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<title>
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Entry
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- *600536 - INTEGRIN, ALPHA-7; ITGA7
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</ul>
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</form>
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<p />
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600536</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600536">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000135424;t=ENST00000257879" 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=3679" 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=600536" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000135424;t=ENST00000257879" 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_001144996,NM_001144997,NM_001367993,NM_001367994,NM_001374465,NM_001410977,NM_001414029,NM_001414030,NM_001414031,NM_001414032,NM_001414033,NM_001414034,NM_001414035,NM_002206,XM_005268840,XM_005268841,XM_005268844,XM_005268848,XM_017019265,XM_047428792,XM_047428793,XM_047428794,XM_047428795,XM_047428796,XM_047428797,XM_047428798,XM_047428799" 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_002206" 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=600536" 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=02761&isoform_id=02761_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/ITGA7" 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/437782,2654173,2897116,3158408,3930583,4699891,4699892,29792145,37182882,119617225,119617226,119617227,119617228,119617229,193785653,194389228,222418611,222418613,222418615,308153592,530400182,530400184,530400190,530400198,929654749,1034579393,1547242095,1547242118,1753014416,2217288884,2217288887,2217288890,2217288892,2217288894,2217288896,2217288899,2217288901,2287780867,2328705329,2328705337,2328705340,2328705363,2328705430,2328705436,2328705444,2462531753,2462531755,2462531757,2462531759,2462531761,2462531763,2462531765,2462531767,2462531769,2462531771,2462531773" 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/Q13683" 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=3679" 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=ENSG00000135424;t=ENST00000257879" 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=ITGA7" 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=ITGA7" 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+3679" 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/ITGA7" 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:3679" 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/3679" 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=chr12&hgg_gene=ENST00000257879.11&hgg_start=55684568&hgg_end=55716400&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600536[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=600536[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/ITGA7/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/ENSG00000135424" 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=ITGA7" 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=ITGA7" 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=ITGA7" 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/ITGA7" 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=ITGA7&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/PA29943" 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:6143" 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/FBgn0004456.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:102700" 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/ITGA7#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:102700" 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/3679/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=3679" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002081;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070501-10" 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:3679" 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=ITGA7&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> 771267003<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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600536
|
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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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INTEGRIN, ALPHA-7; ITGA7
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ITGA7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ITGA7</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/12/478?start=-3&limit=10&highlight=478">12q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:55684568-55716400&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'})">12:55,684,568-55,716,400</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<p>Integrins are heterodimeric membrane glycoproteins that mediate a wide spectrum of cell-cell and cell-matrix interactions. They have preeminent roles in cell migration and morphologic development, differentiation, and metastasis. The diversity and specificity of functions mediated by integrins rest in the structural diversity of the different integrin alpha and beta chains and in their ligand-binding and signal transduction capacities. Alternate splicing increases the structural diversity in the cytoplasmic domains of several integrin alpha and beta chains. The alpha-7 (ITGA7)/beta-1 (ITGB1; <a href="/entry/135630">135630</a>) integrin is a specific cellular receptor for the basement membrane protein laminin-1 (see <a href="/entry/150320">150320</a>), as well as for laminin-2 (see <a href="/entry/156225">156225</a>) and -4. The alpha-7 subunit is expressed mainly in skeletal and cardiac muscle and may be involved in differentiation and migration processes during myogenesis (summary by <a href="#5" class="mim-tip-reference" title="Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J. <strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong> Genomics 26: 563-570, 1995."None>Wang et al. (1995)</a> and <a href="#3" class="mim-tip-reference" title="Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K. <strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong> Nature Genet. 17: 318-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354797</a>] [<a href="https://doi.org/10.1038/ng1197-318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354797">Mayer et al. (1997)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354797" 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="#3" class="mim-tip-reference" title="Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K. <strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong> Nature Genet. 17: 318-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354797</a>] [<a href="https://doi.org/10.1038/ng1197-318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354797">Mayer et al. (1997)</a> noted that 3 cytoplasmic and 2 extracellular splice variants of integrin alpha-7 are developmentally regulated and expressed in different sites in muscle. In adult muscle, the alpha-7A and alpha-7B subunits are concentrated in myotendinous junctions, but they can also be detected in neuromuscular junctions and along the sarcolemmal membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354797" 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>From examining the rat and human genomes by Southern blot analysis and in situ hybridization, <a href="#5" class="mim-tip-reference" title="Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J. <strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong> Genomics 26: 563-570, 1995."None>Wang et al. (1995)</a> determined that both genomes contain a single alpha-7 gene. Using FISH, they mapped the human ITGA7 gene to chromosome 12q13.</p>
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<p>In 3 unrelated patients with congenital muscular dystrophy due to integrin alpha-7 deficiency (<a href="/entry/613204">613204</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a> identified compound heterozygosity for mutations in the ITGA7 gene (<a href="#0001">600536.0001</a>-<a href="#0003">600536.0003</a>). All had normal laminin alpha-2 chain expression (LAMA2; <a href="/entry/156225">156225</a>) in skeletal muscle. The findings in the 3 patients corresponded well with the findings in Itga7 knockout mice reported by <a href="#3" class="mim-tip-reference" title="Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K. <strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong> Nature Genet. 17: 318-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354797</a>] [<a href="https://doi.org/10.1038/ng1197-318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354797">Mayer et al. (1997)</a> (see ANIMAL MODEL). <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a> noted that deficiency of LAMA2 causes congenital muscular dystrophy (MDC1A; <a href="/entry/607855">607855</a>), and a secondary deficiency of integrin alpha-7 can be observed in some cases. Another patient with congenital myopathy and marked deficiency of ITGA7 mRNA showed hypotonia and torticollis from birth. No mutation was identified in the ITGA7 cDNA. The patients were identified from a larger cohort of 117 patients with unclassified congenital myopathy and congenital muscular dystrophy by immunocytochemistry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9590299+9354797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J. <strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong> Genomics 26: 563-570, 1995."None>Wang et al. (1995)</a> noted that 1 structural difference in the integrin alpha chains appears to divide them into 2 subgroups. The I-integrin alpha chains have an insertion of about 180 amino acids in the extracellular region, whereas the non-I-integrins do not. Phylogenetic analysis of the integrin alpha-chain sequences by <a href="#5" class="mim-tip-reference" title="Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J. <strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong> Genomics 26: 563-570, 1995."None>Wang et al. (1995)</a> suggested that the early integrin genes evolved in 2 pathways to form the I-integrins and the non-I-integrins. The I-integrin alpha chains apparently arose as a result of an early insertion into the non-I-gene. The I-chain subfamily further evolved by duplications within the same chromosome. The non-I-integrin alpha-chain genes are located in clusters on chromosomes 2, 12, and 17, which coincides closely with the localization of the human homeobox gene clusters. Non-I-integrin alpha-chain genes appear to have evolved in parallel and in proximity to the HOX clusters. Thus, the HOX genes that underlie the design of body structure and the integrin genes that underlie informed cell-cell and cell-matrix interactions appear to have evolved in parallel and coordinate fashions.</p>
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<p>To study the involvement of alpha-7 integrin during myogenesis and its role in muscle integrity and function, <a href="#3" class="mim-tip-reference" title="Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K. <strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong> Nature Genet. 17: 318-323, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354797</a>] [<a href="https://doi.org/10.1038/ng1197-318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354797">Mayer et al. (1997)</a> generated a null allele of the Itga7 gene in the germline of mice by homologous recombination in embryonic stem (ES) cells. Mice homozygous for the mutation were viable and fertile, indicating that the gene is not essential for myogenesis. However, histologic analysis of skeletal muscle showed typical signs of progressive muscular dystrophy starting soon after birth, but with a distinct variability in different muscle types. The histopathologic changes indicated an impairment of function of the myotendinous junctions. Thus, ITGA7 represents an indispensable linkage between the muscle fiber and extracellular matrix that is independent of the dystrophin-dystroglycan complex-mediated interaction of the cytoskeleton with the muscle basement membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354797" 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="Nawrotzki, R., Willem, M., Miosge, N., Brinkmeier, H., Mayer, U. <strong>Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.</strong> Hum. Molec. Genet. 12: 483-495, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588796</a>] [<a href="https://doi.org/10.1093/hmg/ddg047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588796">Nawrotzki et al. (2003)</a> reported that beta-1D integrin coimmunoprecipitated and colocalized with the alpha-5 integrin subunit (ITGA5; <a href="/entry/135620">135620</a>) at myotendinous junctions in alpha-7-deficient mice, but did not associate with alpha-3 (ITGA3; <a href="/entry/605025">605025</a>), alpha-6 (ITGA6; <a href="/entry/147556">147556</a>), or alpha-V (ITGAV; <a href="/entry/193210">193210</a>) integrins. Immunogold labeling showed that the basement membranes of integrin alpha-7-deficient muscles recruited abnormally high levels of fibronectin (FN1; <a href="/entry/135600">135600</a>), the ligand of alpha-5-beta-1D. Alpha-5-beta-1D was downregulated at the normal postnatal junction and was displaced by alpha-7-beta-1D. The authors suggested that the alpha-7 subunit may be responsible for downregulation of alpha-5-beta-1D and also for removal of fibronectin from the maturing myotendinous junction, thus providing an alpha-7-beta-1D-based link to laminin. The authors proposed that persistence of alpha-5-beta-1D in alpha-7-deficient mice may not be compatible with normal muscle function and may lead to muscle wasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588796" 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>Both dystrophin (DMD; <a href="/entry/300377">300377</a>) and alpha-7/beta-1 integrin have critical roles in the maintenance of muscle integrity by providing mechanical links between muscle fibers and the basement membrane. <a href="#1" class="mim-tip-reference" title="Guo, C., Willem, M., Werner, A., Raivich, G., Emerson, M., Neyses, L., Mayer, U. <strong>Absence of alpha-7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy.</strong> Hum. Molec. Genet. 15: 989-998, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476707</a>] [<a href="https://doi.org/10.1093/hmg/ddl018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16476707">Guo et al. (2006)</a> created Dmd/Itga7 double-knockout mice (DKO), which appeared normal at birth, but died within the first month of life with severe muscular dystrophy, endomysial fibrosis, and ectopic calcification. Progressive muscle wasting in the DKO mice was likely due to inadequate muscle regeneration, and the premature death appeared to be due to cardiac and/or respiratory failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>3 Selected Examples</a>):</strong>
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<a href="/allelicVariants/600536" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600536[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a id="0001" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0001 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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ITGA7, IVSAS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565627745 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565627745;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=rs1565627745" 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=rs1565627745" 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=RCV000009616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009616</a>
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<p>In a 4-year-old Japanese boy with congenital muscular dystrophy (<a href="/entry/613204">613204</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a> observed compound heterozygosity for 2 splicing mutations in the ITGA7 gene: one was an A-to-G transition at -2 in a splice acceptor site (nucleotide 1506) that caused a 21-bp insertion in the conserved cysteine-rich region, and the other was a T-to-C transition at +2 in a splice donor site (nucleotide 2712) (<a href="#0002">600536.0002</a>) that resulted in a 98-bp frameshift deletion and a premature termination codon 12 bp downstream. The latter mutation was found in the unaffected father, whereas the former was not detected in either parent, suggesting a new mutation. The child's psychomotor milestones were delayed; he acquired the ability to roll over at 9 months, and walked at 2.5 years. He could not jump or run. Mental retardation was also observed, and verbal abilities were limited to only a few words. Serum creatine kinase (CK) activity was mildly elevated. Brain MRI and EEG were normal. It was unclear whether mental retardation was caused by alpha-7 deficiency, but <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a> observed that alpha-7 is also expressed in the developing nervous system. Muscle biopsy at 15 months showed changes consistent with congenital myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0002 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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ITGA7, IVSDS, T-C, +2
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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> rs774985604 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs774985604;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/rs774985604?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=rs774985604" 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=rs774985604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009617" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009617" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009617</a>
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<p>For discussion of the splice site mutation at nucleotide 2712 in the ITGA7 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy due to alpha-7 deficiency (<a href="/entry/613204">613204</a>) by <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a>, see <a href="#0001">600536.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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ITGA7, 1-BP DEL, 1204G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1565629479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1565629479;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=rs1565629479" 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=rs1565629479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009618" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009618" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009618</a>
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<p>In an 11-year-old Japanese girl with nonconsanguineous parents and signs of congenital myopathy (<a href="/entry/613204">613204</a>), <a href="#2" class="mim-tip-reference" title="Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K. <strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong> Nature Genet. 19: 94-97, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>] [<a href="https://doi.org/10.1038/ng0598-94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9590299">Hayashi et al. (1998)</a> found compound heterozygosity for 2 mutations in the ITGA7 gene: IVS+2T-C (<a href="#0002">600536.0002</a>) and a 1-bp frameshift deletion (1204delG) that created a premature termination codon at amino acid 505. At 2 months of age, the girl was diagnosed with congenital dislocation of the hip and torticollis, which required surgical intervention. She acquired independent ambulation at 2 years, and Gowers sign and waddling gait were observed. She had never been able to climb stairs without support and could not run. There was no cognitive impairment. Serum CK was mildly elevated. Muscle biopsy showed changes consistent with congenital myopathy, with substantial fatty replacement and fiber size variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Guo2006" class="mim-anchor"></a>
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Guo, C., Willem, M., Werner, A., Raivich, G., Emerson, M., Neyses, L., Mayer, U.
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<strong>Absence of alpha-7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy.</strong>
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Hum. Molec. Genet. 15: 989-998, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddl018" target="_blank">Full Text</a>]
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Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K.
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<strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong>
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Nature Genet. 19: 94-97, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9590299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9590299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9590299" 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/ng0598-94" target="_blank">Full Text</a>]
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<a id="Mayer1997" class="mim-anchor"></a>
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Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K.
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<strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong>
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Nature Genet. 17: 318-323, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354797" 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/ng1197-318" target="_blank">Full Text</a>]
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<a id="Nawrotzki2003" class="mim-anchor"></a>
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Nawrotzki, R., Willem, M., Miosge, N., Brinkmeier, H., Mayer, U.
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<strong>Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.</strong>
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Hum. Molec. Genet. 12: 483-495, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg047" target="_blank">Full Text</a>]
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<a id="Wang1995" class="mim-anchor"></a>
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Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J.
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<strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong>
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Genomics 26: 563-570, 1995.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/4/2010
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/11/2009<br>George E. Tiller - updated : 1/28/2005<br>Victor A. McKusick - updated : 4/28/1998<br>Victor A. McKusick - updated : 10/28/1997
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/17/1995
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/21/2015
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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mcolton : 5/20/2015<br>carol : 1/5/2010<br>ckniffin : 1/4/2010<br>mgross : 11/16/2009<br>terry : 11/11/2009<br>wwang : 7/23/2008<br>alopez : 1/28/2005<br>ckniffin : 6/10/2003<br>alopez : 4/29/1998<br>terry : 4/28/1998<br>jenny : 10/28/1997<br>terry : 10/28/1997<br>mark : 5/17/1995
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600536
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<h3>
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<span class="mim-font">
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INTEGRIN, ALPHA-7; ITGA7
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</span>
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</h3>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ITGA7</em></strong>
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 771267003;
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</span>
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<p>
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<strong>
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<em>
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Cytogenetic location: 12q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:55,684,568-55,716,400 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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12q13.2
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</td>
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<td>
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<span class="mim-font">
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Muscular dystrophy, congenital, due to ITGA7 deficiency
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</td>
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<td>
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<span class="mim-font">
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613204
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Integrins are heterodimeric membrane glycoproteins that mediate a wide spectrum of cell-cell and cell-matrix interactions. They have preeminent roles in cell migration and morphologic development, differentiation, and metastasis. The diversity and specificity of functions mediated by integrins rest in the structural diversity of the different integrin alpha and beta chains and in their ligand-binding and signal transduction capacities. Alternate splicing increases the structural diversity in the cytoplasmic domains of several integrin alpha and beta chains. The alpha-7 (ITGA7)/beta-1 (ITGB1; 135630) integrin is a specific cellular receptor for the basement membrane protein laminin-1 (see 150320), as well as for laminin-2 (see 156225) and -4. The alpha-7 subunit is expressed mainly in skeletal and cardiac muscle and may be involved in differentiation and migration processes during myogenesis (summary by Wang et al. (1995) and Mayer et al. (1997)). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mayer et al. (1997) noted that 3 cytoplasmic and 2 extracellular splice variants of integrin alpha-7 are developmentally regulated and expressed in different sites in muscle. In adult muscle, the alpha-7A and alpha-7B subunits are concentrated in myotendinous junctions, but they can also be detected in neuromuscular junctions and along the sarcolemmal membrane. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>From examining the rat and human genomes by Southern blot analysis and in situ hybridization, Wang et al. (1995) determined that both genomes contain a single alpha-7 gene. Using FISH, they mapped the human ITGA7 gene to chromosome 12q13.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with congenital muscular dystrophy due to integrin alpha-7 deficiency (613204), Hayashi et al. (1998) identified compound heterozygosity for mutations in the ITGA7 gene (600536.0001-600536.0003). All had normal laminin alpha-2 chain expression (LAMA2; 156225) in skeletal muscle. The findings in the 3 patients corresponded well with the findings in Itga7 knockout mice reported by Mayer et al. (1997) (see ANIMAL MODEL). Hayashi et al. (1998) noted that deficiency of LAMA2 causes congenital muscular dystrophy (MDC1A; 607855), and a secondary deficiency of integrin alpha-7 can be observed in some cases. Another patient with congenital myopathy and marked deficiency of ITGA7 mRNA showed hypotonia and torticollis from birth. No mutation was identified in the ITGA7 cDNA. The patients were identified from a larger cohort of 117 patients with unclassified congenital myopathy and congenital muscular dystrophy by immunocytochemistry. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (1995) noted that 1 structural difference in the integrin alpha chains appears to divide them into 2 subgroups. The I-integrin alpha chains have an insertion of about 180 amino acids in the extracellular region, whereas the non-I-integrins do not. Phylogenetic analysis of the integrin alpha-chain sequences by Wang et al. (1995) suggested that the early integrin genes evolved in 2 pathways to form the I-integrins and the non-I-integrins. The I-integrin alpha chains apparently arose as a result of an early insertion into the non-I-gene. The I-chain subfamily further evolved by duplications within the same chromosome. The non-I-integrin alpha-chain genes are located in clusters on chromosomes 2, 12, and 17, which coincides closely with the localization of the human homeobox gene clusters. Non-I-integrin alpha-chain genes appear to have evolved in parallel and in proximity to the HOX clusters. Thus, the HOX genes that underlie the design of body structure and the integrin genes that underlie informed cell-cell and cell-matrix interactions appear to have evolved in parallel and coordinate fashions.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To study the involvement of alpha-7 integrin during myogenesis and its role in muscle integrity and function, Mayer et al. (1997) generated a null allele of the Itga7 gene in the germline of mice by homologous recombination in embryonic stem (ES) cells. Mice homozygous for the mutation were viable and fertile, indicating that the gene is not essential for myogenesis. However, histologic analysis of skeletal muscle showed typical signs of progressive muscular dystrophy starting soon after birth, but with a distinct variability in different muscle types. The histopathologic changes indicated an impairment of function of the myotendinous junctions. Thus, ITGA7 represents an indispensable linkage between the muscle fiber and extracellular matrix that is independent of the dystrophin-dystroglycan complex-mediated interaction of the cytoskeleton with the muscle basement membrane. </p><p>Nawrotzki et al. (2003) reported that beta-1D integrin coimmunoprecipitated and colocalized with the alpha-5 integrin subunit (ITGA5; 135620) at myotendinous junctions in alpha-7-deficient mice, but did not associate with alpha-3 (ITGA3; 605025), alpha-6 (ITGA6; 147556), or alpha-V (ITGAV; 193210) integrins. Immunogold labeling showed that the basement membranes of integrin alpha-7-deficient muscles recruited abnormally high levels of fibronectin (FN1; 135600), the ligand of alpha-5-beta-1D. Alpha-5-beta-1D was downregulated at the normal postnatal junction and was displaced by alpha-7-beta-1D. The authors suggested that the alpha-7 subunit may be responsible for downregulation of alpha-5-beta-1D and also for removal of fibronectin from the maturing myotendinous junction, thus providing an alpha-7-beta-1D-based link to laminin. The authors proposed that persistence of alpha-5-beta-1D in alpha-7-deficient mice may not be compatible with normal muscle function and may lead to muscle wasting. </p><p>Both dystrophin (DMD; 300377) and alpha-7/beta-1 integrin have critical roles in the maintenance of muscle integrity by providing mechanical links between muscle fibers and the basement membrane. Guo et al. (2006) created Dmd/Itga7 double-knockout mice (DKO), which appeared normal at birth, but died within the first month of life with severe muscular dystrophy, endomysial fibrosis, and ectopic calcification. Progressive muscle wasting in the DKO mice was likely due to inadequate muscle regeneration, and the premature death appeared to be due to cardiac and/or respiratory failure. </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>3 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, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ITGA7, IVSAS, A-G, -2
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<br />
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SNP: rs1565627745,
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ClinVar: RCV000009616
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old Japanese boy with congenital muscular dystrophy (613204), Hayashi et al. (1998) observed compound heterozygosity for 2 splicing mutations in the ITGA7 gene: one was an A-to-G transition at -2 in a splice acceptor site (nucleotide 1506) that caused a 21-bp insertion in the conserved cysteine-rich region, and the other was a T-to-C transition at +2 in a splice donor site (nucleotide 2712) (600536.0002) that resulted in a 98-bp frameshift deletion and a premature termination codon 12 bp downstream. The latter mutation was found in the unaffected father, whereas the former was not detected in either parent, suggesting a new mutation. The child's psychomotor milestones were delayed; he acquired the ability to roll over at 9 months, and walked at 2.5 years. He could not jump or run. Mental retardation was also observed, and verbal abilities were limited to only a few words. Serum creatine kinase (CK) activity was mildly elevated. Brain MRI and EEG were normal. It was unclear whether mental retardation was caused by alpha-7 deficiency, but Hayashi et al. (1998) observed that alpha-7 is also expressed in the developing nervous system. Muscle biopsy at 15 months showed changes consistent with congenital myopathy. </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, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ITGA7, IVSDS, T-C, +2
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<br />
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SNP: rs774985604,
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gnomAD: rs774985604,
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ClinVar: RCV000009617
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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 splice site mutation at nucleotide 2712 in the ITGA7 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy due to alpha-7 deficiency (613204) by Hayashi et al. (1998), see 600536.0001. </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, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ITGA7, 1-BP DEL, 1204G
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<br />
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SNP: rs1565629479,
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ClinVar: RCV000009618
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 11-year-old Japanese girl with nonconsanguineous parents and signs of congenital myopathy (613204), Hayashi et al. (1998) found compound heterozygosity for 2 mutations in the ITGA7 gene: IVS+2T-C (600536.0002) and a 1-bp frameshift deletion (1204delG) that created a premature termination codon at amino acid 505. At 2 months of age, the girl was diagnosed with congenital dislocation of the hip and torticollis, which required surgical intervention. She acquired independent ambulation at 2 years, and Gowers sign and waddling gait were observed. She had never been able to climb stairs without support and could not run. There was no cognitive impairment. Serum CK was mildly elevated. Muscle biopsy showed changes consistent with congenital myopathy, with substantial fatty replacement and fiber size variation. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Guo, C., Willem, M., Werner, A., Raivich, G., Emerson, M., Neyses, L., Mayer, U.
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<strong>Absence of alpha-7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy.</strong>
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Hum. Molec. Genet. 15: 989-998, 2006.
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[PubMed: 16476707]
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[Full Text: https://doi.org/10.1093/hmg/ddl018]
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Hayashi, Y. K., Chou, F.-L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B. L., Kramer, R. H., Kaufman, S. J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J., Hoffman, E. P., Arahata, K.
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<strong>Mutations in the integrin alpha-7 gene cause congenital myopathy.</strong>
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Nature Genet. 19: 94-97, 1998.
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[PubMed: 9590299]
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[Full Text: https://doi.org/10.1038/ng0598-94]
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</li>
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<li>
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Mayer, U., Saher, G., Fassler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Poschl, E., von der Mark, K.
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<strong>Absence of integrin alpha-7 causes a novel form of muscular dystrophy.</strong>
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Nature Genet. 17: 318-323, 1997.
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[PubMed: 9354797]
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[Full Text: https://doi.org/10.1038/ng1197-318]
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</li>
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<li>
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<p class="mim-text-font">
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Nawrotzki, R., Willem, M., Miosge, N., Brinkmeier, H., Mayer, U.
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<strong>Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.</strong>
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Hum. Molec. Genet. 12: 483-495, 2003.
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[PubMed: 12588796]
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[Full Text: https://doi.org/10.1093/hmg/ddg047]
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Wang, W., Wu, W., Desai, T., Ward, D. C., Kaufman, S. J.
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<strong>Localization of the alpha-7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families.</strong>
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Genomics 26: 563-570, 1995.
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Cassandra L. Kniffin - updated : 1/4/2010<br>Patricia A. Hartz - updated : 11/11/2009<br>George E. Tiller - updated : 1/28/2005<br>Victor A. McKusick - updated : 4/28/1998<br>Victor A. McKusick - updated : 10/28/1997
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Victor A. McKusick : 5/17/1995
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