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Entry
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- *611254 - KINESIN FAMILY MEMBER 7; KIF7
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- OMIM
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<p>
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<span class="h4">*611254</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/611254">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="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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<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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<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=ENSG00000166813;t=ENST00000394412" 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=374654" 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=611254" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000166813;t=ENST00000394412" 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_198525,XM_011521531,XM_047432477,XM_047432478,XM_047432479,XM_047432480,XM_047432481" 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_198525" 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=611254" 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=14187&isoform_id=14187_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/KIF7" 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/26454757,37181893,74353591,85566943,85567033,119622462,172045866,203096856,219517848,767984051,2217301026,2217301028,2217301030,2217301032,2217301034,2462543959,2462543961,2462543963,2462543965,2462543967,2462543969" 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/Q2M1P5" 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=374654" 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=ENSG00000166813;t=ENST00000394412" 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=KIF7" 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=KIF7" 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+374654" 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/KIF7" 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:374654" 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/374654" 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=chr15&hgg_gene=ENST00000394412.8&hgg_start=89617309&hgg_end=89663049&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 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:30497" 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://medlineplus.gov/genetics/gene/kif7" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611254[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=611254[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/KIF7/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/ENSG00000166813" 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=KIF7" 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=KIF7" 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=KIF7" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KIF7&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/PA134871338" 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:30497" 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/FBgn0000352.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:1098239" 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/KIF7#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:1098239" 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/374654/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=374654" 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-050307-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374654" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=KIF7&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> 715951007<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
611254
|
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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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KINESIN FAMILY MEMBER 7; KIF7
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KIF7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KIF7</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/503?start=-3&limit=10&highlight=503">15q26.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:89617309-89663049&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'})">15:89,617,309-89,663,049</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607131,614120,200990,200990" 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="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/503?start=-3&limit=10&highlight=503">
|
|
15q26.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Al-Gazali-Bakalinova syndrome
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607131"> 607131 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
</span>
|
|
</td>
|
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hydrolethalus syndrome 2
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614120"> 614120 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Acrocallosal syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/200990"> 200990 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>The KIF7 gene encodes a cilia-associated protein belonging to the kinesin family that plays a role in the hedgehog (see, e.g., SHH; <a href="/entry/600725">600725</a>) signaling pathway through the regulation of GLI (see, e.g., GLI1; <a href="/entry/165220">165220</a>) transcription factors (summary by <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al., 2011</a>). The KIF7 gene also plays a role in the regulation of microtubule acetylation and stabilization (<a href="#3" class="mim-tip-reference" title="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21633164+21552264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By database searching using Drosophila Cos2 and mouse Kif7 as probes, <a href="#6" class="mim-tip-reference" title="Katoh, Y., Katoh, M. <strong>Characterization of KIF7 gene in silico.</strong> Int. J. Oncol. 25: 1881-1886, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15547730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15547730</a>]" pmid="15547730">Katoh and Katoh (2004)</a> identified full-length KIF7. The deduced 1,343-amino protein shares 43.6% amino acid identity with KIF27 (<a href="/entry/611253">611253</a>) and 61.6% identity with KIF27 over the kinesin motor domain. KIF7 and KIF27 also share an additional region of high homology, which the authors called the KIF7-KIF27 homologous (KIF727H) domain. EST database analysis showed KIF7 mRNA expression in embryonic stem cells, melanotic melanoma, and Jurkat T cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15547730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Katoh, Y., Katoh, M. <strong>Characterization of KIF7 gene in silico.</strong> Int. J. Oncol. 25: 1881-1886, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15547730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15547730</a>]" pmid="15547730">Katoh and Katoh (2004)</a> determined that the KIF7 gene contains at least 19 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15547730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Katoh, Y., Katoh, M. <strong>Characterization of KIF7 gene in silico.</strong> Int. J. Oncol. 25: 1881-1886, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15547730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15547730</a>]" pmid="15547730">Katoh and Katoh (2004)</a> mapped the KIF7 gene to chromosome 15q26.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15547730" 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="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al. (2011)</a> demonstrated that KIF7 coprecipitated with NPHP1 (<a href="/entry/607100">607100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21633164" 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 immunofluorescence analysis, <a href="#5" class="mim-tip-reference" title="He, M., Subramanian, R., Bangs, F., Omelchenko, T., Liem, K. F., Jr., Kapoor, T. M., Anderson, K. V. <strong>The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment.</strong> Nature Cell Biol. 16: 663-672, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24952464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24952464</a>] [<a href="https://doi.org/10.1038/ncb2988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24952464">He et al. (2014)</a> showed that endogenous Kif7 localized to primary cilia tips in mouse embryos and mouse embryonic fibroblasts (MEFs), independently of Shh pathway proteins. Immunofluorescence and electron microscopic analyses revealed that Kif7-null embryonic neural epithelium and cultured MEFs had abnormally long, twisted, unstable cilia with decreased levels of tubulin modification. However, intraflagellar transport (IFT) was normal in Kif7-null cilia. Coimmunoprecipitation analysis showed that Kif7 formed a homodimer and colocalized and interacted with microtubules in transfected HEK293T cells. Domain mapping revealed that microtubule association and dimerization depended on the motor domain and first coiled-coil domain of Kif7. Fluorescence microscopy-based assays demonstrated that purified recombinant Kif7 bound directly to microtubules and preferentially associated with their growing plus ends, where it inhibited microtubule polymerization in an ATP hydrolysis-dependent manner. The pattern of IFT particle movement was perturbed in Kif7-null MEFs, and multiple compartments with tip-like properties became distributed along the cilia. Immunofluorescence analysis demonstrated that the core hedgehog signaling components Gli2 (<a href="/entry/165230">165230</a>) and Sufu (<a href="/entry/607035">607035</a>) localized abnormally in puncta along the axoneme in Kif7-null MEFs, whereas in wildtype cells they accumulated at cilia tips. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24952464" 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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By genomewide linkage analysis followed by candidate gene analysis of a consanguineous Algerian family with hydrolethalus syndrome-2 (HLS2; <a href="/entry/614120">614120</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous deletion in the KIF7 gene (<a href="#0001">611254.0001</a>) in affected members. There were 4 affected sib fetuses, ranging in age from 11 to 15 weeks' gestation. Two had anencephaly, 1 of whom had postaxial polydactyly of an upper limb and preaxial polydactyly of both lower limbs. The 2 other fetuses had hydrocephaly, 1 also with arhinencephaly, postaxial polydactyly of the upper limb and pre- and postaxial polydactyly of the lower limbs. Two had cleft palate and hallux duplication, and 1 had micrognathia. Neuropathologic examination of 1 fetus showed widened ventricles and midbrain-hindbrain malformation suggestive of the molar tooth sign. The molecular findings indicated that HLS2 is a ciliopathy. Transcriptome analysis from these affected fetuses showed upregulation of direct and/or secondary targets of GLI1 (<a href="/entry/165220">165220</a>), GLI2 (<a href="/entry/165230">165230</a>), and GLI3 (<a href="/entry/165240">165240</a>), although these transcription factors were normally expressed. Thus, there was an overall increase in SHH-mediated target gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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>Acrocallosal Syndrome</em></strong></p><p>
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By genomewide linkage analysis followed by candidate gene sequencing, <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified 3 nonsense and 5 frameshift mutations in the KIF7 gene (see, e.g., <a href="#0001">611254.0001</a>-<a href="#0005">611254.0005</a>) in patients with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>) from 6 families and in 2 individual patients. The mutations were presumably homozygous. Most affected individuals had macrocephaly, mental retardation, abnormal facies, and brain abnormalities including dilated ventricles, corpus callosum agenesis or hypoplasia, and a superior vermis dysgenesis resulting in the molar tooth sign in 4 cases. Five affected individuals had postaxial polydactyly of the hands. In the feet, polydactyly was preaxial; hallux duplication was postaxial or preaxial and postaxial. Cultured fibroblasts from 1 patient showed the presence of primary cilia with normal components, but the cilia were longer in patient cells compared to controls, suggesting that KIF7 may be involved in regulating cilia length. The findings indicated that ACLS is a ciliopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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="#3" class="mim-tip-reference" title="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al. (2011)</a> identified a homozygous truncating mutation in the KIF7 gene (<a href="#0006">611254.0006</a>) in 2 Egyptian sibs with Joubert syndrome-12 (JBTS12; see <a href="/entry/200990">200990</a>). A third patient with the disorder had a heterozygous mutation (<a href="#0007">611254.0007</a>), but a second pathogenic allele was not identified. A fourth patient with Joubert syndrome had 2 pathogenic mutations in the TMEM67 gene (<a href="/entry/609884#0013">609884.0013</a>, <a href="/entry/609884#0024">609884.0024</a>), consistent with JBTS6 (<a href="/entry/610688">610688</a>), as well as a heterozygous mutation in the KIF7 gene (<a href="#0008">611254.0008</a>). Knockdown of KIF7 expression in cell lines caused defects in cilia formation and induced abnormal centrosomal duplication and fragmentation of the Golgi network. These cellular phenotypes likely resulted from abnormal tubulin acetylation and decreased microtubular dynamics. The findings indicated that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21633164" 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>Al-Gazali-Bakalinova Syndrome</em></strong></p><p>
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By whole-exome sequencing in the family with macrocephaly, multiple epiphyseal dysplasia, and distinctive facies (AGBK; <a href="/entry/607131">607131</a>) described by <a href="#1" class="mim-tip-reference" title="Al-Gazali, L. I., Bakalinova, D. <strong>Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong> Clin. Dysmorph. 7: 177-184, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9689990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9689990</a>] [<a href="https://doi.org/10.1097/00019605-199807000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9689990">Al-Gazali and Bakalinova (1998)</a>, <a href="#2" class="mim-tip-reference" title="Ali, B. R., Silhavy, J. L., Akawi, N. A., Gleeson, J. G., Al-Gazali, L. <strong>A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong> Orphanet J. Rare Dis. 7: 27, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22587682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22587682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22587682[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/10.1186/1750-1172-7-27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22587682">Ali et al. (2012)</a> identified homozygosity for a missense mutation (N1060S; <a href="#0009">611254.0009</a>) at a conserved residue in the KIF7 gene. The mutation segregated with the phenotype in the family and was not found in 188 mixed Omani/UAE ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9689990+22587682" 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>Heterozygous KIF7 Mutations in Ciliopathies</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified 8 different heterozygous missense mutations in the KIF7 gene in 8 patients with ciliopathies, including Bardet-Biedl syndrome (BBS; <a href="/entry/209900">209900</a>), Meckel syndrome (MKS; <a href="/entry/249000">249000</a>), Joubert syndrome (JBTS; <a href="/entry/213300">213300</a>), Pallister-Hall syndrome (PHS; <a href="/entry/146510">146510</a>), and OFD6 (<a href="/entry/277170">277170</a>). Four of these patients had additional pathogenic mutations in other BBS genes. Rescue studies of somites in morphant zebrafish embryos demonstrated that the heterozygous missense mutations were hypomorphs, and <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> concluded that these alleles may contribute to or exacerbate the phenotype of other ciliopathies, particularly BBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In mice, <a href="#8" class="mim-tip-reference" title="Liem, K. F., Jr., He, M., Ocbina, P. J. R., Anderson, K. V. <strong>Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.</strong> Proc. Nat. Acad. Sci. 106: 13377-13382, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666503[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0906944106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666503">Liem et al. (2009)</a> demonstrated that Kif7 is a cilia-associated protein that regulates signaling from the membrane protein Smoothened (SMOH; <a href="/entry/601500">601500</a>) to Gli transcription factors, and has both positive and negative roles in Shh (<a href="/entry/600725">600725</a>) signal transduction. Mouse Kif7 activity depends on the presence of cilia. Kif7 localizes to base of the primary cilium in the absence of Shh, and activation of the Shh pathway promotes trafficking of Kif7 from the base to the tip of the cilium. The results suggested that Kif7 is a core regulator of Shh signaling that may also act as a ciliary motor. A murine mutation, matariki (maki), was identified that caused an expanded motor neuron domain in the embryonic day 10.5 (E10.5) neural tube. Maki mutants died at the end of gestation. The mutant was due to a L130P missense mutation in the motor domain of Kif7 that resulted in a loss of Kif7 activity and an increase in activity of the Shh pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666503" 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="Putoux, A., Baas, D., Paschaki, M., Morle, L., Maire, C., Attie-Bitach, T., Thomas, S., Durand, B. <strong>Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.</strong> Hum. Molec. Genet. 28: 877-887, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30445565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30445565</a>] [<a href="https://doi.org/10.1093/hmg/ddy392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30445565">Putoux et al. (2019)</a> found that deletion of Kif7 in mice resulted in lethality before birth or at birth. Kif7 -/- mouse embryos exhibited abnormal development of corpus callosum (CC), exencephaly, skeletal malformations, neural patterning defects, and microphthalmia, recapitulating the phenotype of ACLS in human. Increased activity of Gli3 repressor (GLI3R) rescued these defects in Kif7 -/- mice in a dose-dependent manner. Further analysis revealed that Kif7 regulated the distribution of guidepost neurons and glial cells at the midline by modulating Gli3r activity, demonstrating that decreased Gli3r signaling was responsible for the ACLS features in Kif7 -/- mice. Kif7 -/- embryos showed increased expression of Fgf8 (<a href="/entry/600483">600483</a>) in the ventral medial pallium of developing brain compared with restricted Fgf8 expression in commissural plate in wildtype. Reducing Fgf8 expression partially rescued the defects in CC formation and guidepost neuron organization in Kif7 -/- embryos. These findings demonstrated that Fgf8 signaling acted downstream of Kif7 in anterior brain during CC formation through proper organization of astroglial cells and guidepost neurons at the telencephalic midline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30445565" 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>Hydrolethalus Syndrome 2</em></strong></p><p>
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By genomewide linkage analysis followed by candidate gene analysis of a consanguineous Algerian family with hydrolethalus syndrome-2 (HLS2; <a href="/entry/614120">614120</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous 2-bp deletion (2896_2897del) in the beginning of exon 15 of the KIF7 gene. There were 4 sib fetuses ranging in age from 11 to 15 weeks' gestation. Two had anencephaly, 1 of whom had postaxial polydactyly of an upper limb and preaxial polydactyly of both lower limbs. The 2 other fetuses had hydrocephaly, 1 also with arhinencephaly, postaxial polydactyly of the upper limbs, and pre- and postaxial polydactyly of the lower limbs. Two had cleft palate and hallux duplication, and 1 had micrognathia. Neuropathologic examination of 1 fetus showed widened ventricles and midbrain-hindbrain malformation suggestive of the molar tooth sign. RT-PCR analysis of RNA extracted from lungs of affected fetuses showed no aberrant splicing or RNA decay. Transcriptome analysis from affected fetuses showed upregulation of direct and/or secondary targets of GLI1 (<a href="/entry/165220">165220</a>), GLI2 (<a href="/entry/165230">165230</a>), and GLI3 (<a href="/entry/165240">165240</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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>Acrocallosal Syndrome</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified the same 2-bp deletion in the KIF7 gene in a 15-year-old Algerian boy with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>) who was born of consanguineous parents. This patient had mental retardation, thin corpus callosum, molar tooth sign on brain imaging, preaxial polydactyly of the lower limbs, hypertelorism, retrognathia, and dental anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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> rs387907044 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907044;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/rs387907044?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=rs387907044" 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=rs387907044" 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=RCV000023882" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023882" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023882</a>
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<p>In a 4-year-old Turkish boy, born of consanguineous parents, with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous 460C-T transition in exon 3 of the KIF7 gene, resulting in an arg154-to-ter (R154X) substitution in the kinesin motor domain. This patient had mental retardation, dysmorphic facial features, molar tooth sign on brain imaging, agenesis of the corpus callosum, and preaxial polydactyly of one lower limb. Cultured fibroblasts from this patient showed the presence of primary cilia with normal components, but the cilia were longer in patient cells compared to controls, suggesting that KIF7 may be involved in regulating cilia length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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">rs387907045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907045;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=rs387907045" 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=rs387907045" 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=RCV000023883 OR RCV003329235" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023883, RCV003329235" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023883...</a>
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<p>In a 26-month-old Turkish boy with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous 3001C-T transition in exon 15 of the KIF7 gene, resulting in a gln1001-to-ter (Q1001X) substitution in the coiled-coil domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" 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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KIF7, 1-BP DUP, 587T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044463 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044463;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=rs797044463" 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=rs797044463" 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=RCV000023884" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023884" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023884</a>
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<p>In a 12-year-old Finnish boy with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous 1-bp duplication (587dupT) in exon 4 of the KIF7 gene in the kinesin motor domain. The mutation was predicted to result in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ACROCALLOSAL 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">rs797044464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044464;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=rs797044464" 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=rs797044464" 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=RCV000023885" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023885" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023885</a>
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<p>In a 9-year-old Pakistani boy, born of consanguineous parents, with acrocallosal syndrome (ACLS; <a href="/entry/200990">200990</a>), <a href="#10" class="mim-tip-reference" title="Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others. <strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong> Nature Genet. 43: 601-606, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21552264">Putoux et al. (2011)</a> identified a homozygous 1-bp deletion (687delG) in exon 4 of the KIF7 gene in the kinesin motor domain, resulting in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21552264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 JOUBERT SYNDROME 12</strong>
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KIF7, 1-BP DEL, 217G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044465 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044465;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=rs797044465" 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=rs797044465" 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=RCV000023886 OR RCV000414144" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023886, RCV000414144" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023886...</a>
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<p>In 2 Egyptian sibs, born of consanguineous parents, with Joubert syndrome-12 (JBTS12; see <a href="/entry/200990">200990</a>), <a href="#3" class="mim-tip-reference" title="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al. (2011)</a> identified a homozygous 1-bp deletion (217delG) in exon 1 of the KIF7 gene, predicted to result in a truncated protein or nonsense-mediated mRNA decay. The mutation was not found in 104 controls. The patients had mental retardation, molar tooth sign on brain MRI, and dysmorphic facial features, including hypertelorism, triangular mouth, downslanting palpebral fissures, low-set ears, and prominent forehead. One patient had ataxia, agenesis of the corpus callosum, and polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21633164" 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">rs797044466 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044466;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=rs797044466" 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=rs797044466" 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=RCV000023887 OR RCV000023888" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023887, RCV000023888" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023887...</a>
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<p>In a German boy with Joubert syndrome-12 (JBTS12; see <a href="/entry/200990">200990</a>), <a href="#3" class="mim-tip-reference" title="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al. (2011)</a> identified a heterozygous 1-bp deletion in exon 3 of the KIF7 gene, resulting in truncation. A second pathogenic allele was not identified. The patient had moderate developmental delay and the molar tooth sign on brain MRI, but did not have dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21633164" 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 German patient with digenic inheritance of Joubert syndrome, <a href="#7" class="mim-tip-reference" title="Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others. <strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong> Nature Genet. 44: 193-199, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22246503">Lee et al. (2012)</a> identified a heterozygous 811delG mutation in the KIF7 gene consistent with JBTS12, and a heterozygous mutation in the CEP41 gene (R179H; <a href="/entry/610523#0004">610523.0004</a>) consistent with JBTS15 (<a href="/entry/614464">614464</a>). The patient had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing difficulties, and the molar tooth sign on brain imaging, but no liver, renal, or retinal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246503" 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> rs780942335 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs780942335;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/rs780942335?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=rs780942335" 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=rs780942335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Joubert syndrome has not been confirmed.</p><p>In a German girl with Joubert syndrome, <a href="#3" class="mim-tip-reference" title="Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. <strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong> J. Clin. Invest. 121: 2662-2667, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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/10.1172/JCI43639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21633164">Dafinger et al. (2011)</a> identified a heterozygous 12-bp deletion (3986del12) in the last KIF7 exon, predicting an in-frame loss of 4 residues in the putative cargo domain. She also had 2 pathogenic missense mutations in the TMEM67 gene (I833T, <a href="/entry/609884#0013">609884.0013</a> and P358L, <a href="/entry/609884#0024">609884.0024</a>), consistent with JBTS6 (<a href="/entry/610688">610688</a>). The patient had mental retardation, molar tooth sign on brain MRI, ataxia, hypertelorism, low-set ears, coloboma, and elevated liver enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21633164" 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">rs886039282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886039282;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=rs886039282" 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=rs886039282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>By whole-exome sequencing in the family described by <a href="#1" class="mim-tip-reference" title="Al-Gazali, L. I., Bakalinova, D. <strong>Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong> Clin. Dysmorph. 7: 177-184, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9689990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9689990</a>] [<a href="https://doi.org/10.1097/00019605-199807000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9689990">Al-Gazali and Bakalinova (1998)</a> with Al-Gazali-Bakalinova syndrome (AGBK; <a href="/entry/607131">607131</a>), <a href="#2" class="mim-tip-reference" title="Ali, B. R., Silhavy, J. L., Akawi, N. A., Gleeson, J. G., Al-Gazali, L. <strong>A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong> Orphanet J. Rare Dis. 7: 27, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22587682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22587682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22587682[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/10.1186/1750-1172-7-27" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22587682">Ali et al. (2012)</a> identified homozygosity for a c.3179A-G transition (c.3179A-G, NM_198525.2) in the KIF7 gene, resulting in an asn1060-to-ser (N1060S) substitution. The mutation segregated with the phenotype in the family and was absent from 188 mixed Omani/UAE ethnically matched controls. The N1060 residue is located after the SMC domain of KIF7 and is absolutely conserved in KIF7 family members. The N1060S variant was not present in the ExAC database (1/21/2016) (<a href="#4" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 1/21/2016."None>Hamosh, 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9689990+22587682" 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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Orphanet J. Rare Dis. 7: 27, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22587682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22587682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22587682[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=22587682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Dafinger2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J.
|
|
<strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong>
|
|
J. Clin. Invest. 121: 2662-2667, 2011.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21633164</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21633164[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=21633164" 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/10.1172/JCI43639" 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="4" class="mim-anchor"></a>
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<a id="Hamosh2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 1/21/2016.
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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="5" class="mim-anchor"></a>
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<a id="He2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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He, M., Subramanian, R., Bangs, F., Omelchenko, T., Liem, K. F., Jr., Kapoor, T. M., Anderson, K. V.
|
|
<strong>The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment.</strong>
|
|
Nature Cell Biol. 16: 663-672, 2014.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24952464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24952464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24952464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ncb2988" 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="6" class="mim-anchor"></a>
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<a id="Katoh2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Katoh, Y., Katoh, M.
|
|
<strong>Characterization of KIF7 gene in silico.</strong>
|
|
Int. J. Oncol. 25: 1881-1886, 2004.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15547730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15547730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15547730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="7" class="mim-anchor"></a>
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<a id="Lee2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
|
|
<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
|
|
Nature Genet. 44: 193-199, 2012.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22246503[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=22246503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.1078" 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="8" class="mim-anchor"></a>
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<a id="Liem2009" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Liem, K. F., Jr., He, M., Ocbina, P. J. R., Anderson, K. V.
|
|
<strong>Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 13377-13382, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666503</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666503[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=19666503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0906944106" 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="Putoux2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Putoux, A., Baas, D., Paschaki, M., Morle, L., Maire, C., Attie-Bitach, T., Thomas, S., Durand, B.
|
|
<strong>Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.</strong>
|
|
Hum. Molec. Genet. 28: 877-887, 2019.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30445565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30445565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30445565" 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/ddy392" 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="Putoux2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others.
|
|
<strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong>
|
|
Nature Genet. 43: 601-606, 2011.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21552264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21552264</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21552264[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=21552264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.826" 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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Bao Lige - updated : 03/20/2020
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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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Bao Lige - updated : 05/15/2019<br>Ada Hamosh - updated : 1/21/2016<br>Cassandra L. Kniffin - updated : 2/1/2012<br>Cassandra L. Kniffin - updated : 8/18/2011<br>Cassandra L. Kniffin - updated : 7/27/2011
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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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Dorothy S. Reilly : 7/25/2007
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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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mgross : 03/20/2020
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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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alopez : 11/08/2019<br>mgross : 05/15/2019<br>carol : 12/15/2017<br>carol : 05/22/2017<br>alopez : 10/05/2016<br>carol : 01/22/2016<br>joanna : 1/21/2016<br>carol : 9/10/2015<br>carol : 9/10/2015<br>carol : 12/11/2014<br>carol : 6/19/2014<br>carol : 4/18/2013<br>carol : 6/5/2012<br>alopez : 4/12/2012<br>carol : 2/7/2012<br>carol : 2/2/2012<br>ckniffin : 2/1/2012<br>terry : 9/13/2011<br>alopez : 8/23/2011<br>ckniffin : 8/18/2011<br>alopez : 8/4/2011<br>ckniffin : 7/27/2011<br>carol : 10/26/2009<br>wwang : 7/25/2007
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611254
|
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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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|
KINESIN FAMILY MEMBER 7; KIF7
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KIF7</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> 715951007;
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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>
|
|
Cytogenetic location: 15q26.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 15:89,617,309-89,663,049 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
15q26.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Al-Gazali-Bakalinova syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607131
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Hydrolethalus syndrome 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614120
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
|
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Acrocallosal syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
200990
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
200990
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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3
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The KIF7 gene encodes a cilia-associated protein belonging to the kinesin family that plays a role in the hedgehog (see, e.g., SHH; 600725) signaling pathway through the regulation of GLI (see, e.g., GLI1; 165220) transcription factors (summary by Putoux et al., 2011). The KIF7 gene also plays a role in the regulation of microtubule acetylation and stabilization (Dafinger et al., 2011). </p>
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<div>
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<br />
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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>By database searching using Drosophila Cos2 and mouse Kif7 as probes, Katoh and Katoh (2004) identified full-length KIF7. The deduced 1,343-amino protein shares 43.6% amino acid identity with KIF27 (611253) and 61.6% identity with KIF27 over the kinesin motor domain. KIF7 and KIF27 also share an additional region of high homology, which the authors called the KIF7-KIF27 homologous (KIF727H) domain. EST database analysis showed KIF7 mRNA expression in embryonic stem cells, melanotic melanoma, and Jurkat T cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Katoh and Katoh (2004) determined that the KIF7 gene contains at least 19 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Katoh and Katoh (2004) mapped the KIF7 gene to chromosome 15q26.1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dafinger et al. (2011) demonstrated that KIF7 coprecipitated with NPHP1 (607100). </p><p>Using immunofluorescence analysis, He et al. (2014) showed that endogenous Kif7 localized to primary cilia tips in mouse embryos and mouse embryonic fibroblasts (MEFs), independently of Shh pathway proteins. Immunofluorescence and electron microscopic analyses revealed that Kif7-null embryonic neural epithelium and cultured MEFs had abnormally long, twisted, unstable cilia with decreased levels of tubulin modification. However, intraflagellar transport (IFT) was normal in Kif7-null cilia. Coimmunoprecipitation analysis showed that Kif7 formed a homodimer and colocalized and interacted with microtubules in transfected HEK293T cells. Domain mapping revealed that microtubule association and dimerization depended on the motor domain and first coiled-coil domain of Kif7. Fluorescence microscopy-based assays demonstrated that purified recombinant Kif7 bound directly to microtubules and preferentially associated with their growing plus ends, where it inhibited microtubule polymerization in an ATP hydrolysis-dependent manner. The pattern of IFT particle movement was perturbed in Kif7-null MEFs, and multiple compartments with tip-like properties became distributed along the cilia. Immunofluorescence analysis demonstrated that the core hedgehog signaling components Gli2 (165230) and Sufu (607035) localized abnormally in puncta along the axoneme in Kif7-null MEFs, whereas in wildtype cells they accumulated at cilia tips. </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>Hydrolethalus Syndrome 2</em></strong></p><p>
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By genomewide linkage analysis followed by candidate gene analysis of a consanguineous Algerian family with hydrolethalus syndrome-2 (HLS2; 614120), Putoux et al. (2011) identified a homozygous deletion in the KIF7 gene (611254.0001) in affected members. There were 4 affected sib fetuses, ranging in age from 11 to 15 weeks' gestation. Two had anencephaly, 1 of whom had postaxial polydactyly of an upper limb and preaxial polydactyly of both lower limbs. The 2 other fetuses had hydrocephaly, 1 also with arhinencephaly, postaxial polydactyly of the upper limb and pre- and postaxial polydactyly of the lower limbs. Two had cleft palate and hallux duplication, and 1 had micrognathia. Neuropathologic examination of 1 fetus showed widened ventricles and midbrain-hindbrain malformation suggestive of the molar tooth sign. The molecular findings indicated that HLS2 is a ciliopathy. Transcriptome analysis from these affected fetuses showed upregulation of direct and/or secondary targets of GLI1 (165220), GLI2 (165230), and GLI3 (165240), although these transcription factors were normally expressed. Thus, there was an overall increase in SHH-mediated target gene expression. </p><p><strong><em>Acrocallosal Syndrome</em></strong></p><p>
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|
By genomewide linkage analysis followed by candidate gene sequencing, Putoux et al. (2011) identified 3 nonsense and 5 frameshift mutations in the KIF7 gene (see, e.g., 611254.0001-611254.0005) in patients with acrocallosal syndrome (ACLS; 200990) from 6 families and in 2 individual patients. The mutations were presumably homozygous. Most affected individuals had macrocephaly, mental retardation, abnormal facies, and brain abnormalities including dilated ventricles, corpus callosum agenesis or hypoplasia, and a superior vermis dysgenesis resulting in the molar tooth sign in 4 cases. Five affected individuals had postaxial polydactyly of the hands. In the feet, polydactyly was preaxial; hallux duplication was postaxial or preaxial and postaxial. Cultured fibroblasts from 1 patient showed the presence of primary cilia with normal components, but the cilia were longer in patient cells compared to controls, suggesting that KIF7 may be involved in regulating cilia length. The findings indicated that ACLS is a ciliopathy. </p><p>Dafinger et al. (2011) identified a homozygous truncating mutation in the KIF7 gene (611254.0006) in 2 Egyptian sibs with Joubert syndrome-12 (JBTS12; see 200990). A third patient with the disorder had a heterozygous mutation (611254.0007), but a second pathogenic allele was not identified. A fourth patient with Joubert syndrome had 2 pathogenic mutations in the TMEM67 gene (609884.0013, 609884.0024), consistent with JBTS6 (610688), as well as a heterozygous mutation in the KIF7 gene (611254.0008). Knockdown of KIF7 expression in cell lines caused defects in cilia formation and induced abnormal centrosomal duplication and fragmentation of the Golgi network. These cellular phenotypes likely resulted from abnormal tubulin acetylation and decreased microtubular dynamics. The findings indicated that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to Joubert syndrome. </p><p><strong><em>Al-Gazali-Bakalinova Syndrome</em></strong></p><p>
|
|
By whole-exome sequencing in the family with macrocephaly, multiple epiphyseal dysplasia, and distinctive facies (AGBK; 607131) described by Al-Gazali and Bakalinova (1998), Ali et al. (2012) identified homozygosity for a missense mutation (N1060S; 611254.0009) at a conserved residue in the KIF7 gene. The mutation segregated with the phenotype in the family and was not found in 188 mixed Omani/UAE ethnically matched controls. </p><p><strong><em>Heterozygous KIF7 Mutations in Ciliopathies</em></strong></p><p>
|
|
Putoux et al. (2011) identified 8 different heterozygous missense mutations in the KIF7 gene in 8 patients with ciliopathies, including Bardet-Biedl syndrome (BBS; 209900), Meckel syndrome (MKS; 249000), Joubert syndrome (JBTS; 213300), Pallister-Hall syndrome (PHS; 146510), and OFD6 (277170). Four of these patients had additional pathogenic mutations in other BBS genes. Rescue studies of somites in morphant zebrafish embryos demonstrated that the heterozygous missense mutations were hypomorphs, and Putoux et al. (2011) concluded that these alleles may contribute to or exacerbate the phenotype of other ciliopathies, particularly BBS. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In mice, Liem et al. (2009) demonstrated that Kif7 is a cilia-associated protein that regulates signaling from the membrane protein Smoothened (SMOH; 601500) to Gli transcription factors, and has both positive and negative roles in Shh (600725) signal transduction. Mouse Kif7 activity depends on the presence of cilia. Kif7 localizes to base of the primary cilium in the absence of Shh, and activation of the Shh pathway promotes trafficking of Kif7 from the base to the tip of the cilium. The results suggested that Kif7 is a core regulator of Shh signaling that may also act as a ciliary motor. A murine mutation, matariki (maki), was identified that caused an expanded motor neuron domain in the embryonic day 10.5 (E10.5) neural tube. Maki mutants died at the end of gestation. The mutant was due to a L130P missense mutation in the motor domain of Kif7 that resulted in a loss of Kif7 activity and an increase in activity of the Shh pathway. </p><p>Putoux et al. (2019) found that deletion of Kif7 in mice resulted in lethality before birth or at birth. Kif7 -/- mouse embryos exhibited abnormal development of corpus callosum (CC), exencephaly, skeletal malformations, neural patterning defects, and microphthalmia, recapitulating the phenotype of ACLS in human. Increased activity of Gli3 repressor (GLI3R) rescued these defects in Kif7 -/- mice in a dose-dependent manner. Further analysis revealed that Kif7 regulated the distribution of guidepost neurons and glial cells at the midline by modulating Gli3r activity, demonstrating that decreased Gli3r signaling was responsible for the ACLS features in Kif7 -/- mice. Kif7 -/- embryos showed increased expression of Fgf8 (600483) in the ventral medial pallium of developing brain compared with restricted Fgf8 expression in commissural plate in wildtype. Reducing Fgf8 expression partially rescued the defects in CC formation and guidepost neuron organization in Kif7 -/- embryos. These findings demonstrated that Fgf8 signaling acted downstream of Kif7 in anterior brain during CC formation through proper organization of astroglial cells and guidepost neurons at the telencephalic midline. </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>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HYDROLETHALUS SYNDROME 2 (1 family)</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">
|
|
ACROCALLOSAL SYNDROME, INCLUDED
|
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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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|
|
KIF7, 2-BP DEL
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|
<br />
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|
|
SNP: rs752248403,
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|
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gnomAD: rs752248403,
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|
|
ClinVar: RCV000023880, RCV000023881, RCV001849281, RCV003327364, RCV005007892
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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 />
|
|
<p><strong><em>Hydrolethalus Syndrome 2</em></strong></p><p>
|
|
By genomewide linkage analysis followed by candidate gene analysis of a consanguineous Algerian family with hydrolethalus syndrome-2 (HLS2; 614120), Putoux et al. (2011) identified a homozygous 2-bp deletion (2896_2897del) in the beginning of exon 15 of the KIF7 gene. There were 4 sib fetuses ranging in age from 11 to 15 weeks' gestation. Two had anencephaly, 1 of whom had postaxial polydactyly of an upper limb and preaxial polydactyly of both lower limbs. The 2 other fetuses had hydrocephaly, 1 also with arhinencephaly, postaxial polydactyly of the upper limbs, and pre- and postaxial polydactyly of the lower limbs. Two had cleft palate and hallux duplication, and 1 had micrognathia. Neuropathologic examination of 1 fetus showed widened ventricles and midbrain-hindbrain malformation suggestive of the molar tooth sign. RT-PCR analysis of RNA extracted from lungs of affected fetuses showed no aberrant splicing or RNA decay. Transcriptome analysis from affected fetuses showed upregulation of direct and/or secondary targets of GLI1 (165220), GLI2 (165230), and GLI3 (165240). </p><p><strong><em>Acrocallosal Syndrome</em></strong></p><p>
|
|
Putoux et al. (2011) identified the same 2-bp deletion in the KIF7 gene in a 15-year-old Algerian boy with acrocallosal syndrome (ACLS; 200990) who was born of consanguineous parents. This patient had mental retardation, thin corpus callosum, molar tooth sign on brain imaging, preaxial polydactyly of the lower limbs, hypertelorism, retrognathia, and dental anomalies. </p>
|
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 ACROCALLOSAL 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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KIF7, ARG154TER
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<br />
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SNP: rs387907044,
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gnomAD: rs387907044,
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ClinVar: RCV000023882
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 4-year-old Turkish boy, born of consanguineous parents, with acrocallosal syndrome (ACLS; 200990), Putoux et al. (2011) identified a homozygous 460C-T transition in exon 3 of the KIF7 gene, resulting in an arg154-to-ter (R154X) substitution in the kinesin motor domain. This patient had mental retardation, dysmorphic facial features, molar tooth sign on brain imaging, agenesis of the corpus callosum, and preaxial polydactyly of one lower limb. Cultured fibroblasts from this patient showed the presence of primary cilia with normal components, but the cilia were longer in patient cells compared to controls, suggesting that KIF7 may be involved in regulating cilia length. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 ACROCALLOSAL 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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|
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KIF7, GLN1001TER
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<br />
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|
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SNP: rs387907045,
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ClinVar: RCV000023883, RCV003329235
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 26-month-old Turkish boy with acrocallosal syndrome (ACLS; 200990), Putoux et al. (2011) identified a homozygous 3001C-T transition in exon 15 of the KIF7 gene, resulting in a gln1001-to-ter (Q1001X) substitution in the coiled-coil domain. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 ACROCALLOSAL 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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KIF7, 1-BP DUP, 587T
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<br />
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SNP: rs797044463,
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ClinVar: RCV000023884
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 12-year-old Finnish boy with acrocallosal syndrome (ACLS; 200990), Putoux et al. (2011) identified a homozygous 1-bp duplication (587dupT) in exon 4 of the KIF7 gene in the kinesin motor domain. The mutation was predicted to result in a frameshift and premature termination. </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>.0005 ACROCALLOSAL 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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KIF7, 1-BP DEL, 687G
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<br />
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|
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SNP: rs797044464,
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ClinVar: RCV000023885
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Pakistani boy, born of consanguineous parents, with acrocallosal syndrome (ACLS; 200990), Putoux et al. (2011) identified a homozygous 1-bp deletion (687delG) in exon 4 of the KIF7 gene in the kinesin motor domain, resulting in a frameshift and premature termination. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 JOUBERT SYNDROME 12</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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KIF7, 1-BP DEL, 217G
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<br />
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SNP: rs797044465,
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ClinVar: RCV000023886, RCV000414144
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In 2 Egyptian sibs, born of consanguineous parents, with Joubert syndrome-12 (JBTS12; see 200990), Dafinger et al. (2011) identified a homozygous 1-bp deletion (217delG) in exon 1 of the KIF7 gene, predicted to result in a truncated protein or nonsense-mediated mRNA decay. The mutation was not found in 104 controls. The patients had mental retardation, molar tooth sign on brain MRI, and dysmorphic facial features, including hypertelorism, triangular mouth, downslanting palpebral fissures, low-set ears, and prominent forehead. One patient had ataxia, agenesis of the corpus callosum, and polydactyly. </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>.0007 JOUBERT SYNDROME 12</strong>
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JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
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KIF7, 1-BP DEL, 811G
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SNP: rs797044466,
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ClinVar: RCV000023887, RCV000023888
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<p>In a German boy with Joubert syndrome-12 (JBTS12; see 200990), Dafinger et al. (2011) identified a heterozygous 1-bp deletion in exon 3 of the KIF7 gene, resulting in truncation. A second pathogenic allele was not identified. The patient had moderate developmental delay and the molar tooth sign on brain MRI, but did not have dysmorphic features. </p><p>In a German patient with digenic inheritance of Joubert syndrome, Lee et al. (2012) identified a heterozygous 811delG mutation in the KIF7 gene consistent with JBTS12, and a heterozygous mutation in the CEP41 gene (R179H; 610523.0004) consistent with JBTS15 (614464). The patient had hypotonia, ataxia, mental retardation, oculomotor apraxia, breathing difficulties, and the molar tooth sign on brain imaging, but no liver, renal, or retinal involvement. </p>
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<strong>.0008 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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KIF7, 12-BP DEL, NT3986
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SNP: rs780942335,
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gnomAD: rs780942335,
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ClinVar: RCV000023889, RCV000514978, RCV001852031
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<p>This variant is classified as a variant of unknown significance because its contribution to the phenotype of Joubert syndrome has not been confirmed.</p><p>In a German girl with Joubert syndrome, Dafinger et al. (2011) identified a heterozygous 12-bp deletion (3986del12) in the last KIF7 exon, predicting an in-frame loss of 4 residues in the putative cargo domain. She also had 2 pathogenic missense mutations in the TMEM67 gene (I833T, 609884.0013 and P358L, 609884.0024), consistent with JBTS6 (610688). The patient had mental retardation, molar tooth sign on brain MRI, ataxia, hypertelorism, low-set ears, coloboma, and elevated liver enzymes. </p>
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<span class="mim-font">
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<strong>.0009 AL-GAZALI-BAKALINOVA SYNDROME (1 family)</strong>
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</h4>
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KIF7, ASN1060SER
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SNP: rs886039282,
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ClinVar: RCV000254711
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<p>By whole-exome sequencing in the family described by Al-Gazali and Bakalinova (1998) with Al-Gazali-Bakalinova syndrome (AGBK; 607131), Ali et al. (2012) identified homozygosity for a c.3179A-G transition (c.3179A-G, NM_198525.2) in the KIF7 gene, resulting in an asn1060-to-ser (N1060S) substitution. The mutation segregated with the phenotype in the family and was absent from 188 mixed Omani/UAE ethnically matched controls. The N1060 residue is located after the SMC domain of KIF7 and is absolutely conserved in KIF7 family members. The N1060S variant was not present in the ExAC database (1/21/2016) (Hamosh, 2016). </p>
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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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<p />
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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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Al-Gazali, L. I., Bakalinova, D.
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<strong>Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong>
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Clin. Dysmorph. 7: 177-184, 1998.
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[PubMed: 9689990]
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[Full Text: https://doi.org/10.1097/00019605-199807000-00004]
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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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Ali, B. R., Silhavy, J. L., Akawi, N. A., Gleeson, J. G., Al-Gazali, L.
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<strong>A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.</strong>
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Orphanet J. Rare Dis. 7: 27, 2012. Note: Electronic Article.
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[PubMed: 22587682]
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[Full Text: https://doi.org/10.1186/1750-1172-7-27]
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</p>
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<li>
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<p class="mim-text-font">
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Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J.
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<strong>Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.</strong>
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J. Clin. Invest. 121: 2662-2667, 2011.
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[PubMed: 21633164]
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[Full Text: https://doi.org/10.1172/JCI43639]
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</p>
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<li>
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/21/2016.
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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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He, M., Subramanian, R., Bangs, F., Omelchenko, T., Liem, K. F., Jr., Kapoor, T. M., Anderson, K. V.
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<strong>The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment.</strong>
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Nature Cell Biol. 16: 663-672, 2014.
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[PubMed: 24952464]
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[Full Text: https://doi.org/10.1038/ncb2988]
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<li>
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<p class="mim-text-font">
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Katoh, Y., Katoh, M.
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<strong>Characterization of KIF7 gene in silico.</strong>
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Int. J. Oncol. 25: 1881-1886, 2004.
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[PubMed: 15547730]
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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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Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., and 18 others.
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<strong>CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.</strong>
|
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Nature Genet. 44: 193-199, 2012.
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[PubMed: 22246503]
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[Full Text: https://doi.org/10.1038/ng.1078]
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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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Liem, K. F., Jr., He, M., Ocbina, P. J. R., Anderson, K. V.
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<strong>Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.</strong>
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Proc. Nat. Acad. Sci. 106: 13377-13382, 2009.
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[PubMed: 19666503]
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[Full Text: https://doi.org/10.1073/pnas.0906944106]
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</p>
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<li>
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<p class="mim-text-font">
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Putoux, A., Baas, D., Paschaki, M., Morle, L., Maire, C., Attie-Bitach, T., Thomas, S., Durand, B.
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<strong>Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.</strong>
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Hum. Molec. Genet. 28: 877-887, 2019.
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[PubMed: 30445565]
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[Full Text: https://doi.org/10.1093/hmg/ddy392]
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</p>
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<li>
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<p class="mim-text-font">
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Putoux, A., Thomas, S., Coene, K. L., Davis, E. E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C. L., Elkhartoufi, N., and 27 others.
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<strong>KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.</strong>
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Nature Genet. 43: 601-606, 2011.
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[PubMed: 21552264]
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[Full Text: https://doi.org/10.1038/ng.826]
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</ol>
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Bao Lige - updated : 03/20/2020<br>Bao Lige - updated : 05/15/2019<br>Ada Hamosh - updated : 1/21/2016<br>Cassandra L. Kniffin - updated : 2/1/2012<br>Cassandra L. Kniffin - updated : 8/18/2011<br>Cassandra L. Kniffin - updated : 7/27/2011
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