H., Dobyns, W. B., Lehesjoki, A.-E.
|
|
<strong>Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.</strong>
|
|
Neurology 56: 1059-1069, 2001.
|
|
|
|
|
|
[PubMed: 11320179]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.56.8.1059]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
D'Amico, A., Tessa, A., Bruno, C., Petrini, S., Biancheri, R., Pane, M., Pedemonte, M., Ricci, E., Falace, A., Rossi, A., Mercuri, E., Santorelli, F. M., Bertini, E.
|
|
<strong>Expanding the clinical spectrum of POMT1 phenotype.</strong>
|
|
Neurology 66: 1564-1567, 2006.
|
|
|
|
|
|
[PubMed: 16717220]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000216145.66476.36]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H.
|
|
<strong>A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.</strong>
|
|
Neuromusc. Disord. 13: 771-778, 2003.
|
|
|
|
|
|
[PubMed: 14678799]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0960-8966(03)00161-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., and 10 others.
|
|
<strong>Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.</strong>
|
|
Brain 130: 2725-2735, 2007.
|
|
|
|
|
|
[PubMed: 17878207]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/awm212]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jurado, L. A. P., Coloma, A., Cruces, J.
|
|
<strong>Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyltransferase, and assignment to human chromosome 9q34.1.</strong>
|
|
Genomics 58: 171-180, 1999.
|
|
|
|
|
|
[PubMed: 10366449]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1999.5819]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, D.-S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., Nishino, I.
|
|
<strong>POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.</strong>
|
|
Neurology 62: 1009-1011, 2004.
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Mercuri, E., Messina, S., Bruno, C., Mora, M., Pegoraro, E., Comi, G. P., D'Amico, A., Aiello, C., Biancheri, R., Berardinelli, A., Boffi, P., Cassandrini, D., and 23 others.
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<strong>Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.</strong>
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Neurology 72: 1802-1809, 2009. Note: Erratum: Neurology 93: 371 only, 2019.
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Messina, S., Mora, M., Pegoraro, E., Pina, A., Mongini, T., D'Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., and 17 others.
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<strong>POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.</strong>
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Salamat, M., Miosge, N., Herken, R.
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<strong>Development of Reichert's membrane in the early mouse embryo.</strong>
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Anat. Embryol. 192: 275-281, 1995.
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van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., van Bokhoven, H.
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<strong>The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.</strong>
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Hum. Mutat. 27: 453-459, 2006.
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Villanova, M., Mercuri, E., Bertini, E., Sabatelli, P., Morandi, L., Mora, M., Sewry, C., Brockington, M., Brown, S. C., Ferreiro, A., Maraldi, N. M., Toda, T., Guicheney, P., Merlini, L., Muntoni, F.
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<strong>Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.</strong>
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Neuromusc. Disord. 10: 541-547, 2000.
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Willer, T., Prados, B., Falcon-Perez, J. M., Renner-Muller, I., Przemeck, G. K. H., Lommel, M., Coloma, A., Valero, M. C., Hrabe de Angelis, M., Tanner, W., Wolf, E., Strahl, S., Cruces, J.
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<strong>Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.</strong>
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Proc. Nat. Acad. Sci. 101: 14126-14131, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 16081 only, 2004.
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[PubMed: 15383666]
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[Full Text: https://doi.org/10.1073/pnas.0405899101]
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Cassandra L. Kniffin - updated : 2/4/2013<br>Cassandra L. Kniffin - updated : 11/8/2010<br>Cassandra L. Kniffin - updated : 11/1/2007<br>Cassandra L. Kniffin - updated : 9/17/2007<br>Cassandra L. Kniffin - updated : 5/18/2006<br>Cassandra L. Kniffin - updated : 4/13/2005<br>Victor A. McKusick - updated : 12/2/2004<br>Cassandra L. Kniffin - updated : 8/27/2004<br>Victor A. McKusick - updated : 12/23/2002
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