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Entry
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- *107323 - ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1
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- OMIM
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<p>
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<span class="h4">*107323</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="#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/107323">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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<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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000164904;t=ENST00000409134" 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=501" 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=107323" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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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=ENSG00000164904;t=ENST00000409134" 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_001182,NM_001201377,NM_001202404" 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_001182" 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=107323" 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 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=00124&isoform_id=00124_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/ALDH7A1" 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/797410,2352296,47938214,49117277,119569236,127796373,188035924,189065527,194380572,194386892,308219276,319655561,982742419,1812588810" 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/P49419" 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=501" 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=ENSG00000164904;t=ENST00000409134" 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=ALDH7A1" 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=ALDH7A1" 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+501" 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/ALDH7A1" 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:501" 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/501" 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=chr5&hgg_gene=ENST00000409134.8&hgg_start=126541841&hgg_end=126595219&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/genes/HGNC:877" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/aldh7a1" 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=107323[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 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=107323[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/ALDH7A1/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/ENSG00000164904" 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=ALDH7A1" 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=ALDH7A1" 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=ALDH7A1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.bh4.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ALDH7A1&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/PA24704" 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:877" 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/FBgn0036857.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:108186" 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/ALDH7A1#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:108186" 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/501/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=501" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00000115;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-6129" 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:501" 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=ALDH7A1&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> 734434007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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107323
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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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ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ANTIQUITIN; ATQ1<br />
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ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE<br />
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ALPHA-AASA DEHYDROGENASE<br />
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AASA DEHYDROGENASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALDH7A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALDH7A1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/5/406?start=-3&limit=10&highlight=406">5q23.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:126541841-126595219&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'})">5:126,541,841-126,595,219</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/5/406?start=-3&limit=10&highlight=406">
|
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5q23.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Epilepsy, early-onset, 4, vitamin B6-dependent
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/266100"> 266100 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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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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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/107323" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/107323" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<p>The ALDH7A1 gene encodes an aldehyde dehydrogenase. <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> determined that the protein is an alpha-aminoadipic semialdehyde dehydrogenase in the pipecolic acid pathway of lysine catabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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 screening a rat mucosa cDNA subtraction library, <a href="#3" class="mim-tip-reference" title="Lee, P., Kuhl, W., Gelbart, T., Kamimura, T., West, C., Beutler, E. <strong>Homology between a human protein and a protein of the green garden pea.</strong> Genomics 21: 371-378, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088832</a>] [<a href="https://doi.org/10.1006/geno.1994.1279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088832">Lee et al. (1994)</a> found a clone that exhibited a remarkable degree of homology with a previously described cDNA from the green garden pea, designated the 26g pea turgor protein. They obtained a partial cDNA from rat and a complete cDNA from human. The deduced human protein has a molecular mass of 55 kD and was designated antiquitin (ATQ1) because of its remarkable level of conservation through evolution. Human antiquitin is 60% homologous to the green pea 26g. Analysis of mRNA indicated that the largest amounts were found in rat kidney and liver and in cultured human hepatoma cells. Only minimal amounts were detected in human peripheral blood leukocytes, rat lung, or cultured human fibroblasts. Attempts to induce the mRNA by heat-shock, dehydration, ionizing irradiation, or treatment with iron, t-butylhydroperoxide, or glucocorticoids were unsuccessful. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088832" 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>To identify genes involving hearing and deafness, <a href="#8" class="mim-tip-reference" title="Skvorak, A. B., Robertson, N. G., Yin, Y., Weremowicz, S., Her, H., Bieber, F. R., Beisel, K. W., Lynch, E. D., Beier, D. R., Morton, C. C. <strong>An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).</strong> Genomics 46: 191-199, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9417906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9417906</a>] [<a href="https://doi.org/10.1006/geno.1997.5026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9417906">Skvorak et al. (1997)</a> constructed and screened a human fetal cochlear cDNA library. From this library they isolated a cDNA corresponding to ATQ1. The plant homolog of ATQ1 was thought to be involved in regulating turgor pressure, a function that also would be essential for cells of the mammalian cochlea. Northern blots of 13 human fetal tissues showed antiquitin to be highly expressed in cochlea, ovary, eye, heart, and kidney. Using RT-PCR of rat cochlear hair cell-specific cDNA libraries, <a href="#8" class="mim-tip-reference" title="Skvorak, A. B., Robertson, N. G., Yin, Y., Weremowicz, S., Her, H., Bieber, F. R., Beisel, K. W., Lynch, E. D., Beier, D. R., Morton, C. C. <strong>An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).</strong> Genomics 46: 191-199, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9417906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9417906</a>] [<a href="https://doi.org/10.1006/geno.1997.5026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9417906">Skvorak et al. (1997)</a> detected antiquitin expression in outer hair cells, but not in inner or vestibular type 1 hair cells, suggesting that antiquitin is not expressed ubiquitously in the cochlea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9417906" 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>The ALDH7A1 gene encodes a 510-amino acid protein (<a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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>The ALDH7A1 gene contains 18 exons (<a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using fluorescence in situ hybridization, <a href="#8" class="mim-tip-reference" title="Skvorak, A. B., Robertson, N. G., Yin, Y., Weremowicz, S., Her, H., Bieber, F. R., Beisel, K. W., Lynch, E. D., Beier, D. R., Morton, C. C. <strong>An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).</strong> Genomics 46: 191-199, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9417906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9417906</a>] [<a href="https://doi.org/10.1006/geno.1997.5026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9417906">Skvorak et al. (1997)</a> mapped the human ALDH7A1 gene to chromosome 5q31. The mouse homolog was mapped to mouse chromosome 18 by SSCP mapping of interspecific backcross progeny DNAs. Four human antiquitin-like sequences, possibly pseudogenes, were also identified and mapped. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9417906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), also known as pyridoxine-dependent epilepsy (EPD), <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified homozygous or compound heterozygous mutations in the ALDH7A1 gene (<a href="#0001">107323.0001</a>-<a href="#0007">107323.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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="#6" class="mim-tip-reference" title="Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. <strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong> Hum. Mutat. 28: 19-26, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>] [<a href="https://doi.org/10.1002/humu.20433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17068770">Plecko et al. (2007)</a> investigated 18 patients with neonatal seizure onset who had been classified as having definite (11), probable (4), or possible (3) pyridoxine-dependent epilepsy. All patients had elevated pipecolic acid (PA) and alpha-amino adipic semialdehyde (AASA) in plasma and urine while on treatment with individual dosages of pyridoxine. Within this cohort, molecular analysis identified 10 novel mutations (6 missense mutations, 1 nonsense mutation, 2 splice site mutations) within highly conserved regions of the antiquitin gene. Seven mutations were located in exonic sequences and 2 in introns 7 and 17. A novel deletion of exon 7 was identified also. The E399Q mutation (<a href="#0001">107323.0001</a>) was found with marked prevalence, accounting for 12 of 36 alleles (33%) in this study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C. <strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong> Ann. Neurol. 62: 414-418, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>] [<a href="https://doi.org/10.1002/ana.21206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721876">Salomons et al. (2007)</a> identified a homozygous E399Q mutation in the ALDH7A1 gene in 7 patients from 4 apparently unrelated Dutch families with pyridoxine-dependent epilepsy (<a href="#1" class="mim-tip-reference" title="Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O. <strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong> Arch. Dis. Child. 90: 1293-1296, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159904</a>] [<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159904">Been et al., 2005</a>; <a href="#2" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17721876+16159904+17088338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using CRISPR/Cas9 gene editing, <a href="#5" class="mim-tip-reference" title="Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A. <strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong> Genetics 207: 1501-1518, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29061647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29061647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29061647[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/10.1534/genetics.117.300137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29061647">Pena et al. (2017)</a> generated an aldh7a1-null zebrafish model that recapitulated the clinical and biochemical features of EPD. Beginning at 10 days postfertilization, mutant larvae displayed features consistent with an epilepsy phenotype, including spontaneous and recurrent seizures, epileptoform electrographic activity, and early death. Treatment with pyridoxine and pyridoxal 5-prime phosphate (PLP) extended life span in mutant larvae, and pyridoxine treatment also alleviated the manifestation of seizures. Mass spectrometry revealed accumulation of EPD biomarkers, including AASA and piperideine-6-carboxylate (P6C), B6 vitamin deficiency, and low gamma-aminobutyric acid levels in mutant fish, indicating that the ablation of aldh7a1 disrupted lysine degradation. Lysine supplementation aggravated the epilepsy phenotype in mutant larvae, inducing earlier seizure onset and death. Combination supplementation with pyridoxine and lysine suggested the existence of a critical 'seizure-inducing' level for AASA/P6C that was reached more rapidly with lysine supplementation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29061647" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>9 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=107323[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912707 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912707;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/rs121912707?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=rs121912707" 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=rs121912707" 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=RCV000019610 OR RCV000186744 OR RCV000718443 OR RCV002227440" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019610, RCV000186744, RCV000718443, RCV002227440" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019610...</a>
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<p>In an Austrian child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous 1195G-C transversion in exon 14 of the ALDH7A1 gene, resulting in a glu399-to-gln (E399Q) substitution. Another affected child of Dutch descent was compound heterozygous for E399Q and R82X (<a href="#0002">107323.0002</a>). In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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 study by <a href="#6" class="mim-tip-reference" title="Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. <strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong> Hum. Mutat. 28: 19-26, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>] [<a href="https://doi.org/10.1002/humu.20433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17068770">Plecko et al. (2007)</a> involving 18 patients with neonatal seizure onset, the E399Q mutation accounted for 12 of 36 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C. <strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong> Ann. Neurol. 62: 414-418, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>] [<a href="https://doi.org/10.1002/ana.21206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721876">Salomons et al. (2007)</a> identified a homozygous E399Q mutation in 7 Dutch patients from 4 apparently unrelated families with pyridoxine-dependent epilepsy. The patients had previously been reported by <a href="#1" class="mim-tip-reference" title="Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O. <strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong> Arch. Dis. Child. 90: 1293-1296, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16159904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16159904</a>] [<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16159904">Been et al. (2005)</a> and <a href="#2" class="mim-tip-reference" title="Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C. <strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong> Arch. Dis. Child. 92: 687-689, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>] [<a href="https://doi.org/10.1136/adc.2006.103192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088338">Bok et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17721876+16159904+17088338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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ALDH7A1, ARG82TER
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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> rs121912708 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912708;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/rs121912708?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=rs121912708" 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=rs121912708" 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=RCV000019611 OR RCV000415171 OR RCV000480396 OR RCV002251913 OR RCV002444436" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019611, RCV000415171, RCV000480396, RCV002251913, RCV002444436" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019611...</a>
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<p>In a Bosnian child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who was born of consanguineous parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous C-to-T transition in exon 4 of the ALDH7A1 gene, resulting in an arg82-to-ter (R82X) substitution. Another affected child of Dutch descent was compound heterozygous for R82X and E399Q (<a href="#0001">107323.0001</a>). In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs779494572 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs779494572;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/rs779494572?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=rs779494572" 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=rs779494572" 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=RCV000019612 OR RCV004584333" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019612, RCV004584333" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019612...</a>
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<p>In a dizygotic twin brother and sister with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who were born of consanguineous Turkish parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous 434G-C transversion in the ALDH7A1 gene, resulting in a splice site mutation (IVS5-1G-C) that would skip exon 6 and a protein lacking residues 145 to 189. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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">rs1561672504 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1561672504;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=rs1561672504" 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=rs1561672504" 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=RCV000019613" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019613" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019613</a>
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<p>In 2 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who were born of consanguineous Arab parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous 228T-A transversion in the ALDH7A1 gene, resulting in a splice site mutation (IVS3DS+2T-A). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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">rs121912709 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912709;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=rs121912709" 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=rs121912709" 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=RCV000019614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019614</a>
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<p>In a child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who was born of consanguineous Turkish parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous C-to-T transition in exon 6 of the ALDH7A1 gene, resulting in an ala171-to-val (A171V) substitution. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906574;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/rs387906574?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=rs387906574" 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=rs387906574" 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=RCV000019615 OR RCV001092771 OR RCV001814003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019615, RCV001092771, RCV001814003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019615...</a>
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<p>In 2 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who were born of consanguineous Turkish parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous 1-bp deletion (1512delG) in exon 18 of the ALDH7A1 gene, resulting in a change in the last 7 amino acid residues of the protein and extension of the C terminus by 10 residues. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912710 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912710;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/rs121912710?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=rs121912710" 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=rs121912710" 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=RCV000019616 OR RCV000255947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019616, RCV000255947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019616...</a>
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<p>In 3 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), who were born of consanguineous Asian parents, <a href="#4" class="mim-tip-reference" title="Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T. <strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong> Nature Med. 12: 307-309, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>] [<a href="https://doi.org/10.1038/nm1366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16491085">Mills et al. (2006)</a> identified a homozygous T-to-G transversion in exon 14 of the ALDH7A1 gene, resulting in a tyr380-to-ter (Y380X) substitution. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had activity that was about 1.8% of control values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912711 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912711;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/rs121912711?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=rs121912711" 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=rs121912711" 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=RCV000019617 OR RCV001582488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019617, RCV001582488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019617...</a>
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<p><a href="#6" class="mim-tip-reference" title="Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. <strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong> Hum. Mutat. 28: 19-26, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>] [<a href="https://doi.org/10.1002/humu.20433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17068770">Plecko et al. (2007)</a> described a patient with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>) and compound heterozygosity for mutations in the ALDH7A1 gene, a glu339-to-gln mutation (<a href="#0001">107323.0001</a>) and an 818A-T transversion in exon 10 that resulted in an asn273-to-ile substitution (N273I). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201948406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201948406;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/rs201948406?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=rs201948406" 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=rs201948406" 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=RCV000019618 OR RCV000255917 OR RCV002433461 OR RCV004755743" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019618, RCV000255917, RCV002433461, RCV004755743" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019618...</a>
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<p>In a Dutch patient with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; <a href="/entry/266100">266100</a>), <a href="#7" class="mim-tip-reference" title="Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C. <strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong> Ann. Neurol. 62: 414-418, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>] [<a href="https://doi.org/10.1002/ana.21206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721876">Salomons et al. (2007)</a> identified a homozygous 750G-A transition within a cryptic donor splice site 40 nucleotides upstream of the authentic splice site of intron 9 of the ALDH7A1 gene. RNA analysis showed that the cryptic site was preferentially used in the patient. In contrast, both parents who were heterozygous for the mutation showed only the presence of properly spliced mRNA, suggesting nonsense-mediated decay of the cryptic site transcript. The 750G-A mutation was shown to result in a deletion of the last 40 nucleotides of exon 9, resulting in a frameshift and premature termination. The patient also showed low levels (9%) of normally spliced ALDH7A1 transcripts, which may have accounted for slightly lower urinary and plasma AASA compared to other patients. The mutation was not detected in 210 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1136/adc.2005.075069" target="_blank">Full Text</a>]
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Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C.
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<strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17088338" 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/10.1136/adc.2006.103192" target="_blank">Full Text</a>]
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Lee, P., Kuhl, W., Gelbart, T., Kamimura, T., West, C., Beutler, E.
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<strong>Homology between a human protein and a protein of the green garden pea.</strong>
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Genomics 21: 371-378, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088832" 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/10.1006/geno.1994.1279" target="_blank">Full Text</a>]
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Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T.
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<strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong>
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Nature Med. 12: 307-309, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16491085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16491085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16491085" 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/nm1366" target="_blank">Full Text</a>]
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Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A.
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<strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong>
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Genetics 207: 1501-1518, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29061647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29061647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29061647[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=29061647" 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/10.1534/genetics.117.300137" target="_blank">Full Text</a>]
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Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W.
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<strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong>
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Hum. Mutat. 28: 19-26, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17068770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17068770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17068770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20433" target="_blank">Full Text</a>]
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Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C.
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<strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong>
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Ann. Neurol. 62: 414-418, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21206" target="_blank">Full Text</a>]
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Skvorak, A. B., Robertson, N. G., Yin, Y., Weremowicz, S., Her, H., Bieber, F. R., Beisel, K. W., Lynch, E. D., Beier, D. R., Morton, C. C.
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<strong>An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).</strong>
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Genomics 46: 191-199, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9417906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9417906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9417906" 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/10.1006/geno.1997.5026" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/24/2023
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Jane A. Welch - updated : 02/02/2018<br>Cassandra L. Kniffin - updated : 3/21/2008<br>Victor A. McKusick - updated : 3/12/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Victor A. McKusick - updated : 2/4/1998
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Victor A. McKusick : 6/17/1994
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carol : 10/24/2023
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mgross : 02/02/2018<br>mgross : 02/02/2018<br>mgross : 02/02/2018<br>carol : 12/22/2017<br>wwang : 03/31/2008<br>ckniffin : 3/21/2008<br>alopez : 8/28/2007<br>terry : 8/16/2007<br>wwang : 3/27/2007<br>alopez : 3/21/2007<br>terry : 3/12/2007<br>wwang : 1/2/2007<br>ckniffin : 12/21/2006<br>carol : 4/3/2001<br>mark : 2/9/1998<br>terry : 2/4/1998<br>carol : 6/20/1994<br>jason : 6/17/1994
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ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1
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ANTIQUITIN; ATQ1<br />
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ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE<br />
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ALPHA-AASA DEHYDROGENASE<br />
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AASA DEHYDROGENASE
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<strong><em>HGNC Approved Gene Symbol: ALDH7A1</em></strong>
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<strong>SNOMEDCT:</strong> 734434007;
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Cytogenetic location: 5q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:126,541,841-126,595,219 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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5q23.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Epilepsy, early-onset, 4, vitamin B6-dependent
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</span>
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</td>
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<td>
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<span class="mim-font">
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266100
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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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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<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 ALDH7A1 gene encodes an aldehyde dehydrogenase. Mills et al. (2006) determined that the protein is an alpha-aminoadipic semialdehyde dehydrogenase in the pipecolic acid pathway of lysine catabolism. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In screening a rat mucosa cDNA subtraction library, Lee et al. (1994) found a clone that exhibited a remarkable degree of homology with a previously described cDNA from the green garden pea, designated the 26g pea turgor protein. They obtained a partial cDNA from rat and a complete cDNA from human. The deduced human protein has a molecular mass of 55 kD and was designated antiquitin (ATQ1) because of its remarkable level of conservation through evolution. Human antiquitin is 60% homologous to the green pea 26g. Analysis of mRNA indicated that the largest amounts were found in rat kidney and liver and in cultured human hepatoma cells. Only minimal amounts were detected in human peripheral blood leukocytes, rat lung, or cultured human fibroblasts. Attempts to induce the mRNA by heat-shock, dehydration, ionizing irradiation, or treatment with iron, t-butylhydroperoxide, or glucocorticoids were unsuccessful. </p><p>To identify genes involving hearing and deafness, Skvorak et al. (1997) constructed and screened a human fetal cochlear cDNA library. From this library they isolated a cDNA corresponding to ATQ1. The plant homolog of ATQ1 was thought to be involved in regulating turgor pressure, a function that also would be essential for cells of the mammalian cochlea. Northern blots of 13 human fetal tissues showed antiquitin to be highly expressed in cochlea, ovary, eye, heart, and kidney. Using RT-PCR of rat cochlear hair cell-specific cDNA libraries, Skvorak et al. (1997) detected antiquitin expression in outer hair cells, but not in inner or vestibular type 1 hair cells, suggesting that antiquitin is not expressed ubiquitously in the cochlea. </p><p>The ALDH7A1 gene encodes a 510-amino acid protein (Mills et al., 2006). </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>The ALDH7A1 gene contains 18 exons (Mills et al., 2006). </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>Using fluorescence in situ hybridization, Skvorak et al. (1997) mapped the human ALDH7A1 gene to chromosome 5q31. The mouse homolog was mapped to mouse chromosome 18 by SSCP mapping of interspecific backcross progeny DNAs. Four human antiquitin-like sequences, possibly pseudogenes, were also identified and mapped. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In patients with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), also known as pyridoxine-dependent epilepsy (EPD), Mills et al. (2006) identified homozygous or compound heterozygous mutations in the ALDH7A1 gene (107323.0001-107323.0007). </p><p>Plecko et al. (2007) investigated 18 patients with neonatal seizure onset who had been classified as having definite (11), probable (4), or possible (3) pyridoxine-dependent epilepsy. All patients had elevated pipecolic acid (PA) and alpha-amino adipic semialdehyde (AASA) in plasma and urine while on treatment with individual dosages of pyridoxine. Within this cohort, molecular analysis identified 10 novel mutations (6 missense mutations, 1 nonsense mutation, 2 splice site mutations) within highly conserved regions of the antiquitin gene. Seven mutations were located in exonic sequences and 2 in introns 7 and 17. A novel deletion of exon 7 was identified also. The E399Q mutation (107323.0001) was found with marked prevalence, accounting for 12 of 36 alleles (33%) in this study. </p><p>Salomons et al. (2007) identified a homozygous E399Q mutation in the ALDH7A1 gene in 7 patients from 4 apparently unrelated Dutch families with pyridoxine-dependent epilepsy (Been et al., 2005; Bok et al., 2007). </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>Using CRISPR/Cas9 gene editing, Pena et al. (2017) generated an aldh7a1-null zebrafish model that recapitulated the clinical and biochemical features of EPD. Beginning at 10 days postfertilization, mutant larvae displayed features consistent with an epilepsy phenotype, including spontaneous and recurrent seizures, epileptoform electrographic activity, and early death. Treatment with pyridoxine and pyridoxal 5-prime phosphate (PLP) extended life span in mutant larvae, and pyridoxine treatment also alleviated the manifestation of seizures. Mass spectrometry revealed accumulation of EPD biomarkers, including AASA and piperideine-6-carboxylate (P6C), B6 vitamin deficiency, and low gamma-aminobutyric acid levels in mutant fish, indicating that the ablation of aldh7a1 disrupted lysine degradation. Lysine supplementation aggravated the epilepsy phenotype in mutant larvae, inducing earlier seizure onset and death. Combination supplementation with pyridoxine and lysine suggested the existence of a critical 'seizure-inducing' level for AASA/P6C that was reached more rapidly with lysine supplementation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, GLU399GLN
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<br />
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SNP: rs121912707,
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gnomAD: rs121912707,
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ClinVar: RCV000019610, RCV000186744, RCV000718443, RCV002227440
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Austrian child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), Mills et al. (2006) identified a homozygous 1195G-C transversion in exon 14 of the ALDH7A1 gene, resulting in a glu399-to-gln (E399Q) substitution. Another affected child of Dutch descent was compound heterozygous for E399Q and R82X (107323.0002). In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. </p><p>In a study by Plecko et al. (2007) involving 18 patients with neonatal seizure onset, the E399Q mutation accounted for 12 of 36 alleles. </p><p>Salomons et al. (2007) identified a homozygous E399Q mutation in 7 Dutch patients from 4 apparently unrelated families with pyridoxine-dependent epilepsy. The patients had previously been reported by Been et al. (2005) and Bok et al. (2007). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, ARG82TER
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<br />
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SNP: rs121912708,
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gnomAD: rs121912708,
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ClinVar: RCV000019611, RCV000415171, RCV000480396, RCV002251913, RCV002444436
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Bosnian child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who was born of consanguineous parents, Mills et al. (2006) identified a homozygous C-to-T transition in exon 4 of the ALDH7A1 gene, resulting in an arg82-to-ter (R82X) substitution. Another affected child of Dutch descent was compound heterozygous for R82X and E399Q (107323.0001). In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, IVS5AS, G-C, -1
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<br />
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SNP: rs779494572,
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gnomAD: rs779494572,
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ClinVar: RCV000019612, RCV004584333
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a dizygotic twin brother and sister with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who were born of consanguineous Turkish parents, Mills et al. (2006) identified a homozygous 434G-C transversion in the ALDH7A1 gene, resulting in a splice site mutation (IVS5-1G-C) that would skip exon 6 and a protein lacking residues 145 to 189. </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>.0004 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, IVS3DS, T-A, +2
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<br />
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SNP: rs1561672504,
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ClinVar: RCV000019613
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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 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who were born of consanguineous Arab parents, Mills et al. (2006) identified a homozygous 228T-A transversion in the ALDH7A1 gene, resulting in a splice site mutation (IVS3DS+2T-A). </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 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, ALA171VAL
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<br />
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SNP: rs121912709,
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ClinVar: RCV000019614
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In a child with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who was born of consanguineous Turkish parents, Mills et al. (2006) identified a homozygous C-to-T transition in exon 6 of the ALDH7A1 gene, resulting in an ala171-to-val (A171V) substitution. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</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>.0006 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, 1-BP DEL, 1512G
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<br />
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SNP: rs387906574,
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gnomAD: rs387906574,
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ClinVar: RCV000019615, RCV001092771, RCV001814003
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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 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who were born of consanguineous Turkish parents, Mills et al. (2006) identified a homozygous 1-bp deletion (1512delG) in exon 18 of the ALDH7A1 gene, resulting in a change in the last 7 amino acid residues of the protein and extension of the C terminus by 10 residues. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had no detectable activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</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 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, TYR380TER
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<br />
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SNP: rs121912710,
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gnomAD: rs121912710,
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ClinVar: RCV000019616, RCV000255947
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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 3 sibs with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), who were born of consanguineous Asian parents, Mills et al. (2006) identified a homozygous T-to-G transversion in exon 14 of the ALDH7A1 gene, resulting in a tyr380-to-ter (Y380X) substitution. In vitro functional expression studies in Chinese hamster ovary cells showed that the mutant enzyme had activity that was about 1.8% of control values. </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>.0008 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</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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ALDH7A1, ASN273ILE
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<br />
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SNP: rs121912711,
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gnomAD: rs121912711,
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ClinVar: RCV000019617, RCV001582488
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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>Plecko et al. (2007) described a patient with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100) and compound heterozygosity for mutations in the ALDH7A1 gene, a glu339-to-gln mutation (107323.0001) and an 818A-T transversion in exon 10 that resulted in an asn273-to-ile substitution (N273I). </p>
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<span class="mim-font">
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<strong>.0009 EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT</strong>
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ALDH7A1, 750G-A
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SNP: rs201948406,
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gnomAD: rs201948406,
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ClinVar: RCV000019618, RCV000255917, RCV002433461, RCV004755743
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<p>In a Dutch patient with early-onset vitamin B6-dependent epilepsy-4 (EPEO4; 266100), Salomons et al. (2007) identified a homozygous 750G-A transition within a cryptic donor splice site 40 nucleotides upstream of the authentic splice site of intron 9 of the ALDH7A1 gene. RNA analysis showed that the cryptic site was preferentially used in the patient. In contrast, both parents who were heterozygous for the mutation showed only the presence of properly spliced mRNA, suggesting nonsense-mediated decay of the cryptic site transcript. The 750G-A mutation was shown to result in a deletion of the last 40 nucleotides of exon 9, resulting in a frameshift and premature termination. The patient also showed low levels (9%) of normally spliced ALDH7A1 transcripts, which may have accounted for slightly lower urinary and plasma AASA compared to other patients. The mutation was not detected in 210 control chromosomes. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Been, J. V., Bok, L. A., Andriessen, P., Renier, W. O.
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<strong>Epidemiology of pyridoxine dependent seizures in the Netherlands.</strong>
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Arch. Dis. Child. 90: 1293-1296, 2005.
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[PubMed: 16159904]
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[Full Text: https://doi.org/10.1136/adc.2005.075069]
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Bok, L. A., Struys, E., Willemsen, M. A. A. P., Been, J. V., Jakobs, C.
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<strong>Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.</strong>
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Arch. Dis. Child. 92: 687-689, 2007.
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[PubMed: 17088338]
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[Full Text: https://doi.org/10.1136/adc.2006.103192]
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Lee, P., Kuhl, W., Gelbart, T., Kamimura, T., West, C., Beutler, E.
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<strong>Homology between a human protein and a protein of the green garden pea.</strong>
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Genomics 21: 371-378, 1994.
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[PubMed: 8088832]
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[Full Text: https://doi.org/10.1006/geno.1994.1279]
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Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P. T.
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<strong>Mutations in antiquitin in individuals with pyridoxine-dependent seizures.</strong>
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Nature Med. 12: 307-309, 2006.
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[PubMed: 16491085]
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[Full Text: https://doi.org/10.1038/nm1366]
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</li>
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<li>
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Pena, I. A., Roussel, Y., Daniel, K., Mongeon, K., Johnstone, D., Weinschutz Mendes, H., Bosma, M., Saxena, V., Lepage, N., Chakraborty, P., Dyment, D. A., van Karnebeek, C. D. M., Verhoeven-Duif, N., Bui, T. V., Boycott, K. M., Ekker, M., MacKenzie, A.
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<strong>Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency.</strong>
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Genetics 207: 1501-1518, 2017.
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[PubMed: 29061647]
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[Full Text: https://doi.org/10.1534/genetics.117.300137]
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</li>
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<li>
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<p class="mim-text-font">
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Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W.
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<strong>Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.</strong>
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Hum. Mutat. 28: 19-26, 2007.
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[PubMed: 17068770]
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[Full Text: https://doi.org/10.1002/humu.20433]
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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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Salomons, G. S., Bok, L. A., Struys, E. A., Pope, L. L., Darmin, P. S., Mills, P. B., Clayton, P. T., Willemsen, M. A., Jakobs, C.
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<strong>An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).</strong>
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Ann. Neurol. 62: 414-418, 2007.
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[PubMed: 17721876]
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[Full Text: https://doi.org/10.1002/ana.21206]
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Skvorak, A. B., Robertson, N. G., Yin, Y., Weremowicz, S., Her, H., Bieber, F. R., Beisel, K. W., Lynch, E. D., Beier, D. R., Morton, C. C.
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<strong>An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).</strong>
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Genomics 46: 191-199, 1997.
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[PubMed: 9417906]
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[Full Text: https://doi.org/10.1006/geno.1997.5026]
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Cassandra L. Kniffin - updated : 10/24/2023<br>Jane A. Welch - updated : 02/02/2018<br>Cassandra L. Kniffin - updated : 3/21/2008<br>Victor A. McKusick - updated : 3/12/2007<br>Cassandra L. Kniffin - updated : 12/21/2006<br>Victor A. McKusick - updated : 2/4/1998
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Victor A. McKusick : 6/17/1994
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carol : 10/24/2023<br>mgross : 02/02/2018<br>mgross : 02/02/2018<br>mgross : 02/02/2018<br>carol : 12/22/2017<br>wwang : 03/31/2008<br>ckniffin : 3/21/2008<br>alopez : 8/28/2007<br>terry : 8/16/2007<br>wwang : 3/27/2007<br>alopez : 3/21/2007<br>terry : 3/12/2007<br>wwang : 1/2/2007<br>ckniffin : 12/21/2006<br>carol : 4/3/2001<br>mark : 2/9/1998<br>terry : 2/4/1998<br>carol : 6/20/1994<br>jason : 6/17/1994
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