4846 lines
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Entry
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- *300394 - TAFAZZIN, PHOSPHOLIPID-LYSOPHOSPHOLIPID TRANSACYLASE; TAFAZZIN
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300394</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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/300394">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div 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=ENSG00000102125;t=ENST00000601016" 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=6901" 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=300394" 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=ENSG00000102125;t=ENST00000601016" 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_000116,NM_001303465,NM_001410698,NM_181311,NM_181312,NM_181313,NR_024048,XM_006724836,XM_006724837,XM_006724839,XM_011531189,XM_011531191,XM_017029761,XM_017029763,XM_017029764,XM_047442407,XM_047442408" 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_000116" 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=300394" 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=02316&isoform_id=02316_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/TAFAZZIN" 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/1263110,1263132,4507371,29568133,29568135,29568137,29568139,29568420,29568422,29568424,29568426,31317259,31317261,31317263,82400044,83627908,83627914,83627920,83627926,83627932,83627938,83627943,83627949,83627955,83627961,83627967,83627973,83627979,83627985,83627991,83627997,83628003,83628009,83628015,83628021,83628027,83628033,83628039,83628045,83628051,83628057,83628063,83628069,83628075,83628081,83628087,83628093,83628099,83628105,83628111,83628117,83628123,83628129,83628135,83628141,83628147,83628153,83628159,83628165,83628171,83628177,83628183,83628189,83628195,83628201,83628207,114319053,119593123,119593124,119593125,119593126,119593127,119593128,119593129,119593130,119593131,119593132,119593133,119593134,119593135,119593136,158257128,578838899,578838901,578838905,744066798,768040150,768040159,957950245,957950248,957950251,957950254,957950257,957950260,1034675037,1034675042,1034675045,2203400028,2217393950,2217393955,2286439426,2462630663,2462630665,2462630667,2462630669,2462630671,2462630673,2462630675,2462630677,2462630679,2462630681" 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/Q16635" 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=6901" 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=ENSG00000102125;t=ENST00000601016" 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=TAFAZZIN" 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=TAFAZZIN" 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+6901" 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/TAFAZZIN" 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:6901" 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/6901" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000601016.6&hgg_start=154411539&hgg_end=154421726&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11577" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/tafazzin" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300394[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 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=300394[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/TAFAZZIN/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/ENSG00000102125" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=TAFAZZIN" 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=TAFAZZIN" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/TAZbase/" title="TAZbase: Mutation registry for Barth syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">TAZbase: Mutation registry…</a></div><div style="margin-left: 0.5em;"><a href="http://www.barthsyndrome.org/" title="Human Tafazzin (TAZ) Gene Mutation & Variation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Human Tafazzin (TAZ) Gene …</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TAFAZZIN&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/PA166352216" 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:11577" 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/FBgn0026619.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:109626" 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/TAFAZZIN#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:109626" 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/6901/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=6901" 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=WBGene00006491;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-030131-684" 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:6901" 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=TAFAZZIN&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> 297231002<br />
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<strong>ICD10CM:</strong> E78.71<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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300394
|
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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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TAFAZZIN, PHOSPHOLIPID-LYSOPHOSPHOLIPID TRANSACYLASE; TAFAZZIN
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</span>
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</h3>
|
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</div>
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|
<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TAZ<br />
|
|
G4.5
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<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=TAFAZZIN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TAFAZZIN</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/861?start=-3&limit=10&highlight=861">Xq28</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:154411539-154421726&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:154,411,539-154,421,726</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/861?start=-3&limit=10&highlight=861">
|
|
Xq28
|
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</a>
|
|
</span>
|
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</td>
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<a href="/entry/302060"> 302060 </a>
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PheneGene Graphics <span class="caret"></span>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Cardiolipin is a complex glycerophospholipid with 4 acyl groups that localizes to the mitochondrial inner membrane and has a role in mitochondrial structure and function. TAZ is a mitochondrial transacylase that catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties (<a href="#1" class="mim-tip-reference" title="Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z. <strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong> J. Biol. Chem. 286: 899-908, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21068380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21068380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21068380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.171439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21068380">Acehan et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21068380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> identified a gene that is located in the gene-rich region Xq28 where Barth syndrome (<a href="/entry/302060">302060</a>) maps. The gene, which they termed G4.5, was expressed at high levels in cardiac and skeletal muscle. Different mRNAs were produced by alternative splicing of the primary G4.5 transcript, encoding proteins that differed at their N terminus and in the central region. These proteins, which <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> termed tafazzins, have no known similarities to other proteins. The longest encoded protein contains 292 amino acids. Two regions of the proteins may be functionally significant. The highly hydrophobic stretch of 30 residues at the N terminus may serve as a membrane anchor. The shortest forms of tafazzins (lacking the first 2 exons) do not have any hydrophobic sequence at the N terminus and may be soluble cytoplasmic proteins. The second variable region is the central portion between amino acids 124 and 195. Removal of exons 5, 6, and 7 would progressively shorten a hydrophilic domain of the protein, which may serve as an exposed loop interacting with other proteins. Accordingly, the 2 most abundant forms differ in the sequence encoded in exon 5, which is also the longest and most hydrophilic. RT-PCR revealed tissue-specific expression of several TAZ variants in leukocytes, fibroblasts, heart, and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> determined that the TAZ gene contains 11 exons and that its 5-prime end maps to a CpG island. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By positional cloning, <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> identified the TAZ gene within the critical Barth syndrome region on Xq28. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Claypool, S. M., McCaffery, J. M., Koehler, C. M. <strong>Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.</strong> J. Cell Biol. 174: 379-390, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16880272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16880272</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16880272[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200605043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16880272">Claypool et al. (2006)</a> showed that yeast Taz localized to both the inner and outer mitochondrial membranes via an 18-amino acid integral interfacial membrane anchor that integrated into, but not through, the lipid bilayers. Several residues within this domain are either conserved or identical in mouse and human TAZ. Mutation of conserved residues within the interfacial membrane anchor of yeast Taz altered its membrane association by either mistargeting the protein to the mitochondrial matrix or altering its assembly within the mitochondrial membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16880272" 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="#25" class="mim-tip-reference" title="Sessions, O. M., Barrows, N. J., Souza-Neto, J. A., Robinson, T. J., Hershey, C. L., Rodgers, M. A., Ramirez, J. L., Dimopoulos, G., Yang, P. L., Pearson, J. L., Garcia-Blanco, M. A. <strong>Discovery of insect and human dengue virus host factors.</strong> Nature 458: 1047-1050, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19396146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19396146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19396146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19396146">Sessions et al. (2009)</a> identified insect host factors required for dengue virus (see <a href="/entry/614371">614371</a>) propagation by carrying out a genomewide RNA interference screen in D. melanogaster cells using a well established 22,632 double-stranded RNA library. This screen identified 116 candidate dengue virus host factors (DVHFs). Although some were previously associated with flaviviruses, most of the DVHFs were newly implicated in dengue virus propagation. The dipteran DVHFs had 82 readily recognizable human homologs, and, using a targeted short interfering RNA screen, <a href="#25" class="mim-tip-reference" title="Sessions, O. M., Barrows, N. J., Souza-Neto, J. A., Robinson, T. J., Hershey, C. L., Rodgers, M. A., Ramirez, J. L., Dimopoulos, G., Yang, P. L., Pearson, J. L., Garcia-Blanco, M. A. <strong>Discovery of insect and human dengue virus host factors.</strong> Nature 458: 1047-1050, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19396146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19396146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19396146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19396146">Sessions et al. (2009)</a> showed that 42 of these are human DVHFs. These include NPR2 (<a href="/entry/108961">108961</a>), SEC61B (<a href="/entry/609214">609214</a>), TMEM214 (<a href="/entry/615301">615301</a>), TAZ, EXDL2 (<a href="/entry/616940">616940</a>), and CNOT2 (<a href="/entry/604909">604909</a>). <a href="#25" class="mim-tip-reference" title="Sessions, O. M., Barrows, N. J., Souza-Neto, J. A., Robinson, T. J., Hershey, C. L., Rodgers, M. A., Ramirez, J. L., Dimopoulos, G., Yang, P. L., Pearson, J. L., Garcia-Blanco, M. A. <strong>Discovery of insect and human dengue virus host factors.</strong> Nature 458: 1047-1050, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19396146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19396146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19396146[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19396146">Sessions et al. (2009)</a> concluded that this overlap indicates notable conservation of required factors between dipteran and human hosts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19396146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Houtkooper, R. H., Turkenburg, M., Poll-The, B. T., Karall, D., Perez-Cerda, C., Morrone, A., Malvagia, S., Wanders, R. J., Kulik, W., Vaz, F. M. <strong>The enigmatic role of tafazzin in cardiolipin metabolism.</strong> Biochim. Biophys. Acta 1788: 2003-2014, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19619503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19619503</a>] [<a href="https://doi.org/10.1016/j.bbamem.2009.07.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19619503">Houtkooper et al. (2009)</a> provided an overview of current knowledge on the role of tafazzin in cardiolipin metabolism. In addition, they performed quantitative PCR analysis of different tafazzin mRNA splice variants in human tissues and correlated this with the tissue cardiolipin profile. The data suggested that tafazzin lacking exon 5 most likely represents the active tafazzin variant, but the involvement of other variants in cardiolipin remodeling was not excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19619503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> identified mutations in the tafazzin gene which introduced stop codons in the open reading frame, aborting translation of most of the putative proteins. Using mutation analysis on DNA samples from members of 4 families with Barth syndrome, 2 large families used by <a href="#2" class="mim-tip-reference" title="Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M., Partington, M. W., Mulley, J. C., Nelson, J., Lui, K., Sillence, D. O. <strong>Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.</strong> Am. J. Med. Genet. 45: 327-334, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434619</a>] [<a href="https://doi.org/10.1002/ajmg.1320450309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8434619">Ades et al. (1993)</a> and <a href="#9" class="mim-tip-reference" title="Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J. M., Baas, F., Barth, P. G. <strong>Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.</strong> Am. J. Hum. Genet. 48: 481-485, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998334</a>]" pmid="1998334">Bolhuis et al. (1991)</a> for linkage mapping of the gene and 2 smaller families with the diagnostic features of the disease, <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> found unique mutations in all patients. In 1 case the mutation was in exon 7 (<a href="#0004">300394.0004</a>), one of the alternative exons. The mutation was predicted to cause truncation of most of the tafazzin proteins, but some minor forms lacking exon 7 could still be synthesized. The other 3 mutations (<a href="#0001">300394.0001</a>, <a href="#0002">300394.0002</a>, and <a href="#0003">300394.0003</a>) were in the second exon and in the 3-prime splice junction of intron 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8434619+8630491+1998334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> analyzed the G4.5 gene in 8 additional probands with Barth syndrome and identified mutations in 6 of them (see, e.g., <a href="#0006">300394.0006</a>). In addition, in affected individuals from 3 families who had been diagnosed with X-linked infantile cardiomyopathy and/or endocardial fibroelastosis, <a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> identified a 1-bp deletion and a missense mutation in the G4.5 gene (<a href="#0005">300394.0005</a> and <a href="#0014">300394.0014</a>, respectively). <a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> noted that the clinical data on these patients was limited and whether other features of Barth syndrome were present could not be established; they suggested that mutations in the G4.5 gene should be considered as a possible cause of infantile CMD affecting males, even in the absence of typical Barth syndrome signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382096" 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="#7" class="mim-tip-reference" title="Bleyl, S. B., Mumford, B. R., Brown-Harrison, M.-C., Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K., Chin, T. K. <strong>Xq28-linked noncompaction of the left ventricular myocardium : prenatal diagnosis and pathologic analysis of affected individuals.</strong> Am. J. Med. Genet. 72: 257-265, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332651</a>]" pmid="9332651">Bleyl et al. (1997)</a> screened the G4.5 gene for mutations in a family with noncompaction of left ventricular myocardium (LVNC; see <a href="/entry/302060">302060</a>) by SSCP and direct sequencing and found a novel glycine-to-arginine substitution at position 197 (<a href="#0006">300394.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F., Iyer, G. S., Funanage, V. L., Proujansky, R. <strong>Mutation characterization and genotype-phenotype correlation in Barth syndrome.</strong> Am. J. Hum. Genet. 61: 1053-1058, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345098</a>] [<a href="https://doi.org/10.1086/301604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345098">Johnston et al. (1997)</a> evaluated 14 Barth syndrome pedigrees and found mutations in the G4.5 gene in all, 5 missense mutations (see, e.g., <a href="#0006">300394.0006</a>), 4 splice site mutations (see, e.g., <a href="#0007">300394.0007</a>), 3 deletions, 1 insertion, and 1 nonsense mutation. Nine of the 14 mutations were predicted to disrupt significantly the protein products. The occurrence of missense mutations in exons 3 and 8 suggested that these exons encode essential portions of the G4.5 proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9345098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals and obligate carriers from 5 unrelated families with Barth syndrome who presented to a hospital in Bristol, England, over a 7-year period, <a href="#10" class="mim-tip-reference" title="Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P. W., Newbury-Ecob, R. A., Steward, C. G. <strong>Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.</strong> J. Pediat. 135: 311-315, 1999. Note: Erratum: J. Pediat. 136: 136 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484795</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484795">Cantlay et al. (1999)</a> identified mutations in the G4.5 gene (see, e.g., <a href="#0006">300394.0006</a>). The authors suggested that Barth syndrome may be more common than previously believed, and concluded that all young male children with idiopathic dilated cardiomyopathy should be investigated for underlying Barth syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X., Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y., Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin, J. A., Noncompaction Study Collaborators. <strong>Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.</strong> Molec. Genet. Metab. 77: 319-325, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468278</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00195-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468278">Chen et al. (2002)</a> analyzed the G4.5 gene in 27 Japanese patients with left ventricular noncompaction, including 14 familial cases from 10 families and 13 sporadic cases, and identified a splice site mutation in 1 family (<a href="#0013">300394.0013</a>). Review of the G4.5 mutations identified to date in 38 reported cases of Barth syndrome and other cardiomyopathies revealed no correlation between location or type of mutation and either cardiac phenotype or disease severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#28" class="mim-tip-reference" title="Xu, Y., Condell, M., Plesken, H., Edelman-Novemsky, I., Ma, J., Ren, M., Schlame, M. <strong>A Drosophila model of Barth syndrome.</strong> Proc. Nat. Acad. Sci. 103: 11584-11588, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16855048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16855048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16855048[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0603242103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16855048">Xu et al. (2006)</a> generated homozygous Drosophila mutants that were unable to express full-length tafazzin and observed an 80% reduction of cardiolipin with diversification of its molecular composition, similar to the changes seen in Barth syndrome patients. Other phospholipids were not affected. Flies with the tafazzin mutation showed reduced locomotor activity, and their indirect flight muscles displayed frequent mitochondrial abnormalities, mostly in the cristae membranes. <a href="#28" class="mim-tip-reference" title="Xu, Y., Condell, M., Plesken, H., Edelman-Novemsky, I., Ma, J., Ren, M., Schlame, M. <strong>A Drosophila model of Barth syndrome.</strong> Proc. Nat. Acad. Sci. 103: 11584-11588, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16855048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16855048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16855048[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0603242103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16855048">Xu et al. (2006)</a> concluded that a lack of full-length tafazzin is responsible for cardiolipin deficiency, which is integral to the disease mechanism and leads to mitochondrial myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16855048" 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>Using inducible short hairpin RNAs (shRNAs), <a href="#1" class="mim-tip-reference" title="Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z. <strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong> J. Biol. Chem. 286: 899-908, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21068380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21068380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21068380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.171439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21068380">Acehan et al. (2011)</a> targeted Taz knockdown in mice beginning in early embryos. Taz knockdown induced a dramatic decrease in tetralinoleoyl cardiolipin content, with a concomitant shift toward more saturated cardiolipin species and accumulation of monolysocardiolipins. Ultrastructural abnormalities became evident in skeletal muscle by 2 months of age and in cardiac muscle by 8 months of age. No abnormalities were observed in other tissues. Mitochondrial abnormalities included disruption of mitochondrial architecture with proliferation, vacuolization, and signs of mitophagy. Affected muscle also showed myofibrillar disarray and dilation of mitochondrion- and endoplasmic reticulum-associated vesicles. Taz knockdown led to impaired cardiac function, with dilation and loss of muscle mass in left ventricle and reduced fractional shortening and ejection fraction. <a href="#1" class="mim-tip-reference" title="Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z. <strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong> J. Biol. Chem. 286: 899-908, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21068380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21068380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21068380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.171439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21068380">Acehan et al. (2011)</a> concluded that continuous cardiolipin deficiency has a progressive and cumulative effect on mitochondrial structures in sarcomeric tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21068380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Independently, <a href="#26" class="mim-tip-reference" title="Soustek, M. S., Falk, D. J., Mah, C. S., Toth, M. J., Schlame, M., Lewin, A. S., Byrne, B. J. <strong>Characterization of a transgenic short hairpin RNA-induced murine model of tafazzin deficiency.</strong> Hum. Gene Therapy 22: 865-871, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21091282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21091282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21091282[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1089/hum.2010.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21091282">Soustek et al. (2011)</a> knocked down Taz expression in mice using inducible shRNAs and reported findings similar to those of <a href="#1" class="mim-tip-reference" title="Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z. <strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong> J. Biol. Chem. 286: 899-908, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21068380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21068380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21068380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.171439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21068380">Acehan et al. (2011)</a>. <a href="#26" class="mim-tip-reference" title="Soustek, M. S., Falk, D. J., Mah, C. S., Toth, M. J., Schlame, M., Lewin, A. S., Byrne, B. J. <strong>Characterization of a transgenic short hairpin RNA-induced murine model of tafazzin deficiency.</strong> Hum. Gene Therapy 22: 865-871, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21091282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21091282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21091282[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1089/hum.2010.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21091282">Soustek et al. (2011)</a> found reduced isometric contractile strength in Taz-knockdown soleus muscle at 2 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21068380+21091282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/300394" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300394[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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<strong>.0001 BARTH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603377590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603377590;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=rs1603377590" 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=rs1603377590" 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=RCV000011849" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011849" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011849</a>
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<p>In patient GW with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> demonstrated a G-to-A transition at position -1 at the 3-prime end of intron 2 of the 4.5 gene (nucleotide position 527-1 of their cDNA). As a G is the base immediately 3-prime to the mutation (in exon 3), the AG splice site was reconstituted, with a 1-bp shift. Consequently, RT-PCR analysis showed a normal-sized band. Direct sequencing of the gel-purified band, however, demonstrated a 1-base deletion in cDNA, which introduced a stop codon 3 residues after the splice junction. See also <a href="#0003">300394.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 BARTH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894941 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894941;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=rs104894941" 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=rs104894941" 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=RCV000011850 OR RCV001091834" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011850, RCV001091834" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011850...</a>
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<p>In the family with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>) first reported by <a href="#3" class="mim-tip-reference" title="Barth, P. G., Scholte, J. A., Berden, J. A., Van der Klei-Van Moorsel, J. M., Luyt-Houwen, I. E. M., Van't Veer-Korthof, E. T., Van der Harten, J. J., Sobotka-Plojhar, M. A. <strong>An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.</strong> J. Neurol. Sci. 62: 327-355, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142097</a>] [<a href="https://doi.org/10.1016/0022-510x(83)90209-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6142097">Barth et al. (1983)</a>, <a href="#9" class="mim-tip-reference" title="Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J. M., Baas, F., Barth, P. G. <strong>Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.</strong> Am. J. Hum. Genet. 48: 481-485, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998334</a>]" pmid="1998334">Bolhuis et al. (1991)</a> demonstrated linkage to Xq28. In affected members of the family, <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> identified a C-to-G transversion at nucleotide position 441 of the G4.5 gene, resulting in a tyr51-to-ter (Y51X) substitution. The mutation was located in the second exon. <a href="#4" class="mim-tip-reference" title="Barth, P. G., Valianpour, F., Bowen, V. M., Lam, J., Duran, M., Vaz, F. M., Wanders, R. J. A. <strong>X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.</strong> Am. J. Med. Genet. 126A: 349-354, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098233</a>] [<a href="https://doi.org/10.1002/ajmg.a.20660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098233">Barth et al. (2004)</a> provided an update on the pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15098233+8630491+6142097+1998334" 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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<strong>.0003 BARTH SYNDROME</strong>
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TAFAZZIN, IVS2AS, G-C, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603377590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603377590;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=rs1603377590" 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=rs1603377590" 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=RCV000011851" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011851" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011851</a>
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<p>In patient K with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> demonstrated a G-to-C transversion in the last nucleotide of intron 2 (cDNA nucleotide 527-1) of the G4.5 gene. Thus, this mutation has, as in patient GW (<a href="#0001">300394.0001</a>), affected the 3-prime splice signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 BARTH SYNDROME</strong>
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TAFAZZIN, 1-BP INS, NT868
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148211636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148211636;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=rs2148211636" 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=rs2148211636" 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=RCV000011852" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011852" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011852</a>
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<p>In patient OAT with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), previously reported by <a href="#2" class="mim-tip-reference" title="Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M., Partington, M. W., Mulley, J. C., Nelson, J., Lui, K., Sillence, D. O. <strong>Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.</strong> Am. J. Med. Genet. 45: 327-334, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434619</a>] [<a href="https://doi.org/10.1002/ajmg.1320450309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8434619">Ades et al. (1993)</a>, <a href="#6" class="mim-tip-reference" title="Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D. <strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong> Nature Genet. 12: 385-389, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>] [<a href="https://doi.org/10.1038/ng0496-385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630491">Bione et al. (1996)</a> identified a 1-bp insertion at nucleotide 868 in exon 7 of the G4.5 gene, introducing a frameshift and stop codon after 201 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8434619+8630491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148212610 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148212610;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=rs2148212610" 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=rs2148212610" 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=RCV000011853" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011853" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011853</a>
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<p>In affected members of a large Australian family in which males died in early infancy from congenital dilated cardiomyopathy (BTHS; <a href="/entry/302060">302060</a>), originally reported by <a href="#15" class="mim-tip-reference" title="Gedeon, A. K., Wilson, M. J., Colley, A. C., Sillence, D. O., Mulley, J. C. <strong>X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.</strong> J. Med. Genet. 32: 383-388, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616547</a>] [<a href="https://doi.org/10.1136/jmg.32.5.383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7616547">Gedeon et al. (1995)</a>, <a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> identified a 1-bp deletion in exon 8 of the G4.5 gene, causing a frameshift and resulting in a stop codon after 18 nucleotides. The mutation caused knockout of all the putative tafazzins. The severe clinical manifestations of the disorder (described in 6 affected males and in 8 males suspected of being affected) could thus be related to the severity of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7616547+9382096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs132630277 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs132630277;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=rs132630277" 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=rs132630277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Utah family, <a href="#7" class="mim-tip-reference" title="Bleyl, S. B., Mumford, B. R., Brown-Harrison, M.-C., Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K., Chin, T. K. <strong>Xq28-linked noncompaction of the left ventricular myocardium : prenatal diagnosis and pathologic analysis of affected individuals.</strong> Am. J. Med. Genet. 72: 257-265, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332651</a>]" pmid="9332651">Bleyl et al. (1997)</a> observed 6 males with neonatal onset of left ventricular failure and arrhythmias associated with the pathognomonic echocardiographic findings of isolated left ventricular noncompaction (LVNC; see <a href="/entry/302060">302060</a>). Neutropenia was seen in 2 patients, and another patient had muscle weakness. Genetic linkage analysis localized the causative gene to Xq28. <a href="#8" class="mim-tip-reference" title="Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C., Pysher, T. J., Chin, T. K., Ward, K. <strong>Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.</strong> Am. J. Hum. Genet. 61: 868-872, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382097</a>] [<a href="https://doi.org/10.1086/514879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382097">Bleyl et al. (1997)</a> screened the G4.5 gene with SSCP and direct sequencing revealed a G-A transition in exon 8, resulting in a gly197-to-arg (G197R) substitution at a highly conserved residue. The mutation segregated with LVNC in the family and was not found in 300 unrelated females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9382097+9332651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a male infant who died of Barth syndrome (BTHS; <a href="/entry/302060">302060</a>) at 14 months of age, <a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> identified the G197R mutation in the G4.5 gene. The patient exhibited dilated cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy with Barth syndrome, previously studied at 6.5 years of age by <a href="#12" class="mim-tip-reference" title="Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G., Becker, L. E., Lehotay, D. C., Platt, B.-A., Bridge, P. J., Robinson, B. H., Clarke, J. T. <strong>Barth syndrome: clinical observations and genetic linkage studies.</strong> Am. J. Med. Genet. 50: 255-264, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8042670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8042670</a>] [<a href="https://doi.org/10.1002/ajmg.1320500309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8042670">Christodoulou et al. (1994)</a>, <a href="#19" class="mim-tip-reference" title="Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F., Iyer, G. S., Funanage, V. L., Proujansky, R. <strong>Mutation characterization and genotype-phenotype correlation in Barth syndrome.</strong> Am. J. Hum. Genet. 61: 1053-1058, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345098</a>] [<a href="https://doi.org/10.1086/301604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345098">Johnston et al. (1997)</a> identified the 877G-A transition in exon 8 of the G4.5 gene, resulting in the G197R substitution. The patient presented at 3 months of age with congestive heart failure, and had recurrent episodes of neutropenia. At 6.5 years of age, his height, weight, and head circumference were all below the 3rd centile, and he had a myopathic facial appearance and a nasal quality to his speech. Echocardiography showed moderate cardiac enlargement with left ventricular dilation but no outflow obstruction. Muscle bulk, power, and tone were decreased and he had a waddling gait. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8042670+9345098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 families with Barth syndrome, <a href="#10" class="mim-tip-reference" title="Cantlay, A. M., Shokrollahi, K., Allen, J. T., Lunt, P. W., Newbury-Ecob, R. A., Steward, C. G. <strong>Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.</strong> J. Pediat. 135: 311-315, 1999. Note: Erratum: J. Pediat. 136: 136 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484795</a>] [<a href="https://doi.org/10.1016/s0022-3476(99)70126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484795">Cantlay et al. (1999)</a> identified the G197R mutation in the G4.5 gene. One family presented a history of 5 boys over 2 generations who died from cardiomyopathy between 4 to 6 months of age. The mutation was detected in the proband's unaffected sister, mother, and a maternal aunt. In the other family, the proband presented at 6 months of age with dilated cardiomyopathy and was found to have failure to thrive, skeletal myopathy, intermittent neutropenia and elevated urinary 3-methylglutaconic acid. He underwent cardiac transplantation at 11 months of age, and he died at age 7 years of T-cell non-Hodgkin lymphoma. His mother and maternal grandmother also carried the mutation. <a href="#27" class="mim-tip-reference" title="Steward, C. G., Newbury-Ecob, R. A., Hastings, R., Smithson, S. F., Tsai-Goodman, B., Quarrell, O. W., Kulik, W., Wanders, R., Pennock, M., Williams, M., Cresswell, J. L., Gonzalez, I. L., Brennan, P. <strong>Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.</strong> Prenatal Diag. 30: 970-976, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20812380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20812380</a>] [<a href="https://doi.org/10.1002/pd.2599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20812380">Steward et al. (2010)</a> studied a distant branch of the latter family, in which a known carrier of the G197R mutation gave birth to a male infant who died at 1 week of age due to cardiac decompensation triggered by ventricular arrhythmias. Disease expression in this family was variable: a cousin with BTHS was well until he fell behind on motor milestones at 1 year of age, developed feeding problems and lethargy at 2.5 years, was diagnosed with CMD at 3.5 years, and required cardiac transplantation several months later. Another cousin was only diagnosed with BTHS after the disease was identified in his younger brother, who developed CMD at 3 months of age, without neutropenia; when diagnosed at 3.5 years of age, the older brother's only sign was proximal myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10484795+20812380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with Barth syndrome and their affected cousin, and another unrelated BTHS patient, <a href="#16" class="mim-tip-reference" title="Hastings, R., Steward, C., Tsai-Goodman, B., Newbury-Ecob, R. <strong>Dysmorphology of Barth syndrome.</strong> Clin. Dysmorph. 18: 185-187, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19648820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19648820</a>] [<a href="https://doi.org/10.1097/MCD.0b013e32832a9e62" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19648820">Hastings et al. (2009)</a> identified the G197R mutation in the TAZ gene. The 4 patients exhibited a characteristic facial appearance that was most evident in infancy and included a tall and broad forehead, round face with prominent chin and full cheeks, large ears, and deep-set eyes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19648820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148185111 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148185111;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=rs2148185111" 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=rs2148185111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the proband from pedigree 2 of <a href="#20" class="mim-tip-reference" title="Kelley, R. I., Cheatham, J. P., Clark, B. J., Nigro, M. A., Powell, B. R., Sherwood, G. W., Sladky, J. T., Swisher, W. P. <strong>X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.</strong> J. Pediat. 119: 738-747, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719174</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80289-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1719174">Kelley et al. (1991)</a> with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), <a href="#19" class="mim-tip-reference" title="Johnston, J., Kelley, R. I., Feigenbaum, A., Cox, G. F., Iyer, G. S., Funanage, V. L., Proujansky, R. <strong>Mutation characterization and genotype-phenotype correlation in Barth syndrome.</strong> Am. J. Hum. Genet. 61: 1053-1058, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345098</a>] [<a href="https://doi.org/10.1086/301604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345098">Johnston et al. (1997)</a> demonstrated a G-to-C transversion at nucleotide 5 in intron 1 of the G4.5 gene. The mutation disrupted proper processing of the transcript. The proband presented with congestive heart failure at 4 months of age and was found to have biventricular dilated hypertrophy. Electromyography showed changes consistent with myopathy, and metabolic studies showed mild lactic acidosis and increased urinary levels of lactate, fumarate, 3-methylglutarate, and 3-methylglutaconate. At 2 years of age, he had a low absolute neutrophil count but no unusual bacterial infections. Cognitive development was normal, whereas growth was below the third percentile, and proximal and distal muscle weakness persisted. The proband had 2 maternal uncles who had died of 'massive cardiac enlargement' at 8 months and 11 months of age, respectively, and a third uncle had hypotonia, weakness, exercise intolerance, and impaired growth during childhood and early adolescence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1719174+9345098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011856" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011856" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011856</a>
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<p><a href="#24" class="mim-tip-reference" title="Sakamoto, O., Ohura, T., Katsushima, Y., Fujiwara, I., Ogawa, E., Miyabayashi, S., Iinuma, K. <strong>A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5-prime splice donor site with variant GC consensus and elongation of the upstream exon.</strong> Hum. Genet. 109: 559-563, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11735032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11735032</a>] [<a href="https://doi.org/10.1007/s00439-001-0612-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11735032">Sakamoto et al. (2001)</a> found an unusual intronic mutation of the TAZ gene in a Japanese patient with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>). RT-PCR showed aberrant splicing and elongation of exon 3 because of insertion of 106 bases between exons 3 and 4. Genomic DNA showed an intronic mutation 4 bases downstream from the new cleavage site. The mutation, IVS3+110G-A, created a novel 5-prime splice site that showed GC but not GT, and the additional splice site was used preferentially over the upstream authentic splice site. The patient's development was delayed and at the age of 4 years cardiomyopathy was diagnosed. At age 9 years, his neutrophil count was abnormally low. Electrocardiographic changes consisted of ST-T wave depressions. Increased urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and ethylhydracrylic acid was found. Death occurred suddenly at the age of 10 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11735032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 BARTH SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894937 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894937;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=rs104894937" 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=rs104894937" 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=RCV000011857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011857</a>
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<p>In a 5-month-old male infant with ventricular noncompaction associated with a dilated, mildly hypertrophic heart, with poor systolic function on echocardiogram and clinical heart failure, who also had neutropenia and 3-methylglutaconic aciduria (BTHS; <a href="/entry/302060">302060</a>), <a href="#18" class="mim-tip-reference" title="Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese, K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H., Bowles, N. E., Towbin, J. A. <strong>Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.</strong> Circulation 103: 1256-1263, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11238270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11238270</a>] [<a href="https://doi.org/10.1161/01.cir.103.9.1256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11238270">Ichida et al. (2001)</a> identified a 352T-C transition in the TAZ gene, resulting in a cys118-to-arg (C118R) substitution. The unaffected mother was heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11238270" 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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TAFAZZIN, IVS1AS, 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">rs1603376833 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603376833;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=rs1603376833" 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=rs1603376833" 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=RCV000011858" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011858" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011858</a>
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<p><a href="#18" class="mim-tip-reference" title="Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese, K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H., Bowles, N. E., Towbin, J. A. <strong>Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.</strong> Circulation 103: 1256-1263, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11238270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11238270</a>] [<a href="https://doi.org/10.1161/01.cir.103.9.1256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11238270">Ichida et al. (2001)</a> identified a splice acceptor site mutation in exon 2 of the TAZ gene (398-2A-G) resulting in phenotypes ranging from classic Barth syndrome (BTHS; <a href="/entry/302060">302060</a>) to fatal infantile dilated cardiomyopathy to late-onset symptomatic and asymptomatic dilated cardiomyopathy. Six males in 5 separate sibships related as first cousins and connected through carrier females were affected in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11238270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 BARTH SYNDROME</strong>
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TAFAZZIN, ARG94SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894942;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=rs104894942" 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=rs104894942" 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=RCV000011859" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011859" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011859</a>
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<p>In a Japanese patient with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>) who had cardiomyopathy associated with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria, <a href="#23" class="mim-tip-reference" title="Sakamoto, O., Kitoh, T., Ohura, T., Ohya, N., Iinuma, K. <strong>Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome.</strong> J. Hum. Genet. 47: 229-231, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12032589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12032589</a>] [<a href="https://doi.org/10.1007/s100380200030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12032589">Sakamoto et al. (2002)</a> identified an arg94-to-ser (R94S) missense mutation in the TAZ gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12032589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 BARTH SYNDROME</strong>
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TAFAZZIN, 4-BP DEL, AGTG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603381671 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603381671;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=rs1603381671" 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=rs1603381671" 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=RCV000011860" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011860" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011860</a>
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<p>In a 12-year-old boy with Barth syndrome (BTHS; <a href="/entry/302060">302060</a>), <a href="#22" class="mim-tip-reference" title="Marziliano, N., Mannarino, S., Nespoli, L., Diegoli, M., Pasotti, M., Malattia, C., Grasso, M., Pilotto, A., Porcu, E., Raisaro, A., Raineri, C., Dore, R., Maggio, P. P., Brega, A., Arbustini, E. <strong>Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.</strong> Am. J. Med. Genet. 143A: 907-915, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17394203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17394203</a>] [<a href="https://doi.org/10.1002/ajmg.a.31653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17394203">Marziliano et al. (2007)</a> identified a 4-bp deletion in exon 8 of the TAZ gene inherited from his unaffected mother. The boy had left ventricular noncompaction and dilated cardiomyopathy, which was detected at 3 months, skeletal myopathy, recurrent oral aphthous ulcers, and cyclic neutropenia. Left ventricular function progressively improved since age 5 years and became subclinical and normal; he presented at age 11 with recurrent ulcers and signs of myopathy. A peripheral blood sample from the patient showed TAZ expression that was not significantly lower compared to controls, but myocardial TAZ expression in an endomyocardial biopsy performed on the proband at 6 months of age was significantly lower compared to age-matched controls. TAZ expression declined with age in controls as well, suggesting that tafazzin is essential during fetal and early postnatal life. The proband also carried a heterozygous mutation in the LDB3 gene (<a href="/entry/605906">605906</a>), which is associated with left ventricular noncompaction. The patient's father and brother also carried the LDB3 mutation and had evidence of left ventricular trabeculation without dysfunction. The significance of the LDB3 mutation was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17394203" 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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TAFAZZIN, IVS8AS, G-C, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776741;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=rs587776741" 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=rs587776741" 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=RCV000011861" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011861" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011861</a>
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<p>In a large Japanese family with a history of unexplained male infant deaths over 4 generations, in which the proband and a distant male relative presented at 2 months and 3 months of age, respectively, with heart failure and left ventricular noncompaction (BTHS; <a href="/entry/302060">302060</a>), <a href="#11" class="mim-tip-reference" title="Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X., Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y., Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin, J. A., Noncompaction Study Collaborators. <strong>Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.</strong> Molec. Genet. Metab. 77: 319-325, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468278</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00195-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468278">Chen et al. (2002)</a> identified a -1G-C transversion in IVS8 of the TAZ gene. RT-PCR analysis of RNA from a heterozygous carrier confirmed that the mutation abolishes splicing at the intron 8 splice acceptor sequence, resulting in skipping of exon 9. The mutation was not found in 100 Japanese or 100 Caucasian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 BARTH SYNDROME</strong>
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TAFAZZIN, GLY240ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907218 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907218;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=rs387907218" 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=rs387907218" 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=RCV000029171 OR RCV000283338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029171, RCV000283338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029171...</a>
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<p>In 2 unrelated families in which multiple males had died in infancy with dilated cardiomyopathy (BTHS; <a href="/entry/302060">302060</a>), <a href="#14" class="mim-tip-reference" title="D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D. <strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong> Am. J. Hum. Genet. 61: 862-867, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382096</a>] [<a href="https://doi.org/10.1086/514886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382096">D'Adamo et al. (1997)</a> identified a 1006G-A transition in exon 10 of the TAZ gene, resulting in a gly240-to-arg (G240R) substitution. In 1 of the families, which had originally been reported by <a href="#21" class="mim-tip-reference" title="Lindenbaum, R. H., Andrews, P. S., Khan, A. S. S. I. <strong>Two cases of endocardial fibroelastosis--possible X-linked determination.</strong> Brit. Heart J. 35: 38-39, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4685904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4685904</a>] [<a href="https://doi.org/10.1136/hrt.35.1.38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4685904">Lindenbaum et al. (1973)</a> as having endocardial fibroelastosis, the G240R mutation was detected in 3 obligate carriers. In the other family, in which 3 affected males had died of cardiac failure in infancy and were diagnosed with endocardial fibroelastosis at autopsy, the mutation was detected in all affected individuals and in the proband's mother. The mutation was not found in 100 normal chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4685904+9382096" 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="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Barth1981" class="mim-tip-reference" title="Barth, P. G., Van't Veer-Korthof, E. T., Van Delden, L., Van Dam, K., Van der Harten, J. J., Kuipers, J. R. G. <strong>An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. In: Busch, H. F. M.; Jennekens, F. G. I.; Schotte, H. R. (eds.): Mitochondria and Muscular Diseases.</strong> Beetsterzwaag, The Netherlands: Mefar (pub.) 1981. Pp. 161-164.">Barth et al. (1981)</a>
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<br />
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<strong>REFERENCES</strong>
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<a id="Acehan2011" class="mim-anchor"></a>
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Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z.
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<strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong>
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J. Biol. Chem. 286: 899-908, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21068380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21068380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21068380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21068380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M110.171439" target="_blank">Full Text</a>]
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<a id="Ades1993" class="mim-anchor"></a>
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Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M., Partington, M. W., Mulley, J. C., Nelson, J., Lui, K., Sillence, D. O.
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<strong>Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.</strong>
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Am. J. Med. Genet. 45: 327-334, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8434619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8434619</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8434619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450309" target="_blank">Full Text</a>]
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<a id="Barth1983" class="mim-anchor"></a>
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Barth, P. G., Scholte, J. A., Berden, J. A., Van der Klei-Van Moorsel, J. M., Luyt-Houwen, I. E. M., Van't Veer-Korthof, E. T., Van der Harten, J. J., Sobotka-Plojhar, M. A.
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<strong>An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.</strong>
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J. Neurol. Sci. 62: 327-355, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6142097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(83)90209-5" target="_blank">Full Text</a>]
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<a id="Barth2004" class="mim-anchor"></a>
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Barth, P. G., Valianpour, F., Bowen, V. M., Lam, J., Duran, M., Vaz, F. M., Wanders, R. J. A.
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<strong>X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.</strong>
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Am. J. Med. Genet. 126A: 349-354, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20660" target="_blank">Full Text</a>]
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<a id="Barth1981" class="mim-anchor"></a>
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<div class="">
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Barth, P. G., Van't Veer-Korthof, E. T., Van Delden, L., Van Dam, K., Van der Harten, J. J., Kuipers, J. R. G.
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<strong>An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. In: Busch, H. F. M.; Jennekens, F. G. I.; Schotte, H. R. (eds.): Mitochondria and Muscular Diseases.</strong>
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Beetsterzwaag, The Netherlands: Mefar (pub.) 1981. Pp. 161-164.
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<a id="Bione1996" class="mim-anchor"></a>
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Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D.
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<strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong>
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Nature Genet. 12: 385-389, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630491" 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/ng0496-385" target="_blank">Full Text</a>]
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Bleyl, S. B., Mumford, B. R., Brown-Harrison, M.-C., Pagotto, L. T., Carey, J. C., Pysher, T. J., Ward, K., Chin, T. K.
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<strong>Xq28-linked noncompaction of the left ventricular myocardium : prenatal diagnosis and pathologic analysis of affected individuals.</strong>
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Am. J. Med. Genet. 72: 257-265, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Bleyl1997" class="mim-anchor"></a>
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Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C., Pysher, T. J., Chin, T. K., Ward, K.
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<strong>Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.</strong>
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Am. J. Hum. Genet. 61: 868-872, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/514879" target="_blank">Full Text</a>]
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<a id="Bolhuis1991" class="mim-anchor"></a>
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Bolhuis, P. A., Hensels, G. W., Hulsebos, T. J. M., Baas, F., Barth, P. G.
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<strong>Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.</strong>
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Am. J. Hum. Genet. 48: 481-485, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1998334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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J. Pediat. 135: 311-315, 1999. Note: Erratum: J. Pediat. 136: 136 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(99)70126-5" target="_blank">Full Text</a>]
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Chen, R., Tsuji, T., Ichida, F., Bowles, K. R., Yu, X., Watanabe, S., Hirono, K., Tsubata, S., Hamamichi, Y., Ohta, J., Imai, Y., Bowles, N. E., Miyawaki, T., Towbin, J. A., Noncompaction Study Collaborators.
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<strong>Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1096-7192(02)00195-6" target="_blank">Full Text</a>]
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<a id="Christodoulou1994" class="mim-anchor"></a>
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Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G., Becker, L. E., Lehotay, D. C., Platt, B.-A., Bridge, P. J., Robinson, B. H., Clarke, J. T.
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<strong>Barth syndrome: clinical observations and genetic linkage studies.</strong>
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Am. J. Med. Genet. 50: 255-264, 1994.
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[<a href="https://doi.org/10.1002/ajmg.1320500309" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1083/jcb.200605043" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/514886" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.5.383" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/MCD.0b013e32832a9e62" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.bbamem.2009.07.009" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.103.9.1256" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/301604" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16855048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16855048</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16855048[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16855048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0603242103" target="_blank">Full Text</a>]
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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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Marla J. F. O'Neill - updated : 7/17/2012
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 2/23/2012<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Ada Hamosh - updated : 5/14/2009<br>Ada Hamosh - updated : 5/11/2009<br>Marla J. F. O'Neill - updated : 4/29/2009<br>Cassandra L. Kniffin - updated : 7/17/2007<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Victor A. McKusick - updated : 5/11/2004<br>Victor A. McKusick - updated : 6/12/2002
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 5/9/2002
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/04/2024
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 03/21/2022<br>mgross : 03/18/2022<br>carol : 07/13/2018<br>alopez : 07/12/2018<br>carol : 04/21/2016<br>alopez : 5/24/2013<br>terry : 7/30/2012<br>terry : 7/18/2012<br>carol : 7/17/2012<br>mgross : 6/6/2012<br>terry : 2/23/2012<br>mgross : 12/1/2011<br>carol : 6/7/2010<br>terry : 5/11/2010<br>alopez : 5/14/2009<br>alopez : 5/14/2009<br>terry : 5/11/2009<br>wwang : 5/8/2009<br>terry : 4/29/2009<br>wwang : 7/19/2007<br>ckniffin : 7/17/2007<br>wwang : 10/11/2006<br>terry : 4/21/2005<br>tkritzer : 6/2/2004<br>terry : 5/11/2004<br>cwells : 6/19/2002<br>terry : 6/12/2002<br>carol : 5/10/2002<br>ckniffin : 5/10/2002
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<span class="mim-font">
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<strong>*</strong> 300394
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<h3>
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<span class="mim-font">
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TAFAZZIN, PHOSPHOLIPID-LYSOPHOSPHOLIPID TRANSACYLASE; TAFAZZIN
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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TAZ<br />
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G4.5
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TAFAZZIN</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 297231002;
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<strong>ICD10CM:</strong> E78.71;
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<strong>
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<em>
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Cytogenetic location: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:154,411,539-154,421,726 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<td rowspan="1">
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<span class="mim-font">
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Xq28
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<span class="mim-font">
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Barth syndrome
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<td>
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<span class="mim-font">
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302060
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<span class="mim-font">
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X-linked recessive
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<td>
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<span class="mim-font">
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3
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cardiolipin is a complex glycerophospholipid with 4 acyl groups that localizes to the mitochondrial inner membrane and has a role in mitochondrial structure and function. TAZ is a mitochondrial transacylase that catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties (Acehan et al., 2011). </p>
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<div>
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<br />
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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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<span class="mim-text-font">
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<p>Bione et al. (1996) identified a gene that is located in the gene-rich region Xq28 where Barth syndrome (302060) maps. The gene, which they termed G4.5, was expressed at high levels in cardiac and skeletal muscle. Different mRNAs were produced by alternative splicing of the primary G4.5 transcript, encoding proteins that differed at their N terminus and in the central region. These proteins, which Bione et al. (1996) termed tafazzins, have no known similarities to other proteins. The longest encoded protein contains 292 amino acids. Two regions of the proteins may be functionally significant. The highly hydrophobic stretch of 30 residues at the N terminus may serve as a membrane anchor. The shortest forms of tafazzins (lacking the first 2 exons) do not have any hydrophobic sequence at the N terminus and may be soluble cytoplasmic proteins. The second variable region is the central portion between amino acids 124 and 195. Removal of exons 5, 6, and 7 would progressively shorten a hydrophilic domain of the protein, which may serve as an exposed loop interacting with other proteins. Accordingly, the 2 most abundant forms differ in the sequence encoded in exon 5, which is also the longest and most hydrophilic. RT-PCR revealed tissue-specific expression of several TAZ variants in leukocytes, fibroblasts, heart, and skeletal muscle. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bione et al. (1996) determined that the TAZ gene contains 11 exons and that its 5-prime end maps to a CpG island. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By positional cloning, Bione et al. (1996) identified the TAZ gene within the critical Barth syndrome region on Xq28. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</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>Claypool et al. (2006) showed that yeast Taz localized to both the inner and outer mitochondrial membranes via an 18-amino acid integral interfacial membrane anchor that integrated into, but not through, the lipid bilayers. Several residues within this domain are either conserved or identical in mouse and human TAZ. Mutation of conserved residues within the interfacial membrane anchor of yeast Taz altered its membrane association by either mistargeting the protein to the mitochondrial matrix or altering its assembly within the mitochondrial membrane. </p><p>Sessions et al. (2009) identified insect host factors required for dengue virus (see 614371) propagation by carrying out a genomewide RNA interference screen in D. melanogaster cells using a well established 22,632 double-stranded RNA library. This screen identified 116 candidate dengue virus host factors (DVHFs). Although some were previously associated with flaviviruses, most of the DVHFs were newly implicated in dengue virus propagation. The dipteran DVHFs had 82 readily recognizable human homologs, and, using a targeted short interfering RNA screen, Sessions et al. (2009) showed that 42 of these are human DVHFs. These include NPR2 (108961), SEC61B (609214), TMEM214 (615301), TAZ, EXDL2 (616940), and CNOT2 (604909). Sessions et al. (2009) concluded that this overlap indicates notable conservation of required factors between dipteran and human hosts. </p><p>Houtkooper et al. (2009) provided an overview of current knowledge on the role of tafazzin in cardiolipin metabolism. In addition, they performed quantitative PCR analysis of different tafazzin mRNA splice variants in human tissues and correlated this with the tissue cardiolipin profile. The data suggested that tafazzin lacking exon 5 most likely represents the active tafazzin variant, but the involvement of other variants in cardiolipin remodeling was not excluded. </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 patients with Barth syndrome (BTHS; 302060), Bione et al. (1996) identified mutations in the tafazzin gene which introduced stop codons in the open reading frame, aborting translation of most of the putative proteins. Using mutation analysis on DNA samples from members of 4 families with Barth syndrome, 2 large families used by Ades et al. (1993) and Bolhuis et al. (1991) for linkage mapping of the gene and 2 smaller families with the diagnostic features of the disease, Bione et al. (1996) found unique mutations in all patients. In 1 case the mutation was in exon 7 (300394.0004), one of the alternative exons. The mutation was predicted to cause truncation of most of the tafazzin proteins, but some minor forms lacking exon 7 could still be synthesized. The other 3 mutations (300394.0001, 300394.0002, and 300394.0003) were in the second exon and in the 3-prime splice junction of intron 2. </p><p>D'Adamo et al. (1997) analyzed the G4.5 gene in 8 additional probands with Barth syndrome and identified mutations in 6 of them (see, e.g., 300394.0006). In addition, in affected individuals from 3 families who had been diagnosed with X-linked infantile cardiomyopathy and/or endocardial fibroelastosis, D'Adamo et al. (1997) identified a 1-bp deletion and a missense mutation in the G4.5 gene (300394.0005 and 300394.0014, respectively). D'Adamo et al. (1997) noted that the clinical data on these patients was limited and whether other features of Barth syndrome were present could not be established; they suggested that mutations in the G4.5 gene should be considered as a possible cause of infantile CMD affecting males, even in the absence of typical Barth syndrome signs. </p><p>Bleyl et al. (1997) screened the G4.5 gene for mutations in a family with noncompaction of left ventricular myocardium (LVNC; see 302060) by SSCP and direct sequencing and found a novel glycine-to-arginine substitution at position 197 (300394.0006). </p><p>Johnston et al. (1997) evaluated 14 Barth syndrome pedigrees and found mutations in the G4.5 gene in all, 5 missense mutations (see, e.g., 300394.0006), 4 splice site mutations (see, e.g., 300394.0007), 3 deletions, 1 insertion, and 1 nonsense mutation. Nine of the 14 mutations were predicted to disrupt significantly the protein products. The occurrence of missense mutations in exons 3 and 8 suggested that these exons encode essential portions of the G4.5 proteins. </p><p>In affected individuals and obligate carriers from 5 unrelated families with Barth syndrome who presented to a hospital in Bristol, England, over a 7-year period, Cantlay et al. (1999) identified mutations in the G4.5 gene (see, e.g., 300394.0006). The authors suggested that Barth syndrome may be more common than previously believed, and concluded that all young male children with idiopathic dilated cardiomyopathy should be investigated for underlying Barth syndrome. </p><p>Chen et al. (2002) analyzed the G4.5 gene in 27 Japanese patients with left ventricular noncompaction, including 14 familial cases from 10 families and 13 sporadic cases, and identified a splice site mutation in 1 family (300394.0013). Review of the G4.5 mutations identified to date in 38 reported cases of Barth syndrome and other cardiomyopathies revealed no correlation between location or type of mutation and either cardiac phenotype or disease severity. </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>Xu et al. (2006) generated homozygous Drosophila mutants that were unable to express full-length tafazzin and observed an 80% reduction of cardiolipin with diversification of its molecular composition, similar to the changes seen in Barth syndrome patients. Other phospholipids were not affected. Flies with the tafazzin mutation showed reduced locomotor activity, and their indirect flight muscles displayed frequent mitochondrial abnormalities, mostly in the cristae membranes. Xu et al. (2006) concluded that a lack of full-length tafazzin is responsible for cardiolipin deficiency, which is integral to the disease mechanism and leads to mitochondrial myopathy. </p><p>Using inducible short hairpin RNAs (shRNAs), Acehan et al. (2011) targeted Taz knockdown in mice beginning in early embryos. Taz knockdown induced a dramatic decrease in tetralinoleoyl cardiolipin content, with a concomitant shift toward more saturated cardiolipin species and accumulation of monolysocardiolipins. Ultrastructural abnormalities became evident in skeletal muscle by 2 months of age and in cardiac muscle by 8 months of age. No abnormalities were observed in other tissues. Mitochondrial abnormalities included disruption of mitochondrial architecture with proliferation, vacuolization, and signs of mitophagy. Affected muscle also showed myofibrillar disarray and dilation of mitochondrion- and endoplasmic reticulum-associated vesicles. Taz knockdown led to impaired cardiac function, with dilation and loss of muscle mass in left ventricle and reduced fractional shortening and ejection fraction. Acehan et al. (2011) concluded that continuous cardiolipin deficiency has a progressive and cumulative effect on mitochondrial structures in sarcomeric tissues. </p><p>Independently, Soustek et al. (2011) knocked down Taz expression in mice using inducible shRNAs and reported findings similar to those of Acehan et al. (2011). Soustek et al. (2011) found reduced isometric contractile strength in Taz-knockdown soleus muscle at 2 months of age. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>14 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 BARTH SYNDROME</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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|
TAFAZZIN, IVS2AS, G-A, -1
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<br />
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|
|
SNP: rs1603377590,
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|
|
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|
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|
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ClinVar: RCV000011849
|
|
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|
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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 patient GW with Barth syndrome (BTHS; 302060), Bione et al. (1996) demonstrated a G-to-A transition at position -1 at the 3-prime end of intron 2 of the 4.5 gene (nucleotide position 527-1 of their cDNA). As a G is the base immediately 3-prime to the mutation (in exon 3), the AG splice site was reconstituted, with a 1-bp shift. Consequently, RT-PCR analysis showed a normal-sized band. Direct sequencing of the gel-purified band, however, demonstrated a 1-base deletion in cDNA, which introduced a stop codon 3 residues after the splice junction. See also 300394.0003. </p>
|
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</span>
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</div>
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<div>
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|
<br />
|
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 BARTH SYNDROME</strong>
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</span>
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|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
TAFAZZIN, TYR51TER
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<br />
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SNP: rs104894941,
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ClinVar: RCV000011850, RCV001091834
|
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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 the family with Barth syndrome (BTHS; 302060) first reported by Barth et al. (1983), Bolhuis et al. (1991) demonstrated linkage to Xq28. In affected members of the family, Bione et al. (1996) identified a C-to-G transversion at nucleotide position 441 of the G4.5 gene, resulting in a tyr51-to-ter (Y51X) substitution. The mutation was located in the second exon. Barth et al. (2004) provided an update on the pedigree. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BARTH SYNDROME</strong>
|
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</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
TAFAZZIN, IVS2AS, G-C, -1
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<br />
|
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|
|
SNP: rs1603377590,
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|
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|
|
ClinVar: RCV000011851
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
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<div>
|
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<span class="mim-text-font">
|
|
<p>In patient K with Barth syndrome (BTHS; 302060), Bione et al. (1996) demonstrated a G-to-C transversion in the last nucleotide of intron 2 (cDNA nucleotide 527-1) of the G4.5 gene. Thus, this mutation has, as in patient GW (300394.0001), affected the 3-prime splice signal. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
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|
TAFAZZIN, 1-BP INS, NT868
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<br />
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|
SNP: rs2148211636,
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|
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ClinVar: RCV000011852
|
|
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|
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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 patient OAT with Barth syndrome (BTHS; 302060), previously reported by Ades et al. (1993), Bione et al. (1996) identified a 1-bp insertion at nucleotide 868 in exon 7 of the G4.5 gene, introducing a frameshift and stop codon after 201 amino acids. </p>
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
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|
<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, 1-BP DEL
|
|
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|
<br />
|
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|
|
SNP: rs2148212610,
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|
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|
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ClinVar: RCV000011853
|
|
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|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Australian family in which males died in early infancy from congenital dilated cardiomyopathy (BTHS; 302060), originally reported by Gedeon et al. (1995), D'Adamo et al. (1997) identified a 1-bp deletion in exon 8 of the G4.5 gene, causing a frameshift and resulting in a stop codon after 18 nucleotides. The mutation caused knockout of all the putative tafazzins. The severe clinical manifestations of the disorder (described in 6 affected males and in 8 males suspected of being affected) could thus be related to the severity of the mutation. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, GLY197ARG
|
|
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|
|
<br />
|
|
|
|
SNP: rs132630277,
|
|
|
|
|
|
|
|
ClinVar: RCV000011854, RCV003226156, RCV003333950
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Utah family, Bleyl et al. (1997) observed 6 males with neonatal onset of left ventricular failure and arrhythmias associated with the pathognomonic echocardiographic findings of isolated left ventricular noncompaction (LVNC; see 302060). Neutropenia was seen in 2 patients, and another patient had muscle weakness. Genetic linkage analysis localized the causative gene to Xq28. Bleyl et al. (1997) screened the G4.5 gene with SSCP and direct sequencing revealed a G-A transition in exon 8, resulting in a gly197-to-arg (G197R) substitution at a highly conserved residue. The mutation segregated with LVNC in the family and was not found in 300 unrelated females. </p><p>In a male infant who died of Barth syndrome (BTHS; 302060) at 14 months of age, D'Adamo et al. (1997) identified the G197R mutation in the G4.5 gene. The patient exhibited dilated cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. </p><p>In a boy with Barth syndrome, previously studied at 6.5 years of age by Christodoulou et al. (1994), Johnston et al. (1997) identified the 877G-A transition in exon 8 of the G4.5 gene, resulting in the G197R substitution. The patient presented at 3 months of age with congestive heart failure, and had recurrent episodes of neutropenia. At 6.5 years of age, his height, weight, and head circumference were all below the 3rd centile, and he had a myopathic facial appearance and a nasal quality to his speech. Echocardiography showed moderate cardiac enlargement with left ventricular dilation but no outflow obstruction. Muscle bulk, power, and tone were decreased and he had a waddling gait. </p><p>In 2 families with Barth syndrome, Cantlay et al. (1999) identified the G197R mutation in the G4.5 gene. One family presented a history of 5 boys over 2 generations who died from cardiomyopathy between 4 to 6 months of age. The mutation was detected in the proband's unaffected sister, mother, and a maternal aunt. In the other family, the proband presented at 6 months of age with dilated cardiomyopathy and was found to have failure to thrive, skeletal myopathy, intermittent neutropenia and elevated urinary 3-methylglutaconic acid. He underwent cardiac transplantation at 11 months of age, and he died at age 7 years of T-cell non-Hodgkin lymphoma. His mother and maternal grandmother also carried the mutation. Steward et al. (2010) studied a distant branch of the latter family, in which a known carrier of the G197R mutation gave birth to a male infant who died at 1 week of age due to cardiac decompensation triggered by ventricular arrhythmias. Disease expression in this family was variable: a cousin with BTHS was well until he fell behind on motor milestones at 1 year of age, developed feeding problems and lethargy at 2.5 years, was diagnosed with CMD at 3.5 years, and required cardiac transplantation several months later. Another cousin was only diagnosed with BTHS after the disease was identified in his younger brother, who developed CMD at 3 months of age, without neutropenia; when diagnosed at 3.5 years of age, the older brother's only sign was proximal myopathy. </p><p>In 2 brothers with Barth syndrome and their affected cousin, and another unrelated BTHS patient, Hastings et al. (2009) identified the G197R mutation in the TAZ gene. The 4 patients exhibited a characteristic facial appearance that was most evident in infancy and included a tall and broad forehead, round face with prominent chin and full cheeks, large ears, and deep-set eyes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, IVS1DS, G-C, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2148185111,
|
|
|
|
|
|
|
|
ClinVar: RCV000011855
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the proband from pedigree 2 of Kelley et al. (1991) with Barth syndrome (BTHS; 302060), Johnston et al. (1997) demonstrated a G-to-C transversion at nucleotide 5 in intron 1 of the G4.5 gene. The mutation disrupted proper processing of the transcript. The proband presented with congestive heart failure at 4 months of age and was found to have biventricular dilated hypertrophy. Electromyography showed changes consistent with myopathy, and metabolic studies showed mild lactic acidosis and increased urinary levels of lactate, fumarate, 3-methylglutarate, and 3-methylglutaconate. At 2 years of age, he had a low absolute neutrophil count but no unusual bacterial infections. Cognitive development was normal, whereas growth was below the third percentile, and proximal and distal muscle weakness persisted. The proband had 2 maternal uncles who had died of 'massive cardiac enlargement' at 8 months and 11 months of age, respectively, and a third uncle had hypotonia, weakness, exercise intolerance, and impaired growth during childhood and early adolescence. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, IVS3DS, G-A, +110
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603377747,
|
|
|
|
|
|
|
|
ClinVar: RCV000011856
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Sakamoto et al. (2001) found an unusual intronic mutation of the TAZ gene in a Japanese patient with Barth syndrome (BTHS; 302060). RT-PCR showed aberrant splicing and elongation of exon 3 because of insertion of 106 bases between exons 3 and 4. Genomic DNA showed an intronic mutation 4 bases downstream from the new cleavage site. The mutation, IVS3+110G-A, created a novel 5-prime splice site that showed GC but not GT, and the additional splice site was used preferentially over the upstream authentic splice site. The patient's development was delayed and at the age of 4 years cardiomyopathy was diagnosed. At age 9 years, his neutrophil count was abnormally low. Electrocardiographic changes consisted of ST-T wave depressions. Increased urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and ethylhydracrylic acid was found. Death occurred suddenly at the age of 10 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, CYS118ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894937,
|
|
|
|
|
|
|
|
ClinVar: RCV000011857
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-month-old male infant with ventricular noncompaction associated with a dilated, mildly hypertrophic heart, with poor systolic function on echocardiogram and clinical heart failure, who also had neutropenia and 3-methylglutaconic aciduria (BTHS; 302060), Ichida et al. (2001) identified a 352T-C transition in the TAZ gene, resulting in a cys118-to-arg (C118R) substitution. The unaffected mother was heterozygous for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, IVS1AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603376833,
|
|
|
|
|
|
|
|
ClinVar: RCV000011858
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ichida et al. (2001) identified a splice acceptor site mutation in exon 2 of the TAZ gene (398-2A-G) resulting in phenotypes ranging from classic Barth syndrome (BTHS; 302060) to fatal infantile dilated cardiomyopathy to late-onset symptomatic and asymptomatic dilated cardiomyopathy. Six males in 5 separate sibships related as first cousins and connected through carrier females were affected in this family. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, ARG94SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894942,
|
|
|
|
|
|
|
|
ClinVar: RCV000011859
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with Barth syndrome (BTHS; 302060) who had cardiomyopathy associated with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria, Sakamoto et al. (2002) identified an arg94-to-ser (R94S) missense mutation in the TAZ gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, 4-BP DEL, AGTG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1603381671,
|
|
|
|
|
|
|
|
ClinVar: RCV000011860
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old boy with Barth syndrome (BTHS; 302060), Marziliano et al. (2007) identified a 4-bp deletion in exon 8 of the TAZ gene inherited from his unaffected mother. The boy had left ventricular noncompaction and dilated cardiomyopathy, which was detected at 3 months, skeletal myopathy, recurrent oral aphthous ulcers, and cyclic neutropenia. Left ventricular function progressively improved since age 5 years and became subclinical and normal; he presented at age 11 with recurrent ulcers and signs of myopathy. A peripheral blood sample from the patient showed TAZ expression that was not significantly lower compared to controls, but myocardial TAZ expression in an endomyocardial biopsy performed on the proband at 6 months of age was significantly lower compared to age-matched controls. TAZ expression declined with age in controls as well, suggesting that tafazzin is essential during fetal and early postnatal life. The proband also carried a heterozygous mutation in the LDB3 gene (605906), which is associated with left ventricular noncompaction. The patient's father and brother also carried the LDB3 mutation and had evidence of left ventricular trabeculation without dysfunction. The significance of the LDB3 mutation was unclear. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 BARTH SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TAFAZZIN, IVS8AS, G-C, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776741,
|
|
|
|
|
|
|
|
ClinVar: RCV000011861
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
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<p>In a large Japanese family with a history of unexplained male infant deaths over 4 generations, in which the proband and a distant male relative presented at 2 months and 3 months of age, respectively, with heart failure and left ventricular noncompaction (BTHS; 302060), Chen et al. (2002) identified a -1G-C transversion in IVS8 of the TAZ gene. RT-PCR analysis of RNA from a heterozygous carrier confirmed that the mutation abolishes splicing at the intron 8 splice acceptor sequence, resulting in skipping of exon 9. The mutation was not found in 100 Japanese or 100 Caucasian controls. </p>
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</span>
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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>.0014 BARTH SYNDROME</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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TAFAZZIN, GLY240ARG
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<br />
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SNP: rs387907218,
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ClinVar: RCV000029171, RCV000283338
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated families in which multiple males had died in infancy with dilated cardiomyopathy (BTHS; 302060), D'Adamo et al. (1997) identified a 1006G-A transition in exon 10 of the TAZ gene, resulting in a gly240-to-arg (G240R) substitution. In 1 of the families, which had originally been reported by Lindenbaum et al. (1973) as having endocardial fibroelastosis, the G240R mutation was detected in 3 obligate carriers. In the other family, in which 3 affected males had died of cardiac failure in infancy and were diagnosed with endocardial fibroelastosis at autopsy, the mutation was detected in all affected individuals and in the proband's mother. The mutation was not found in 100 normal chromosomes. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Barth et al. (1981)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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Acehan, D., Vaz, F., Houtkooper, R. H., James, J., Moore, V., Tokunaga, C., Kulik, W., Wansapura, J., Toth, M. J., Strauss, A., Khuchua, Z.
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<strong>Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.</strong>
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J. Biol. Chem. 286: 899-908, 2011.
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Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M., Partington, M. W., Mulley, J. C., Nelson, J., Lui, K., Sillence, D. O.
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<strong>Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.</strong>
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Barth, P. G., Scholte, J. A., Berden, J. A., Van der Klei-Van Moorsel, J. M., Luyt-Houwen, I. E. M., Van't Veer-Korthof, E. T., Van der Harten, J. J., Sobotka-Plojhar, M. A.
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Barth, P. G., Van't Veer-Korthof, E. T., Van Delden, L., Van Dam, K., Van der Harten, J. J., Kuipers, J. R. G.
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<strong>An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. In: Busch, H. F. M.; Jennekens, F. G. I.; Schotte, H. R. (eds.): Mitochondria and Muscular Diseases.</strong>
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Beetsterzwaag, The Netherlands: Mefar (pub.) 1981. Pp. 161-164.
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<strong>A novel X-linked gene, G4.5, is responsible for Barth syndrome.</strong>
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Bleyl, S. B., Mumford, B. R., Thompson, V., Carey, J. C., Pysher, T. J., Chin, T. K., Ward, K.
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Christodoulou, J., McInnes, R. R., Jay, V., Wilson, G., Becker, L. E., Lehotay, D. C., Platt, B.-A., Bridge, P. J., Robinson, B. H., Clarke, J. T.
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D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Orstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A., Toniolo, D.
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<strong>The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.</strong>
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Houtkooper, R. H., Turkenburg, M., Poll-The, B. T., Karall, D., Perez-Cerda, C., Morrone, A., Malvagia, S., Wanders, R. J., Kulik, W., Vaz, F. M.
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Ichida, F., Tsubata, S., Bowles, K. R., Haneda, N., Uese, K., Miyawaki, T., Dreyer, W. J., Messina, J., Li, H., Bowles, N. E., Towbin, J. A.
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Lindenbaum, R. H., Andrews, P. S., Khan, A. S. S. I.
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<strong>Two cases of endocardial fibroelastosis--possible X-linked determination.</strong>
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Brit. Heart J. 35: 38-39, 1973.
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Marziliano, N., Mannarino, S., Nespoli, L., Diegoli, M., Pasotti, M., Malattia, C., Grasso, M., Pilotto, A., Porcu, E., Raisaro, A., Raineri, C., Dore, R., Maggio, P. P., Brega, A., Arbustini, E.
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<strong>Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.</strong>
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Sakamoto, O., Kitoh, T., Ohura, T., Ohya, N., Iinuma, K.
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<strong>Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome.</strong>
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<strong>A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5-prime splice donor site with variant GC consensus and elongation of the upstream exon.</strong>
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Sessions, O. M., Barrows, N. J., Souza-Neto, J. A., Robinson, T. J., Hershey, C. L., Rodgers, M. A., Ramirez, J. L., Dimopoulos, G., Yang, P. L., Pearson, J. L., Garcia-Blanco, M. A.
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<strong>Characterization of a transgenic short hairpin RNA-induced murine model of tafazzin deficiency.</strong>
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Steward, C. G., Newbury-Ecob, R. A., Hastings, R., Smithson, S. F., Tsai-Goodman, B., Quarrell, O. W., Kulik, W., Wanders, R., Pennock, M., Williams, M., Cresswell, J. L., Gonzalez, I. L., Brennan, P.
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<strong>Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.</strong>
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Xu, Y., Condell, M., Plesken, H., Edelman-Novemsky, I., Ma, J., Ren, M., Schlame, M.
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<strong>A Drosophila model of Barth syndrome.</strong>
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Proc. Nat. Acad. Sci. 103: 11584-11588, 2006.
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[PubMed: 16855048]
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[Full Text: https://doi.org/10.1073/pnas.0603242103]
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Marla J. F. O'Neill - updated : 7/17/2012<br>Patricia A. Hartz - updated : 2/23/2012<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Ada Hamosh - updated : 5/14/2009<br>Ada Hamosh - updated : 5/11/2009<br>Marla J. F. O'Neill - updated : 4/29/2009<br>Cassandra L. Kniffin - updated : 7/17/2007<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Victor A. McKusick - updated : 5/11/2004<br>Victor A. McKusick - updated : 6/12/2002
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Cassandra L. Kniffin : 5/9/2002
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