4276 lines
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Entry
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- *605880 - LYSINE ACETYLTRANSFERASE 6B; KAT6B
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- OMIM
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<p>
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<span class="h4">*605880</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605880">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div 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=ENSG00000156650;t=ENST00000287239" 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=23522" 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=605880" 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 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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</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=ENSG00000156650;t=ENST00000287239" 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_001256468,NM_001256469,NM_001370132,NM_001370133,NM_001370134,NM_001370135,NM_001370136,NM_001370137,NM_001370138,NM_001370139,NM_001370140,NM_001370141,NM_001370142,NM_001370143,NM_001370144,NM_012330,XM_005269664,XM_017016004,XM_047424911,XM_047424912,XM_047424913,XM_047424915,XM_047424916,XM_047424917,XM_047424918,XM_047424919,XM_047424920,XM_047424921,XM_047424922,XM_047424923,XM_047424924,XM_047424926,XM_047424927,XM_047424928,XM_047424929" 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_012330" 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=605880" 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=07065&isoform_id=07065_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/KAT6B" 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/6002686,6002694,6002696,18032212,18088924,20521021,29387208,33874216,50949437,100816397,119574942,119574943,119574944,143811424,152012887,187957110,374349205,374349207,530393350,1034567460,1625648999,1625649003,1625649014,1625649024,1625649036,1625649045,1625649047,1625649056,1625649060,1625649075,1625649087,1625649104,1625649119,2217276378,2217276380,2217276383,2217276385,2217276387,2217276389,2217276391,2217276393,2217276395,2217276397,2217276399,2217276401,2217276403,2217276405,2217276407,2217276409,2217276411,2462497479,2462497481,2462497483,2462497485,2462497487,2462497489,2462497491,2462497493,2462497495,2462497497,2462497499,2462497501,2462497503,2462497505,2462497507,2462497509,2462497511,2462497513,2462497515,2462518135,2462518137,2462518139,2462518141,2462518143,2462518145,2462518147,2462518149,2462518151,2462518153,2462518155,2462518157,2462518159,2462518161,2462518163,2462518165,2462518167,2462518169,2462518171" 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/Q8WYB5" 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=23522" 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=ENSG00000156650;t=ENST00000287239" 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=KAT6B" 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=KAT6B" 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+23522" 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/KAT6B" 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:23522" 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/23522" 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=chr10&hgg_gene=ENST00000287239.10&hgg_start=74824936&hgg_end=75032624&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17582" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17582" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605880[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605880[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/KAT6B/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/ENSG00000156650" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=KAT6B" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=KAT6B" 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=KAT6B" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/KAT6B" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KAT6B&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/PA134880712" 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:17582" 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/FBgn0034975.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:1858746" 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/KAT6B#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:1858746" 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/23522/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=23522" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-000607-52" 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://reactome.org/content/query?q=KAT6B&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> 699298009, 702367005<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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
605880
|
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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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LYSINE ACETYLTRANSFERASE 6B; KAT6B
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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>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HISTONE ACETYLTRANSFERASE MYST4; MYST4<br />
|
|
MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN-RELATED FACTOR; MORF
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
MORF/CBF FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
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|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KAT6B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KAT6B</a></em></strong>
|
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</span>
|
|
</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/10/315?start=-3&limit=10&highlight=315">10q22.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:74824936-75032624&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'})">10:74,824,936-75,032,624</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=606170,603736" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/315?start=-3&limit=10&highlight=315">
|
|
10q22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Genitopatellar syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/606170"> 606170 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#3" class="mim-tip-reference" title="Champagne, N., Bertos, N. R., Pelletier, N., Wang, A. H., Vezmar, M., Yang,Y., Heng, H. H., Yang, X. J. <strong>Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.</strong> J. Biol. Chem. 274: 28528-28536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10497217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10497217</a>] [<a href="https://doi.org/10.1074/jbc.274.40.28528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10497217">Champagne et al. (1999)</a> identified and characterized monocytic leukemia zinc finger protein-related factor (MORF), a novel human histone acetyltransferase. MORF is a 1,781-residue protein that is ubiquitously expressed in adult human tissues. MORF also contains a strong transcriptional repression domain at its N terminus and a highly potent activation domain at its C terminus, and may be involved in both positive and negative regulation of transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10497217" 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 immunohistochemistry on mice of various developmental ages, <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> demonstrated expression of Myst4 in the telencephalic vesicles, trigeminal ganglion, spinal cord, dorsal root ganglia, digestive tract, pancreas, liver, and ribs of developing embryo; after birth, it is strongly expressed in the diaphysis of the long bones, the kidney, and the patella, among other organs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22265014" 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><strong><em>MORF/CBP Fusion Gene</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Panagopoulos, I., Fioretos, T., Isaksson, M., Samuelsson, U., Billstrom, R., Strombeck, B., Mitelman, F., Johansson, B. <strong>Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).</strong> Hum. Molec. Genet. 10: 395-404, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157802</a>] [<a href="https://doi.org/10.1093/hmg/10.4.395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157802">Panagopoulos et al. (2001)</a> reported a novel t(10;16)(q22;p13) chromosomal translocation in a childhood acute myelogenous leukemia (AML-M5a) leading to a MORF-CBP (<a href="/entry/600140">600140</a>) chimera. RT-PCR experiments yielded in-frame MORF-CBP and CBP-MORF fusion transcripts. Genomic analyses revealed that the breaks were close to Alu elements in intron 16 of MORF and intron 2 of CBP and that duplications had occurred near the breakpoints. The authors constructed an exon/intron map of the MORF gene. The MORF-CBP protein retained the zinc fingers, 2 nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MORF, and the CBP protein downstream of codon 29. The part of CBP encoding the RARA-binding domain, the CREB-binding domain, the 3 cys/his-rich regions, the bromodomain, the HAT domain and the glu-rich domains was present. In the reciprocal CBP-MORF, part of the acidic domain, and the C-terminal ser- and met-rich regions of MORF may be driven by the CBP promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Champagne, N., Bertos, N. R., Pelletier, N., Wang, A. H., Vezmar, M., Yang,Y., Heng, H. H., Yang, X. J. <strong>Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.</strong> J. Biol. Chem. 274: 28528-28536, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10497217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10497217</a>] [<a href="https://doi.org/10.1074/jbc.274.40.28528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10497217">Champagne et al. (1999)</a> mapped the MORF gene to chromosome 10q22 by FISH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10497217" 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><strong><em>SBBYSS Syndrome and Genitopatellar Syndrome</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> studied a cohort of 19 individuals with a presumed diagnosis of the Ohdo syndrome SBBYS variant (SBBYSS; <a href="/entry/603736">603736</a>). Twelve individuals were considered to have typical features of the syndrome, 2 had suggestive but milder features, and 5 were classified as atypical. By whole-exome sequencing in 4 individuals with typical features, <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified heterozygous mutations in the KAT6B gene: a nonsense mutation (E1357X; <a href="#0004">605880.0004</a>) in individual 4, a 1-bp duplication (<a href="#0001">605880.0001</a>) in individual 1, and a 4-bp duplication (<a href="#0002">605880.0002</a>) in individual 2. Subsequently, all 19 individuals with an SBBYSS or an SBBYSS-like phenotype were sequenced for the entire KAT6B coding region by classic Sanger sequencing. Truncating mutations in exon 18 of the KAT6B gene were confirmed in 12 individuals, and individual 3 was found to have a heterozygous frameshift mutation in exon 15 (<a href="#0003">605880.0003</a>), which had not been detected on whole-exome sequencing. When parental samples were available, the mutations were shown to have occurred de novo. <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> suggested that mutations of protein-protein interaction domains in exon 18 result in a more complex phenotype than the phenotype due to simple haploinsufficiency of KAT6B and raised the possibility that exon 18 mutations are activating or have a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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 6 patients with genitopatellar syndrome (GTPTS; <a href="/entry/606170">606170</a>), <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified 5 different heterozygous de novo truncating mutations in exon 18 of the KAT6B gene (<a href="#0005">605880.0005</a>-<a href="#0009">605880.0009</a>), all of which were predicted to result in loss of the highly conserved transcription activation domain. <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> noted that SBBYSS, also caused by mutation in KAT6B, is a disorder with features overlapping those of genitopatellar syndrome, but with clinical differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22265014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., Trembath, R. C. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 290-294, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265017[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/10.1016/j.ajhg.2011.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265017">Simpson et al. (2012)</a> identified mutations in the KAT6B gene in 5 unrelated patients with genitopatellar syndrome (see, e.g., <a href="#0006">605880.0006</a> and <a href="#0010">605880.0010</a>); they stated that the form of Ohdo syndrome (SBBYSS) in which mutations in KAT6B had been found is phenotypically distinct from genitopatellar syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22265017" 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 children with clinical features of SBBYSS, including a 4-year-old girl previously reported by <a href="#13" class="mim-tip-reference" title="Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E. <strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong> Am. J. Med. Genet. 155A: 634-637, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>] [<a href="https://doi.org/10.1002/ajmg.a.33837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344633">Szakszon et al. (2011)</a>, <a href="#14" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> identified different de novo truncating mutations in the distal region of exon 18 of the KAT6B gene (<a href="#0011">605880.0011</a>-<a href="#0012">605880.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21344633+23436491" 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="#15" class="mim-tip-reference" title="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> identified a novel heterozygous splicing mutation in intron 5 of the KAT6B gene (<a href="#0013">605880.0013</a>) in affected members of a family with SBBYSS. The mutation was found by exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" 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="#14" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> noted that truncating mutations of KAT6B exon 18 between positions c.3018 and c.3892 had been shown to cause GTPTS, whereas truncating mutations distal to position c.4069 in the same exon cause SBBYSS (with one exception, a c.4360_4368delins mutation in a patient with GTPTS; see <a href="#0005">605880.0005</a>). They stated that their finding of truncating mutations of KAT6B exon 18 at positions c.5064_5071 (<a href="#0011">605880.0011</a>) and c.5389 (<a href="#0012">605880.0012</a>) in patients with SBBYSS confirmed this genotype-phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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="#9" class="mim-tip-reference" title="Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G. <strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong> Clin. Genet. 95: 253-261, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857140</a>] [<a href="https://doi.org/10.1111/cge.13127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857140">Lonardo et al. (2019)</a> reviewed the issue of whether SBBYSS and GTPTS should be considered distinct disorders or variations of the same disorder, given that they are both caused by pathogenic variants in the KAT6B gene. The authors noted that patients with mutations that occur more proximally, which are subject to nonsense-mediated decay (NMD), are more likely to present with a milder SBBYSS phenotype caused by haploinsufficiency. Variants not subject to NMD that affect critical binding sites of KAT6B are more likely to cause a more severe GTPTS phenotype. Variants that occur more distally and escape NMD but do not interfere with critical KAT6B binding sites are more likely to cause the SBBYSS phenotype rather than GTPTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> examined mice carrying a gene trap insertion in the mouse ortholog Kat6b (Qkf/Myst4/Morf) that produces approximately 5% of the normal amount of Kat6b mRNA. The Qkf gt/gt hypomorphic mutant displayed a number of defects that mirror SBBYSS syndrome, although the phenotype in the mice is milder. Mice are of normal size at birth but fail to thrive and have brain developmental defects as well as craniofacial defects. Observed abnormalities include short and narrow palpebral fissures, low set ears, and malocclusion. Qkf mRNA is strongly expressed in the eyelids and teeth primordia during development. Similar to individuals with SBBYSS, the Qkf gt/gt mice have long, slender feet and disproportionately long first digits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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">rs199470479 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470479;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=rs199470479" 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=rs199470479" 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=RCV000023482 OR RCV000128654" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023482, RCV000128654" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023482...</a>
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<p>By whole-exome sequencing in a patient (individual 1) with typical features of SBBYSS (<a href="/entry/603736">603736</a>), previously reported by <a href="#4" class="mim-tip-reference" title="Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., Donnai, D. <strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong> Clin. Dysmorph. 3: 115-120, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8055130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8055130</a>]" pmid="8055130">Clayton-Smith et al. (1994)</a>, <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified a 1-bp duplication at nucleotide 4405 in exon 18 of the KAT6B gene, which resulted in a frameshift (Ser1469PhefsTer18). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8055130+22077973" 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">rs199470483 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470483;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=rs199470483" 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=rs199470483" 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=RCV000023483 OR RCV000128659" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023483, RCV000128659" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023483...</a>
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<p>By whole-exome sequencing in a patient (individual 2) with typical features of SBBYSS (<a href="/entry/603736">603736</a>), <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified a 4-bp duplication at nucleotide 5370 in exon 18 of the KAT6B gene, which resulted in a frameshift (Ile1792GlnfsTer12). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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">rs199470468 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470468;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=rs199470468" 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=rs199470468" 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=RCV000023484 OR RCV000128643" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023484, RCV000128643" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023484...</a>
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<p>By Sanger sequencing in a patient (individual 3) with typical SBBYSS (<a href="/entry/603736">603736</a>), <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified a 1-bp deletion at nucleotide 3018 in exon 15 of the KAT6B gene, which resulted in a frameshift (Glu1007ArgfsTer5). The mutation was not initially detected on whole-exome sequencing. The parents did not have the mutation. The patient also had a 1q21 duplication, which the authors considered to be incidental. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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">rs199470476 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470476;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=rs199470476" 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=rs199470476" 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=RCV000023485 OR RCV000128651" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023485, RCV000128651" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023485...</a>
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<p>By whole-exome sequencing in a patient (individual 4) with typical features of SBBYSS (<a href="/entry/603736">603736</a>), previously described by <a href="#6" class="mim-tip-reference" title="Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J. <strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong> Clin. Genet. 74: 434-444, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798845</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01087.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798845">Day et al. (2008)</a>, <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified a heterozygous 4069G-T transversion in exon 18 of the KAT6B gene, resulting in a glu1357-to-ter (E1357X) substitution. The parents did not have the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22077973+18798845" 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">rs199470478 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470478;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=rs199470478" 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=rs199470478" 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=RCV000023486 OR RCV000128653" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023486, RCV000128653" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023486...</a>
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<p>In a male patient with genitopatellar syndrome (GTPTS; <a href="/entry/606170">606170</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., Hudgins, L. <strong>Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.</strong> Am. J. Med. Genet. 140A: 1567-1572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16761293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16761293</a>] [<a href="https://doi.org/10.1002/ajmg.a.31258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16761293">Abdul-Rahman et al. (2006)</a> ('patient 2'), <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified heterozygosity for a de novo deletion/insertion (4360_4368delinsAAAAACCAAAA) in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain. The mutation was not found in the patient's unaffected parents or in the Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16761293+22265014" 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">rs199470470 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470470;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=rs199470470" 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=rs199470470" 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=RCV000023487 OR RCV000128645 OR RCV001266158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023487, RCV000128645, RCV001266158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023487...</a>
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<p>In an unrelated 7-month-old girl and 3-month-old boy with genitopatellar syndrome (<a href="/entry/606170">606170</a>), <a href="#12" class="mim-tip-reference" title="Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., Trembath, R. C. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 290-294, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265017[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/10.1016/j.ajhg.2011.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265017">Simpson et al. (2012)</a> identified heterozygosity for a 4-bp deletion (3768_3771delTCTA) in the KAT6B gene, resulting in a frameshift and premature termination (Lys1258GlyfsTer13). The mutation was not present in their unaffected parents, in the 1000 Genomes Project, or in 600 control exome profiles. Quantitative assessment of global H3/H4 acetylation of extracted histones in primary skin fibroblasts from the infant girl demonstrated a significant reduction in H3 and H4 acetylation compared to control fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22265017" 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 unrelated male patients with genitopatellar syndrome (<a href="/entry/606170">606170</a>), 1 of whom was originally reported by <a href="#8" class="mim-tip-reference" title="Lifchez, C. A., Rhead, W. J., Leuthner, S. R., Lubinsky, M. S. <strong>Genitopatellar syndrome: expanding the phenotype.</strong> Am. J. Med. Genet. 122A: 80-83, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949978</a>] [<a href="https://doi.org/10.1002/ajmg.a.20268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12949978">Lifchez et al. (2003)</a>, <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified heterozygosity for a de novo 4-bp deletion, which they stated as 3769_3772delTCTA, in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (Lys1258GlyfsTer13). The mutation was not found in the patients' unaffected parents or in the Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22265014+12949978" 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">rs199470472 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470472;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=rs199470472" 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=rs199470472" 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=RCV000023488 OR RCV000128647 OR RCV001267611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023488, RCV000128647, RCV001267611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023488...</a>
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<p>In a female patient with genitopatellar syndrome (<a href="/entry/606170">606170</a>), <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified heterozygosity for a de novo 2-bp deletion (3788_3789delAA) in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (Lys1263ArgfsTer7). The mutation was not found in the patients' unaffected parents or in the Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22265014" 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">rs199470475 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470475;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=rs199470475" 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=rs199470475" 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=RCV000023489 OR RCV000128650" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023489, RCV000128650" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023489...</a>
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<p>In an African American girl with genitopatellar syndrome (<a href="/entry/606170">606170</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., Hudgins, L. <strong>Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.</strong> Am. J. Med. Genet. 140A: 1567-1572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16761293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16761293</a>] [<a href="https://doi.org/10.1002/ajmg.a.31258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16761293">Abdul-Rahman et al. (2006)</a>, <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified heterozygosity for a 3892G-T transversion in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain. DNA from the patient's parents was unavailable; however, the mutation was not found in the Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16761293+22265014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs199470473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470473;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs199470473?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199470473" 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=rs199470473" 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=RCV000023490 OR RCV000128648" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023490, RCV000128648" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023490...</a>
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<p>In a female patient with genitopatellar syndrome (<a href="/entry/606170">606170</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Lammer, E. J., Abrams, L. <strong>Genitopatellar syndrome: delineating the anomalies of female genitalia.</strong> Am. J. Med. Genet. 111: 316-318, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210330</a>] [<a href="https://doi.org/10.1002/ajmg.10582" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210330">Lammer and Abrams (2002)</a>, <a href="#2" class="mim-tip-reference" title="Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others. <strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 282-289, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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/10.1016/j.ajhg.2011.11.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265014">Campeau et al. (2012)</a> identified heterozygosity for a de novo 3802G-T transversion in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (G1268X). The mutation was not found in the patient's unaffected parents or in the Exome Variant Server. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22265014+12210330" 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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KAT6B, 16-BP DEL, NT3680
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs199470469 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470469;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=rs199470469" 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=rs199470469" 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=RCV000023491 OR RCV000128644" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023491, RCV000128644" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023491...</a>
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<p>In a female patient with genitopatellar syndrome (<a href="/entry/606170">606170</a>), originally reported by <a href="#11" class="mim-tip-reference" title="Reardon, W. <strong>Genitopatellar syndrome: a recognizable phenotype.</strong> Am. J. Med. Genet. 111: 313-315, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210329</a>] [<a href="https://doi.org/10.1002/ajmg.10590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210329">Reardon (2002)</a>, <a href="#12" class="mim-tip-reference" title="Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., Trembath, R. C. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.</strong> Am. J. Hum. Genet. 90: 290-294, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265017[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/10.1016/j.ajhg.2011.11.024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22265017">Simpson et al. (2012)</a> identified heterozygosity for a de novo 16-bp deletion (3680_3695del) in exon 18 of the KAT6B gene, resulting in a frameshift (Asp1227GlufsTer11). The mutation was not found in her unaffected parents, in the 1000 Genomes Project, or in 600 control exome profiles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22265017+12210329" 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 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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">rs387907364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907364;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=rs387907364" 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=rs387907364" 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=RCV000043511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043511</a>
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<p>In a child of Sicilian ancestry with SBBYSS (<a href="/entry/603736">603736</a>), <a href="#14" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> identified a heterozygous, de novo, complex insertion/deletion mutation, c.5064_5071delTACTATGGinsCACA, in exon 18 of the KAT6B gene, leading to a net loss of 4 bp, a frameshift, and a premature stop codon (Met1690GlufsTer24). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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">rs199470484 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199470484;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=rs199470484" 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=rs199470484" 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=RCV000043512 OR RCV000128660 OR RCV001380964 OR RCV004786317" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043512, RCV000128660, RCV001380964, RCV004786317" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043512...</a>
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<p>By Sanger sequencing in a patient (individual 13) with typical SBBYSS (<a href="/entry/603736">603736</a>), <a href="#5" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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/10.1016/j.ajhg.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified a heterozygous de novo c.5389C-T transition in exon 18 of the KAT6B gene, resulting in an arg1797-to-ter (R1797X) substitution. The parents did not have the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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 child of Hungarian ancestry with typical SBBYSS, previously reported by <a href="#13" class="mim-tip-reference" title="Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E. <strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong> Am. J. Med. Genet. 155A: 634-637, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>] [<a href="https://doi.org/10.1002/ajmg.a.33837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344633">Szakszon et al. (2011)</a>, <a href="#14" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> identified de novo heterozygosity for the same R2797X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21344633+23436491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME</strong>
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KAT6B, IVS5AS, 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">rs1841745686 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1841745686;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=rs1841745686" 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=rs1841745686" 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=RCV001254592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001254592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001254592</a>
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<p>By exome sequencing in affected members of a family with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; <a href="/entry/603736">603736</a>), <a href="#15" class="mim-tip-reference" title="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> identified a heterozygous splice site mutation (c.847-2A-G) in intron 5 of the KAT6B gene, predicted to disrupt the exon 6 splice acceptor site. The finding was confirmed in the family by Sanger sequencing. The patients had a milder dysmorphic and impaired intellectual development phenotype than typically seen in SBBYSS. <a href="#15" class="mim-tip-reference" title="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> proposed that proximal pathogenic variants, which are more likely to result in nonsense-mediated decay (NMD), may be associated with a milder phenotype than distal pathogenic variants, which escape NMD and result in a more severe phenotype. The authors also noted variability of the phenotype within the family, which they suggested could be attributable to leaky splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Abdul-Rahman2006" class="mim-anchor"></a>
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Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., Hudgins, L.
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<strong>Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.</strong>
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Am. J. Med. Genet. 140A: 1567-1572, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16761293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16761293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16761293" 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.31258" target="_blank">Full Text</a>]
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Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others.
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<strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong>
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Am. J. Hum. Genet. 90: 282-289, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265014[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=22265014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.11.023" target="_blank">Full Text</a>]
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<a id="Champagne1999" class="mim-anchor"></a>
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Champagne, N., Bertos, N. R., Pelletier, N., Wang, A. H., Vezmar, M., Yang,Y., Heng, H. H., Yang, X. J.
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<strong>Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.</strong>
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J. Biol. Chem. 274: 28528-28536, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10497217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10497217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10497217" 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.274.40.28528" target="_blank">Full Text</a>]
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Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., Donnai, D.
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<strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong>
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Clin. Dysmorph. 3: 115-120, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8055130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8055130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8055130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others.
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<strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong>
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Am. J. Hum. Genet. 89: 675-681, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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=22077973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.10.008" target="_blank">Full Text</a>]
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Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J.
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<strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong>
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Clin. Genet. 74: 434-444, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.01087.x" target="_blank">Full Text</a>]
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Lammer, E. J., Abrams, L.
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<strong>Genitopatellar syndrome: delineating the anomalies of female genitalia.</strong>
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Am. J. Med. Genet. 111: 316-318, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210330" 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.10582" target="_blank">Full Text</a>]
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Lifchez, C. A., Rhead, W. J., Leuthner, S. R., Lubinsky, M. S.
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<strong>Genitopatellar syndrome: expanding the phenotype.</strong>
|
|
Am. J. Med. Genet. 122A: 80-83, 2003.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12949978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12949978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12949978" 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.20268" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Lonardo2019" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.
|
|
<strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong>
|
|
Clin. Genet. 95: 253-261, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13127" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Panagopoulos2001" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Panagopoulos, I., Fioretos, T., Isaksson, M., Samuelsson, U., Billstrom, R., Strombeck, B., Mitelman, F., Johansson, B.
|
|
<strong>Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).</strong>
|
|
Hum. Molec. Genet. 10: 395-404, 2001.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/10.4.395" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Reardon2002" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Reardon, W.
|
|
<strong>Genitopatellar syndrome: a recognizable phenotype.</strong>
|
|
Am. J. Med. Genet. 111: 313-315, 2002.
|
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210329" 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.10590" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Simpson2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., Trembath, R. C.
|
|
<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 290-294, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22265017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22265017</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22265017[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=22265017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.11.024" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Szakszon2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E.
|
|
<strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong>
|
|
Am. J. Med. Genet. 155A: 634-637, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21344633" 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.33837" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Szakszon2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G.
|
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<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong>
|
|
Am. J. Med. Genet. 161A: 884-888, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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.35848" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Yates2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S.
|
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<strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong>
|
|
Clin. Genet. 95: 334-335, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13456" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 08/18/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 1/7/2015<br>Nara Sobreira - updated : 5/14/2013<br>Marla J. F. O'Neill - updated : 4/10/2012<br>Nara Sobreira - updated : 12/13/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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George E. Tiller : 4/26/2001
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/18/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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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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carol : 01/16/2015<br>carol : 1/16/2015<br>carol : 1/12/2015<br>carol : 1/7/2015<br>carol : 1/7/2015<br>carol : 8/29/2013<br>carol : 5/14/2013<br>carol : 4/24/2012<br>carol : 4/10/2012<br>terry : 4/10/2012<br>carol : 12/13/2011<br>carol : 12/12/2011<br>mgross : 2/21/2006<br>cwells : 5/2/2001<br>cwells : 4/26/2001
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605880
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
|
LYSINE ACETYLTRANSFERASE 6B; KAT6B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
HISTONE ACETYLTRANSFERASE MYST4; MYST4<br />
|
|
MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN-RELATED FACTOR; MORF
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
MORF/CBF FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: KAT6B</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 699298009, 702367005;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 10q22.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 10:74,824,936-75,032,624 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
10q22.2
|
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</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Genitopatellar syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606170
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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|
|
|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
SBBYSS syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603736
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Champagne et al. (1999) identified and characterized monocytic leukemia zinc finger protein-related factor (MORF), a novel human histone acetyltransferase. MORF is a 1,781-residue protein that is ubiquitously expressed in adult human tissues. MORF also contains a strong transcriptional repression domain at its N terminus and a highly potent activation domain at its C terminus, and may be involved in both positive and negative regulation of transcription. </p><p>Using immunohistochemistry on mice of various developmental ages, Campeau et al. (2012) demonstrated expression of Myst4 in the telencephalic vesicles, trigeminal ganglion, spinal cord, dorsal root ganglia, digestive tract, pancreas, liver, and ribs of developing embryo; after birth, it is strongly expressed in the diaphysis of the long bones, the kidney, and the patella, among other organs. </p><p><strong><em>MORF/CBP Fusion Gene</em></strong></p><p>
|
|
Panagopoulos et al. (2001) reported a novel t(10;16)(q22;p13) chromosomal translocation in a childhood acute myelogenous leukemia (AML-M5a) leading to a MORF-CBP (600140) chimera. RT-PCR experiments yielded in-frame MORF-CBP and CBP-MORF fusion transcripts. Genomic analyses revealed that the breaks were close to Alu elements in intron 16 of MORF and intron 2 of CBP and that duplications had occurred near the breakpoints. The authors constructed an exon/intron map of the MORF gene. The MORF-CBP protein retained the zinc fingers, 2 nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MORF, and the CBP protein downstream of codon 29. The part of CBP encoding the RARA-binding domain, the CREB-binding domain, the 3 cys/his-rich regions, the bromodomain, the HAT domain and the glu-rich domains was present. In the reciprocal CBP-MORF, part of the acidic domain, and the C-terminal ser- and met-rich regions of MORF may be driven by the CBP promoter. </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>Champagne et al. (1999) mapped the MORF gene to chromosome 10q22 by FISH. </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><strong><em>SBBYSS Syndrome and Genitopatellar Syndrome</em></strong></p><p>
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|
Clayton-Smith et al. (2011) studied a cohort of 19 individuals with a presumed diagnosis of the Ohdo syndrome SBBYS variant (SBBYSS; 603736). Twelve individuals were considered to have typical features of the syndrome, 2 had suggestive but milder features, and 5 were classified as atypical. By whole-exome sequencing in 4 individuals with typical features, Clayton-Smith et al. (2011) identified heterozygous mutations in the KAT6B gene: a nonsense mutation (E1357X; 605880.0004) in individual 4, a 1-bp duplication (605880.0001) in individual 1, and a 4-bp duplication (605880.0002) in individual 2. Subsequently, all 19 individuals with an SBBYSS or an SBBYSS-like phenotype were sequenced for the entire KAT6B coding region by classic Sanger sequencing. Truncating mutations in exon 18 of the KAT6B gene were confirmed in 12 individuals, and individual 3 was found to have a heterozygous frameshift mutation in exon 15 (605880.0003), which had not been detected on whole-exome sequencing. When parental samples were available, the mutations were shown to have occurred de novo. Clayton-Smith et al. (2011) suggested that mutations of protein-protein interaction domains in exon 18 result in a more complex phenotype than the phenotype due to simple haploinsufficiency of KAT6B and raised the possibility that exon 18 mutations are activating or have a dominant-negative effect. </p><p>In 6 patients with genitopatellar syndrome (GTPTS; 606170), Campeau et al. (2012) identified 5 different heterozygous de novo truncating mutations in exon 18 of the KAT6B gene (605880.0005-605880.0009), all of which were predicted to result in loss of the highly conserved transcription activation domain. Campeau et al. (2012) noted that SBBYSS, also caused by mutation in KAT6B, is a disorder with features overlapping those of genitopatellar syndrome, but with clinical differences. </p><p>Simpson et al. (2012) identified mutations in the KAT6B gene in 5 unrelated patients with genitopatellar syndrome (see, e.g., 605880.0006 and 605880.0010); they stated that the form of Ohdo syndrome (SBBYSS) in which mutations in KAT6B had been found is phenotypically distinct from genitopatellar syndrome. </p><p>In 2 children with clinical features of SBBYSS, including a 4-year-old girl previously reported by Szakszon et al. (2011), Szakszon et al. (2013) identified different de novo truncating mutations in the distal region of exon 18 of the KAT6B gene (605880.0011-605880.0012). </p><p>Yates et al. (2019) identified a novel heterozygous splicing mutation in intron 5 of the KAT6B gene (605880.0013) in affected members of a family with SBBYSS. The mutation was found by exome sequencing and confirmed by Sanger sequencing. </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">
|
|
<strong>Genotype/Phenotype Correlations</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>Szakszon et al. (2013) noted that truncating mutations of KAT6B exon 18 between positions c.3018 and c.3892 had been shown to cause GTPTS, whereas truncating mutations distal to position c.4069 in the same exon cause SBBYSS (with one exception, a c.4360_4368delins mutation in a patient with GTPTS; see 605880.0005). They stated that their finding of truncating mutations of KAT6B exon 18 at positions c.5064_5071 (605880.0011) and c.5389 (605880.0012) in patients with SBBYSS confirmed this genotype-phenotype correlation. </p><p>Lonardo et al. (2019) reviewed the issue of whether SBBYSS and GTPTS should be considered distinct disorders or variations of the same disorder, given that they are both caused by pathogenic variants in the KAT6B gene. The authors noted that patients with mutations that occur more proximally, which are subject to nonsense-mediated decay (NMD), are more likely to present with a milder SBBYSS phenotype caused by haploinsufficiency. Variants not subject to NMD that affect critical binding sites of KAT6B are more likely to cause a more severe GTPTS phenotype. Variants that occur more distally and escape NMD but do not interfere with critical KAT6B binding sites are more likely to cause the SBBYSS phenotype rather than GTPTS. </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">
|
|
<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>Clayton-Smith et al. (2011) examined mice carrying a gene trap insertion in the mouse ortholog Kat6b (Qkf/Myst4/Morf) that produces approximately 5% of the normal amount of Kat6b mRNA. The Qkf gt/gt hypomorphic mutant displayed a number of defects that mirror SBBYSS syndrome, although the phenotype in the mice is milder. Mice are of normal size at birth but fail to thrive and have brain developmental defects as well as craniofacial defects. Observed abnormalities include short and narrow palpebral fissures, low set ears, and malocclusion. Qkf mRNA is strongly expressed in the eyelids and teeth primordia during development. Similar to individuals with SBBYSS, the Qkf gt/gt mice have long, slender feet and disproportionately long first digits. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
|
<strong>13 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>
|
|
<span class="mim-font">
|
|
<strong>.0001 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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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|
KAT6B, 1-BP DUP, NT4405
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|
<br />
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|
|
SNP: rs199470479,
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|
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ClinVar: RCV000023482, RCV000128654
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a patient (individual 1) with typical features of SBBYSS (603736), previously reported by Clayton-Smith et al. (1994), Clayton-Smith et al. (2011) identified a 1-bp duplication at nucleotide 4405 in exon 18 of the KAT6B gene, which resulted in a frameshift (Ser1469PhefsTer18). </p>
|
|
</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, 4-BP DUP, NT5370
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|
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|
|
|
<br />
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|
|
|
SNP: rs199470483,
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|
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|
|
|
|
|
ClinVar: RCV000023483, RCV000128659
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a patient (individual 2) with typical features of SBBYSS (603736), Clayton-Smith et al. (2011) identified a 4-bp duplication at nucleotide 5370 in exon 18 of the KAT6B gene, which resulted in a frameshift (Ile1792GlnfsTer12). </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, 1-BP DEL, NT3018
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs199470468,
|
|
|
|
|
|
|
|
ClinVar: RCV000023484, RCV000128643
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By Sanger sequencing in a patient (individual 3) with typical SBBYSS (603736), Clayton-Smith et al. (2011) identified a 1-bp deletion at nucleotide 3018 in exon 15 of the KAT6B gene, which resulted in a frameshift (Glu1007ArgfsTer5). The mutation was not initially detected on whole-exome sequencing. The parents did not have the mutation. The patient also had a 1q21 duplication, which the authors considered to be incidental. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, GLU1357TER
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|
|
|
|
|
<br />
|
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|
|
SNP: rs199470476,
|
|
|
|
|
|
|
|
ClinVar: RCV000023485, RCV000128651
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By whole-exome sequencing in a patient (individual 4) with typical features of SBBYSS (603736), previously described by Day et al. (2008), Clayton-Smith et al. (2011) identified a heterozygous 4069G-T transversion in exon 18 of the KAT6B gene, resulting in a glu1357-to-ter (E1357X) substitution. The parents did not have 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>.0005 GENITOPATELLAR SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, DEL/INS, NT4360
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199470478,
|
|
|
|
|
|
|
|
ClinVar: RCV000023486, RCV000128653
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with genitopatellar syndrome (GTPTS; 606170), originally reported by Abdul-Rahman et al. (2006) ('patient 2'), Campeau et al. (2012) identified heterozygosity for a de novo deletion/insertion (4360_4368delinsAAAAACCAAAA) in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain. The mutation was not found in the patient's unaffected parents or in the Exome Variant Server. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GENITOPATELLAR SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, 4-BP DEL, 3768TCTA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199470470,
|
|
|
|
|
|
|
|
ClinVar: RCV000023487, RCV000128645, RCV001266158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an unrelated 7-month-old girl and 3-month-old boy with genitopatellar syndrome (606170), Simpson et al. (2012) identified heterozygosity for a 4-bp deletion (3768_3771delTCTA) in the KAT6B gene, resulting in a frameshift and premature termination (Lys1258GlyfsTer13). The mutation was not present in their unaffected parents, in the 1000 Genomes Project, or in 600 control exome profiles. Quantitative assessment of global H3/H4 acetylation of extracted histones in primary skin fibroblasts from the infant girl demonstrated a significant reduction in H3 and H4 acetylation compared to control fibroblasts. </p><p>In 2 unrelated male patients with genitopatellar syndrome (606170), 1 of whom was originally reported by Lifchez et al. (2003), Campeau et al. (2012) identified heterozygosity for a de novo 4-bp deletion, which they stated as 3769_3772delTCTA, in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (Lys1258GlyfsTer13). The mutation was not found in the patients' unaffected parents or in the Exome Variant Server. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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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>.0007 GENITOPATELLAR SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
|
KAT6B, 2-BP DEL, 3788AA
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|
|
<br />
|
|
|
|
SNP: rs199470472,
|
|
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|
|
|
|
|
ClinVar: RCV000023488, RCV000128647, RCV001267611
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient with genitopatellar syndrome (606170), Campeau et al. (2012) identified heterozygosity for a de novo 2-bp deletion (3788_3789delAA) in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (Lys1263ArgfsTer7). The mutation was not found in the patients' unaffected parents or in the Exome Variant Server. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GENITOPATELLAR SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
KAT6B, GLY1298TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199470475,
|
|
|
|
|
|
|
|
ClinVar: RCV000023489, RCV000128650
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an African American girl with genitopatellar syndrome (606170), originally reported by Abdul-Rahman et al. (2006), Campeau et al. (2012) identified heterozygosity for a 3892G-T transversion in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain. DNA from the patient's parents was unavailable; however, the mutation was not found in the Exome Variant Server. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GENITOPATELLAR SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
|
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KAT6B, GLY1268TER
|
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<br />
|
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|
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SNP: rs199470473,
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|
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gnomAD: rs199470473,
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ClinVar: RCV000023490, RCV000128648
|
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|
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</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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<p>In a female patient with genitopatellar syndrome (606170), originally reported by Lammer and Abrams (2002), Campeau et al. (2012) identified heterozygosity for a de novo 3802G-T transversion in exon 18 of the KAT6B gene, predicted to result in premature termination and loss of the highly conserved transcription activation domain (G1268X). The mutation was not found in the patient's unaffected parents or in the Exome Variant Server. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 GENITOPATELLAR 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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KAT6B, 16-BP DEL, NT3680
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<br />
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SNP: rs199470469,
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ClinVar: RCV000023491, RCV000128644
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a female patient with genitopatellar syndrome (606170), originally reported by Reardon (2002), Simpson et al. (2012) identified heterozygosity for a de novo 16-bp deletion (3680_3695del) in exon 18 of the KAT6B gene, resulting in a frameshift (Asp1227GlufsTer11). The mutation was not found in her unaffected parents, in the 1000 Genomes Project, or in 600 control exome profiles. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0011 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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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KAT6B, 8-BP DEL/4-BP INS, NT5064
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<br />
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SNP: rs387907364,
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ClinVar: RCV000043511
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a child of Sicilian ancestry with SBBYSS (603736), Szakszon et al. (2013) identified a heterozygous, de novo, complex insertion/deletion mutation, c.5064_5071delTACTATGGinsCACA, in exon 18 of the KAT6B gene, leading to a net loss of 4 bp, a frameshift, and a premature stop codon (Met1690GlufsTer24). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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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KAT6B, ARG1797TER
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<br />
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SNP: rs199470484,
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ClinVar: RCV000043512, RCV000128660, RCV001380964, RCV004786317
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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>By Sanger sequencing in a patient (individual 13) with typical SBBYSS (603736), Clayton-Smith et al. (2011) identified a heterozygous de novo c.5389C-T transition in exon 18 of the KAT6B gene, resulting in an arg1797-to-ter (R1797X) substitution. The parents did not have the mutation. </p><p>In a child of Hungarian ancestry with typical SBBYSS, previously reported by Szakszon et al. (2011), Szakszon et al. (2013) identified de novo heterozygosity for the same R2797X mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0013 SAY-BARBER-BIESECKER-YOUNG-SIMPSON 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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KAT6B, IVS5AS, A-G, -2
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<br />
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SNP: rs1841745686,
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ClinVar: RCV001254592
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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>By exome sequencing in affected members of a family with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; 603736), Yates et al. (2019) identified a heterozygous splice site mutation (c.847-2A-G) in intron 5 of the KAT6B gene, predicted to disrupt the exon 6 splice acceptor site. The finding was confirmed in the family by Sanger sequencing. The patients had a milder dysmorphic and impaired intellectual development phenotype than typically seen in SBBYSS. Yates et al. (2019) proposed that proximal pathogenic variants, which are more likely to result in nonsense-mediated decay (NMD), may be associated with a milder phenotype than distal pathogenic variants, which escape NMD and result in a more severe phenotype. The authors also noted variability of the phenotype within the family, which they suggested could be attributable to leaky splicing. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., Hudgins, L.
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|
<strong>Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.</strong>
|
|
Am. J. Med. Genet. 140A: 1567-1572, 2006.
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[PubMed: 16761293]
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[Full Text: https://doi.org/10.1002/ajmg.a.31258]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., and 9 others.
|
|
<strong>Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 282-289, 2012.
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[PubMed: 22265014]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.11.023]
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</p>
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<li>
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<p class="mim-text-font">
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Champagne, N., Bertos, N. R., Pelletier, N., Wang, A. H., Vezmar, M., Yang,Y., Heng, H. H., Yang, X. J.
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<strong>Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.</strong>
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J. Biol. Chem. 274: 28528-28536, 1999.
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[PubMed: 10497217]
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[Full Text: https://doi.org/10.1074/jbc.274.40.28528]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., Donnai, D.
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|
<strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong>
|
|
Clin. Dysmorph. 3: 115-120, 1994.
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[PubMed: 8055130]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others.
|
|
<strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong>
|
|
Am. J. Hum. Genet. 89: 675-681, 2011.
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[PubMed: 22077973]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.10.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J.
|
|
<strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong>
|
|
Clin. Genet. 74: 434-444, 2008.
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|
[PubMed: 18798845]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01087.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lammer, E. J., Abrams, L.
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<strong>Genitopatellar syndrome: delineating the anomalies of female genitalia.</strong>
|
|
Am. J. Med. Genet. 111: 316-318, 2002.
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|
|
[PubMed: 12210330]
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[Full Text: https://doi.org/10.1002/ajmg.10582]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lifchez, C. A., Rhead, W. J., Leuthner, S. R., Lubinsky, M. S.
|
|
<strong>Genitopatellar syndrome: expanding the phenotype.</strong>
|
|
Am. J. Med. Genet. 122A: 80-83, 2003.
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|
[PubMed: 12949978]
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[Full Text: https://doi.org/10.1002/ajmg.a.20268]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.
|
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<strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong>
|
|
Clin. Genet. 95: 253-261, 2019.
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[PubMed: 28857140]
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[Full Text: https://doi.org/10.1111/cge.13127]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Panagopoulos, I., Fioretos, T., Isaksson, M., Samuelsson, U., Billstrom, R., Strombeck, B., Mitelman, F., Johansson, B.
|
|
<strong>Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).</strong>
|
|
Hum. Molec. Genet. 10: 395-404, 2001.
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[PubMed: 11157802]
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[Full Text: https://doi.org/10.1093/hmg/10.4.395]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Reardon, W.
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<strong>Genitopatellar syndrome: a recognizable phenotype.</strong>
|
|
Am. J. Med. Genet. 111: 313-315, 2002.
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[PubMed: 12210329]
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[Full Text: https://doi.org/10.1002/ajmg.10590]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Simpson, M. A., Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., Trembath, R. C.
|
|
<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 290-294, 2012.
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[PubMed: 22265017]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.11.024]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E.
|
|
<strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong>
|
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Am. J. Med. Genet. 155A: 634-637, 2011.
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[PubMed: 21344633]
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[Full Text: https://doi.org/10.1002/ajmg.a.33837]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G.
|
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<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong>
|
|
Am. J. Med. Genet. 161A: 884-888, 2013.
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[PubMed: 23436491]
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[Full Text: https://doi.org/10.1002/ajmg.a.35848]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S.
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<strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong>
|
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Clin. Genet. 95: 334-335, 2019.
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[PubMed: 30353918]
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[Full Text: https://doi.org/10.1111/cge.13456]
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</p>
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</li>
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</ol>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 08/18/2020<br>Carol A. Bocchini - updated : 1/7/2015<br>Nara Sobreira - updated : 5/14/2013<br>Marla J. F. O'Neill - updated : 4/10/2012<br>Nara Sobreira - updated : 12/13/2011
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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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George E. Tiller : 4/26/2001
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<span class="text-nowrap mim-text-font">
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Edit History:
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carol : 08/18/2020<br>carol : 01/16/2015<br>carol : 1/16/2015<br>carol : 1/12/2015<br>carol : 1/7/2015<br>carol : 1/7/2015<br>carol : 8/29/2013<br>carol : 5/14/2013<br>carol : 4/24/2012<br>carol : 4/10/2012<br>terry : 4/10/2012<br>carol : 12/13/2011<br>carol : 12/12/2011<br>mgross : 2/21/2006<br>cwells : 5/2/2001<br>cwells : 4/26/2001
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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