6168 lines
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Entry
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- *606999 - GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606999</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/606999">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000213930;t=ENST00000378842" 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=2592" 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=606999" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000213930;t=ENST00000378842" 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_000155,NM_001258332" 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_000155" 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=606999" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06106&isoform_id=06106_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/GALT" 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/182951,306759,950351,950353,950355,950357,950359,950361,950363,950365,950367,950369,950371,950373,950375,950377,950379,950381,950383,950385,950387,950389,950391,950393,950395,950397,950399,950401,950403,950405,950407,950409,1066733,1066737,1066739,1066741,1066743,1066745,1066747,1066749,1066751,1066753,3183522,12000351,15929186,21755411,22165416,32880047,119578830,119578831,119578832,119578833,119578834,189067273,193788325,194375614,194381980,194390224,226316682,253981824,256260521,256260523,256260525,259558823,259558836,264669719,264669721,313105480,334306080,385251404,957949465,957949468,2242598988" 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/P07902" 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=2592" 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=ENSG00000213930;t=ENST00000378842" 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=GALT" 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=GALT" 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+2592" 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/GALT" 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:2592" 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/2592" 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=chr9&hgg_gene=ENST00000556278.1&hgg_start=34646675&hgg_end=34651035&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4135" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4135" 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/galt" 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=606999[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div 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=606999[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://gnomad.broadinstitute.org/gene/ENSG00000213930" 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=GALT" 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=GALT" 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=GALT" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://arup.utah.edu/database/GALT/GALT_welcome.php" title="Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Galactose-1-Phosphate Urid…</a></div><div style="margin-left: 0.5em;"><a href="http://www.ich.bris.ac.uk/galtdb/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Galactosaemia</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GALT&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/PA28548" 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:4135" 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/FBgn0263200.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:95638" 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/GALT#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:95638" 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/2592/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://omia.org/OMIA001144/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2592" 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=WBGene00014203;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-070112-172" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:606999" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:2592" 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=GALT&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> 124354006, 398664009<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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606999
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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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GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=GALT" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GALT</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/9/153?start=-3&limit=10&highlight=153">9p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:34646675-34651035&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'})">9:34,646,675-34,651,035</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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9p13.3
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<a href="/entry/230400"> 230400 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/606999" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606999" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Galactose-1-phosphate uridylyltransferase (GALT; <a href="https://enzyme.expasy.org/EC/2.7.7.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.7.12</a>) is the second enzyme in the evolutionarily conserved galactose metabolic pathway. It facilitates the simultaneous conversion of uridine diphosphoglucose and galactose-1-phosphate to uridine diphosphogalactose and glucose-1-phosphate, respectively (summary by <a href="#50" class="mim-tip-reference" title="Tang, M., Siddiqi, A., Witt, B., Yuzyuk, T., Johnson, B., Fraser, N., Chen, W., Rascon, R., Yin, X., Goli, H., Bodamer, O. A., Lai, K. <strong>Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model.</strong> Europ. J. Hum. Genet. 22: 1172-1179, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24549051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24549051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24549051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24549051">Tang et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24549051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#32" class="mim-tip-reference" title="Reichardt, J. K. V., Berg, P. <strong>Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong> Molec. Biol. Med. 5: 107-122, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840550</a>]" pmid="2840550">Reichardt and Berg (1988)</a> used short peptide sequences conserved between E. coli and yeast to isolate a human GALT cDNA clone. The deduced 379-amino acid protein has a molecular mass of approximately 43 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2840550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>GALT/IL11RA Spliced Read-Through Transcript</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Magrangeas, F., Pitiot, G., Dubois, S., Bragado-Nilsson, E., Cherel, M., Jobert, S., Lebeau, B., Boisteau, O., Lethe, B., Mallet, J., Jacques, Y., Minvielle, S. <strong>Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells: implication for the production of multidomain proteins during evolution.</strong> J. Biol. Chem. 273: 16005-16010, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632650</a>] [<a href="https://doi.org/10.1074/jbc.273.26.16005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9632650">Magrangeas et al. (1998)</a> established the existence of poly(A) site choice and fusion splicing of 2 adjacent genes, encoding galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain (IL11RA; <a href="/entry/600939">600939</a>), in normal human cells. This 16-kb transcription unit contains 2 promoters (the first one constitutive, and the second, 8 kb downstream, highly regulated) and 2 cleavage/polyadenylation signals separated by 12 kb. The promoter from the GALT gene yields 2 mRNAs, a 1.4-kb mRNA encoding GALT and a 3-kb fusion mRNA when the first poly(A) site is spliced out and the second poly(A) site is used. The 3-kb mRNA codes for a fusion protein containing part of the GALT protein and the entire IL11RA protein. The GALT promoter/IL11RA poly(A) transcript results from leaky termination and alternative splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9632650" 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>Mapping</strong>
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<p>By gene dosage studies, <a href="#1" class="mim-tip-reference" title="Aitken, D. A., Ferguson-Smith, M. A. <strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong> Cytogenet. Cell Genet. 25: 131, 1979."None>Aitken and Ferguson-Smith (1979)</a> assigned the structural gene for GALT to the short arm of chromosome 9. Shih et al. (<a href="#41" class="mim-tip-reference" title="Shih, L. Y., Rosin, I., Suslak, L., Searle, B., Desposito, F. <strong>Localization of the structural gene for galactose-1-phosphate uridyl transferase to band p13 of chromosome 9 by gene dosage studies. (Abstract)</strong> Am. J. Hum. Genet. 34: 62A, 1982."None>1982</a>, <a href="#42" class="mim-tip-reference" title="Shih, L. Y., Suslak, L., Rosin, I., Searle, B. M., Desposito, F. <strong>Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.</strong> Am. J. Med. Genet. 19: 539-543, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6095663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6095663</a>] [<a href="https://doi.org/10.1002/ajmg.1320190316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6095663">1984</a>) assigned the GALT locus to 9p13 by gene dosage. By deletion mapping, <a href="#16" class="mim-tip-reference" title="Kondo, I., Nakamura, N. <strong>Regional mapping of GALT in the short arm of chromosome 9. (Abstract)</strong> Cytogenet. Cell Genet. 37: 514, 1984."None>Kondo and Nakamura (1984)</a> corroborated the 9p13 localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6095663" 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 a patient with classic galactosemia, or galactosemia I (GALAC1; <a href="/entry/230400">230400</a>), Reichardt and Woo (<a href="#36" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Missense mutations in galactosemia. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A164, 1990."None>1990</a>, <a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">1991</a>) found a methionine-to-lysine change at codon 142 of the GALT gene, which resulted in reduction of the specific activity of the mutated protein to about 4% of normal (<a href="#0001">606999.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011574" 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 Duarte polymorphism was identified by <a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">Reichardt and Woo (1991)</a>, who pointed out that the galactosemia mutations tend to occur in regions of the gene that are highly conserved throughout evolution whereas the polymorphisms change variable residues. <a href="#7" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> presented evidence that the N314D substitution, a 940A-G transition in exon 10 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070074;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070074</a>; <a href="#0005">606999.0005</a>), is a common allele that causes the Duarte GALT biochemical phenotype of reduced enzyme activity, known as the 'D2' variant. <a href="#7" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> found that the N314D substitution occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. When found in cis with a silent mutation, L218L (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070075;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070075</a>; <a href="#0012">606999.0012</a>), the Duarte allele N314D causes increased enzyme activity, known as the 'Los Angeles' or 'D1' variant. Subsequently, <a href="#17" class="mim-tip-reference" title="Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J. <strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong> J. Med. Genet. 36: 576-578, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424825</a>]" pmid="10424825">Kozak et al. (1999)</a> showed that a 4-bp deletion (-119delGTCA; <a href="#0017">606999.0017</a>) in the 5-prime region of the GALT gene was linked with the Duarte allele and conferred reduced enzymatic activity. <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> showed that the 5-prime 4-bp deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2011574+10424825+19224951+8198125" 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 Japan, where classic galactosemia is thought to be only one-twentieth as frequent as it is in Caucasian populations of the United States, <a href="#3" class="mim-tip-reference" title="Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G. <strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong> Hum. Mutat. 6: 36-43, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550229</a>] [<a href="https://doi.org/10.1002/humu.1380060108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550229">Ashino et al. (1995)</a> reported 2 novel GALT mutations in 2 Japanese patients with GALT deficiency and found also the N314D substitution responsible for the Duarte variant and the arg333-to-trp mutation (R333W; <a href="#0002">606999.0002</a>) previously found in Caucasians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550229" 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="#13" class="mim-tip-reference" title="Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., Strobl, W. <strong>Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.</strong> Hum. Mutat. 10: 49-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222760</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222760">Greber-Platzer et al. (1997)</a> found from studies in 30 unrelated families (24 Austrian, 2 Croatian, and 4 German) with classic galactosemia that DGGE detected 59 of the 60 alleles. The Q188R mutation accounted for 60% of these alleles; K285N (<a href="#0013">606999.0013</a>) accounted for 28%. In addition, they found 8 novel candidate galactosemia mutations. In all D2 variants, N314D occurred in cis with 2 intronic sequence changes; in 3 patients with the D1 variant, N314D was in cis with a neutral mutation in exon 7 (L218L). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222760" 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="#8" class="mim-tip-reference" title="Elsas, L. J., II, Lai, K. <strong>The molecular biology of galactosemia.</strong> Genet. Med. 1: 40-48, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261429</a>] [<a href="https://doi.org/10.1097/00125817-199811000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261429">Elsas and Lai (1998)</a> stated that more than 130 mutations in the GALT gene (<a href="/entry/606999">606999</a>) had been associated with GALT deficiency. Two common mutations, Q188R (<a href="#0006">606999.0006</a>) and K285N (<a href="#0013">606999.0013</a>), accounted for more than 70% of galactosemia-producing alleles in the white population and were associated with classic galactosemia and impaired GALT function. In the black population, S135L (<a href="#0010">606999.0010</a>) accounted for 62% of the alleles causing galactosemia and was associated with good outcomes. A large 5-kb deletion in the GALT gene was identified in Ashkenazi Jews. A comprehensive review of the 120 or more mutations was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P. <strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong> Am. J. Hum. Genet. 56: 630-639, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>]" pmid="7887416">Elsas et al. (1995)</a> described a strategy for identifying new mutations in the GALT gene. A total of 12 new and 21 previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual biochemical phenotype was found in a family in which the newborn proband had classic galactosemia. From the father, he had inherited 2 mutations in cis: asn314 to asp (N314D; <a href="#0005">606999.0005</a>) and glu203 to lys (E203K; <a href="#0014">606999.0014</a>). From the mother, he had inherited a mutation in the splice acceptor site of intron C of the GALT gene. The GALT activity in erythrocytes of the father, who was heterozygous for the double mutation, was near normal. An asymptomatic sister showed compound heterozygosity for 3 mutations: E203K-N314D/N314D. Surprisingly, her erythrocytes had normal GALT activity. <a href="#10" class="mim-tip-reference" title="Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P. <strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong> Am. J. Hum. Genet. 56: 630-639, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>]" pmid="7887416">Elsas et al. (1995)</a> speculated that E203K and N314D codon changes produce intraallelic complementation when in cis. The E203K mutation was located in codon 7 and was the result of a GAG-to-AAG transition; the N314D mutation was in exon 10 and resulted from an AAC-to-GAC transition. The latter mutation is a frequent basis of the Duarte variant; the former was a new mutation found in this study. The chromosome with only one mutation, N314D, came from the proband's mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Galactosemia I</em></strong></p><p>
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Data on gene frequencies of allelic variants were tabulated by <a href="#38" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>. <a href="#53" class="mim-tip-reference" title="Tyfield, L., Reichardt, J., Fridovich-Keil, J., Croke, D. T., Elsas, L. J., II, Strobl, W., Kozak, L., Coskun, T., Novelli, G., Okano, Y., Zekanowski, C., Shin, Y., Boleda, M. D. <strong>Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.</strong> Hum. Mutat. 13: 417-430, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408771</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10408771">Tyfield et al. (1999)</a> stated that by the end of 1998 more than 150 different base changes in the GALT gene were recorded in 24 different populations and ethnic groups of 15 countries worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10408771" 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="#49" class="mim-tip-reference" title="Suzuki, M., West, C., Beutler, E. <strong>Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.</strong> Hum. Genet. 109: 210-215, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511927</a>] [<a href="https://doi.org/10.1007/s004390100552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511927">Suzuki et al. (2001)</a> estimated that the birth incidence of classic galactosemia is 1 per 47,000 in the white population. Among whites, <a href="#49" class="mim-tip-reference" title="Suzuki, M., West, C., Beutler, E. <strong>Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.</strong> Hum. Genet. 109: 210-215, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511927</a>] [<a href="https://doi.org/10.1007/s004390100552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511927">Suzuki et al. (2001)</a> found the frequency of the Q188R mutation (<a href="#0006">606999.0006</a>) to be 0.29%, and that of the K285N mutation (<a href="#0013">606999.0013</a>) to be 0.062%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511927" 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="#27" class="mim-tip-reference" title="Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T. <strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong> Europ. J. Hum. Genet. 7: 549-554, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10439960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10439960</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10439960">Murphy et al. (1999)</a> estimated the incidence of classic transferase-deficient galactosemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group (an endogamous group of commercial/industrial nomads within the Irish population). Based on a survey of newborn screening records, the incidence of classic transferase-deficient galactosemia was estimated to be 1 in 480 and 1 in 30,000 among Traveller and non-Traveller communities, respectively. Fifty-six classic galactosemic patients were screened for mutations in the GALT gene. Q188R was the sole mutant allele among the Travellers, as well as being the most frequent mutant allele among the non-Travellers (89.1%). Of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G (<a href="#0015">606999.0015</a>) and one was F194L (<a href="#0016">606999.0016</a>), with 3 remaining uncharacterized. Anonymous population screening had shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers, as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a SacI RFLP flanking exon 6 of the GALT gene. <a href="#20" class="mim-tip-reference" title="Lin, H. C., Reichardt, J. K. V. <strong>Linkage disequilibrium between a SacI restriction length fragment polymorphism and two galactosemia mutations.</strong> Hum. Genet. 95: 353-355, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868133</a>] [<a href="https://doi.org/10.1007/BF00225208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868133">Lin and Reichardt (1995)</a> demonstrated that the Q188R mutation is in linkage disequilibrium with the SacI RFLP in African American, Asian, Caucasian, and Latino galactosemic patients. This was interpreted to indicate that the Q188R mutation arose once in the history of the modern human population and was spread worldwide by demic diffusion. The same disequilibrium in the Irish population suggested that the Q188R mutation was present in the indigenous population before the Travellers separated and was carried into the Traveller population by its founders. The findings suggested, furthermore, that the modern Traveller subpopulation in Ireland had an endogenous origin. The high frequency of the Q188R allele appears to be due to founder effect coupled with rapid expansion of this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7868133+10439960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Duarte-1 and Duarte-2 Alleles</em></strong></p><p>
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<a href="#54" class="mim-tip-reference" title="Vaccaro, A. M., Mandara, I., Muscillo, M., Ciaffoni, F., De Pellegrin, S., Benincasa, A., Novelletto, A., Terrenato, L. <strong>Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.</strong> Hum. Hered. 34: 197-206, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6090305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6090305</a>] [<a href="https://doi.org/10.1159/000153463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6090305">Vaccaro et al. (1984)</a> studied the frequency of the Duarte and Los Angeles variants of red cell gal-1-P uridylyltransferase in Italy; the 2 have similar electrophoretic patterns but the enzyme activity in heterozygotes is about half normal in the former and about 1.5 times normal in the latter. No apparent clinical abnormality accompanies either. The allele frequencies were: N = 0.9192; G (for galactosemia) = 0.0036; D (for Duarte) = 0.0372 and LA (for Los Angeles) = 0.0400. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6090305" 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>By cross-species comparison, <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> found that all non-human species, including chimpanzee, macaque, and mouse, encoded D rather than N at codon 314, strongly implicating D314 as the ancestral allele and suggesting the variant predominant in human is most appropriately termed D314N. In primates, the CTA(Leu) codon predominates, indicating CTA as the ancestral allele in humans. The proximal 5-prime GALT sequence contains a repeated tetranucleotide sequence of GTCA and predominates as a 3-repeat sequence (GTCA)3 in humans and primates, whereas mice carry only 1 repeat (GTCA)1. <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> suggested that the repeat sequence appears to have expanded through the course of evolution and the 4-bp deletion (<a href="#0017">606999.0017</a>) represents a contraction of 1 repeat. The authors reported that the frequency of the D314 allele (<a href="#0005">606999.0005</a>) in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. The frequency of the TTA(Leu) codon (<a href="#0012">606999.0012</a>) accounted for 4.5% of alleles in the CEPH sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" 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 a gene-trap strategy, <a href="#50" class="mim-tip-reference" title="Tang, M., Siddiqi, A., Witt, B., Yuzyuk, T., Johnson, B., Fraser, N., Chen, W., Rascon, R., Yin, X., Goli, H., Bodamer, O. A., Lai, K. <strong>Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model.</strong> Europ. J. Hum. Genet. 22: 1172-1179, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24549051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24549051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24549051[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24549051">Tang et al. (2014)</a> created Galt -/- mice. Compared with wildtype, Galt -/- mice showed elevated red blood cell galactose-1-phosphate, both in the absence and presence of dietary galactose challenge. Galt -/- females had smaller litter sizes and fewer lifetime pregnancies, as well as fewer numbers of follicles and more corpora lutea of larger size per ovary, compared with controls. Feeding a high-galactose diet to lactating Galt -/- females resulted in lethality in over 70% of Galt -/- pups before weaning. Galactose-challenged Galt -/- pups showed cerebral edema and inflammatory response, abnormal changes in Purkinje and outer granular cell layers of cerebellum, and lower ratio of reduced glutathione to oxidized glutathione in blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24549051" 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>Early studies on the mapping of the galactose-1-phosphate uridylyltransferase locus yielded conflicting results, placing it on chromosome 2 (Sun et al. (<a href="#46" class="mim-tip-reference" title="Sun, N. C., Chang, C. C., Chu, E. H. Y. <strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. (Abstract)</strong> Am. J. Hum. Genet. 25: 77A, 1973."None>1973</a>, <a href="#47" class="mim-tip-reference" " title="Sun, N. C., Chang, C. C., Chu, E. H. Y. <strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 71: 404-407, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4521812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4521812</a>] [<a href="https://doi.org/10.1073/pnas.71.2.404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4521812">1974</a>, <a href="#48" class="mim-tip-reference" title="Sun, N. C., Sun, C. R. Y., Chu, E. H. Y. <strong>Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.</strong> Hum. Genet. 37: 279-284, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/885547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">885547</a>] [<a href="https://doi.org/10.1007/BF00393609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="885547">1977</a>); <a href="#6" class="mim-tip-reference" title="Chu, E. H. Y., Chang, C. C., Sun, N. C. <strong>Synteny of the human genes for Gal-1-PT, ACP(1), MDH-1, and Gal(+)-act and assignment to chromosome 2.</strong> Birth Defects Orig. Art. Ser. XI(3): 103-106, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1203465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1203465</a>]" pmid="1203465">Chu et al., 1975</a>), and on chromosome 3 (<a href="#51" class="mim-tip-reference" title="Tedesco, T. A., Diamond, R., Orkwiszewski, K. G., Boedecker, H. J., Croce, C. M. <strong>Assignment of the human gene for hexose-1-phosphate uridyltransferase to chromosome 3.</strong> Proc. Nat. Acad. Sci. 71: 3483-3486, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4139713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4139713</a>] [<a href="https://doi.org/10.1073/pnas.71.9.3483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4139713">Tedesco et al., 1974</a>; <a href="#2" class="mim-tip-reference" title="Allerdice, P. W., Tedesco, T. A. <strong>Localisation of human gene for galactose-1-phosphate-uridyltransferase. (Letter)</strong> Lancet 306: 39 only, 1975. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/49636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">49636</a>] [<a href="https://doi.org/10.1016/s0140-6736(75)92988-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="49636">Allerdice and Tedesco, 1975</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4139713+4521812+1203465+885547+49636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>17 Selected Examples</a>):</strong>
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<a href="/allelicVariants/606999" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606999[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a id="0001" class="mim-anchor"></a>
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<strong>.0001 GALACTOSEMIA I</strong>
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GALT, MET142LYS
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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> rs111033695 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033695;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/rs111033695?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=rs111033695" 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=rs111033695" 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=RCV000003793 OR RCV000185916 OR RCV001826409 OR RCV003398436" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003793, RCV000185916, RCV001826409, RCV003398436" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003793...</a>
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<p>In a patient with classic galactosemia (GALAC1; <a href="/entry/230400">230400</a>), Reichardt and Woo (<a href="#36" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Missense mutations in galactosemia. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A164, 1990."None>1990</a>, <a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">1991</a>) found a methionine-to-lysine change at a position that is conserved in all eukaryotes sequenced to date but in none of the prokaryotes. The mutation reduced the specific activity of the mutated protein to about 4% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011574" 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 GALACTOSEMIA I</strong>
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GALT, ARG333TRP
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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> rs111033800 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033800;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/rs111033800?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=rs111033800" 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=rs111033800" 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=RCV000003794 OR RCV000723400 OR RCV001826410" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003794, RCV000723400, RCV001826410" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003794...</a>
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<p>In a patient with severe galactosemia I (GALAC1; <a href="/entry/230400">230400</a>) and undetectable GALT enzymatic activity, <a href="#36" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Missense mutations in galactosemia. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A164, 1990."None>Reichardt and Woo (1990)</a> and <a href="#35" class="mim-tip-reference" title="Reichardt, J. K. V., Packman, S., Woo, S. L. C. <strong>Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.</strong> Am. J. Hum. Genet. 49: 860-867, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897530</a>]" pmid="1897530">Reichardt et al. (1991)</a> found substitution of arginine-333 by tryptophan caused by a transition at nucleotide 1025. The region surrounding this missense mutation is the most highly conserved domain in the homologous enzymes of E. coli, yeast, and humans. This mutation appears to be rare. See also <a href="#0006">606999.0006</a> and <a href="#11" class="mim-tip-reference" title="Elsevier, J. P., Fridovich-Keil, J. L. <strong>The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.</strong> J. Biol. Chem. 271: 32002-32007, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943248</a>] [<a href="https://doi.org/10.1074/jbc.271.50.32002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8943248">Elsevier and Fridovich-Keil (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1897530+8943248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 GALACTOSEMIA I</strong>
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GALT, VAL44MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033647 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033647;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=rs111033647" 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=rs111033647" 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=RCV000003795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003795</a>
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<p><a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">Reichardt and Woo (1991)</a> identified a substitution of valine-44 by methionine in a patient with galactosemia I (GALAC1; <a href="/entry/230400">230400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011574" 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 GALT POLYMORPHISM</strong>
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GALT, LEU62MET
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1800461 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800461;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=rs1800461" 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=rs1800461" 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=RCV000003796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003796</a>
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<p>This polymorphism was identified by <a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">Reichardt and Woo (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011574" 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 GALT POLYMORPHISM (DUARTE, D2)</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> rs2070074 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070074;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/rs2070074?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=rs2070074" 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=rs2070074" 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=RCV000003797 OR RCV000003804 OR RCV000022233 OR RCV000078243 OR RCV000128642 OR RCV000309989 OR RCV001376109 OR RCV002254278 OR RCV003230412 OR RCV003891427" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003797, RCV000003804, RCV000022233, RCV000078243, RCV000128642, RCV000309989, RCV001376109, RCV002254278, RCV003230412, RCV003891427" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003797...</a>
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<p>This polymorphism was identified by <a href="#37" class="mim-tip-reference" title="Reichardt, J. K. V., Woo, S. L. C. <strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong> Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>] [<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2011574">Reichardt and Woo (1991)</a>. The asn314-to-asp (N314D; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070074;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070074</a>) substitution results from a 940A-G transition in exon 10 of the GALT gene. In 111 biochemically unphenotyped controls with no history of galactosemia, <a href="#7" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> identified 13 N314D alleles. Using G for the allele causing classic galactosemia and D for the Duarte allele, <a href="#7" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> proposed that the D/N, D/D, and D/G genotypes show approximately 75%, 50%, and 25% of normal GALT activity, respectively. In addition, the Duarte allele is associated with an isoform of the enzyme that has more acidic pI than normal. This variant is known as Duarte, Duarte-2, or D2 (<a href="#14" class="mim-tip-reference" title="Holton, J. B., Walter, J. H., Tyfield, L. A. <strong>Galactosemia.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 2297-2326."None>Holton et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2011574+8198125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G. <strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong> Hum. Mutat. 6: 36-43, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550229</a>] [<a href="https://doi.org/10.1002/humu.1380060108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550229">Ashino et al. (1995)</a> identified the N314D substitution in Japanese patients with GALT deficiency and speculated that the mutation arose before Asian and Caucasian peoples diverged. <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> reported that the frequency of the D314 allele in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19224951+7550229" 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 characteristic Duarte isoform is also associated with a variant allele (652C-T; L218L; <a href="#0012">606999.0012</a>), yielding the 'Los Angeles (LA) phenotype,' which has nearly normal or increased GALT enzyme activity. <a href="#31" class="mim-tip-reference" title="Podskarbi, T., Kohlmetz, T., Gathof, B. S., Kleinlein, B., Bieger, W. P., Gresser, U., Shin, Y. S. <strong>Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.</strong> J. Inherit. Metab. Dis. 19: 638-644, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8892021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8892021</a>] [<a href="https://doi.org/10.1007/BF01799840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8892021">Podskarbi et al. (1996)</a> referred to the 'Los Angeles variant' as Duarte-1 (D1), and noted that the N314D substitution was associated with a silent L218L substitution. They found the same substitution, N314D, in conjunction with 2 regulatory intronic mutations, 1105G-C and 1391G-A, in the D2 variant. Although D1 and D2 have identical electrophoretic mobility and isoelectric focusing points, their GALT activities differ: D1 variants show 110% to 130% of normal RBC activity, but D2 variants show only 40% to 50%. The N314D polymorphism occurs in both variants. <a href="#31" class="mim-tip-reference" title="Podskarbi, T., Kohlmetz, T., Gathof, B. S., Kleinlein, B., Bieger, W. P., Gresser, U., Shin, Y. S. <strong>Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.</strong> J. Inherit. Metab. Dis. 19: 638-644, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8892021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8892021</a>] [<a href="https://doi.org/10.1007/BF01799840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8892021">Podskarbi et al. (1996)</a> suggested that the decrease in GALT activity in D2 may be due to regulation of GALT gene expression by the intronic mutations. They suggested that the 1105G-C site may be critical to the function of erythroid transcription factor NFE1 (<a href="/entry/305371">305371</a>), since it flanks the core consensus sequence for 1 of its binding sites. Alternatively, both intronic mutations may be involved in aberrant splice processing, possibly resulting in a low level of correctly spliced mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8892021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> evaluated GALT enzyme activity and screened the GALT genes of 145 patients with 1 or more N314D-containing alleles. They found 7 with the 'LA' biochemical phenotype, and all had the The 652C-T transition in exon 7 in cis with the N314D substitution. In pedigree analyses, this 652C-T transition segregated with the LA phenotype of increased GALT activity in 3 different biochemical phenotypes: LA/N, LA/G, and LA/D. From other studies, <a href="#19" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> concluded that the 652C-T transition increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermolability. They postulated a favorable codon bias for the mutated codon with consequently increased translation rates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J. <strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong> J. Med. Genet. 36: 576-578, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424825</a>]" pmid="10424825">Kozak et al. (1999)</a> found that the Duarte allele is linked to a 4-bp deletion 5-prime to the translation start site (-119_-116delGTCA; <a href="#0016">606999.0016</a>) of GALT. <a href="#9" class="mim-tip-reference" title="Elsas, L. J., Lai, K., Saunders, C. J., Langley, S. D. <strong>Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.</strong> Molec. Genet. Metab. 72: 297-305, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286503</a>] [<a href="https://doi.org/10.1006/mgme.2001.3157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286503">Elsas et al. (2001)</a> found that this 4-bp deletion conferred reduced luciferase activity when transfected into cell lines. Additionally, human lymphoblasts derived from patients with the Duarte allele had reduced GALT mRNA. In the Los Angeles variant, the promoter is intact. <a href="#52" class="mim-tip-reference" title="Trbusek, M., Francova, H., Kozak, L. <strong>Galactosemia: deletion in the 5-prime upstream region of the GALT gene reduces promoter efficiency.</strong> Hum. Genet. 109: 117-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479743</a>] [<a href="https://doi.org/10.1007/s004390100540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479743">Trbusek et al. (2001)</a> presented evidence that the 4-bp promoter deletion is a crucial factor in reduction of Duarte allele enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11286503+10424825+11479743" 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="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> reported that the N314D protein was functionally neutral in mammalian cell and yeast expression studies. In contrast, the 5-prime 4-bp deletion characteristic of D2 alleles appeared to be functionally impaired in reporter gene transfection studies. Allele-specific quantitative RT-PCR revealed that D2 alleles expressed less mRNA in vivo than their wildtype counterparts. The 4-bp deletion appeared to be exclusive to D2 alleles amongst GG, NN, and DG populations. <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> concluded that the 4-bp 5-prime deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs75391579 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs75391579;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/rs75391579?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=rs75391579" 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=rs75391579" 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=RCV000003798 OR RCV000185917 OR RCV000825563 OR RCV003415643 OR RCV004018548" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003798, RCV000185917, RCV000825563, RCV003415643, RCV004018548" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003798...</a>
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<p><a href="#35" class="mim-tip-reference" title="Reichardt, J. K. V., Packman, S., Woo, S. L. C. <strong>Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.</strong> Am. J. Hum. Genet. 49: 860-867, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897530</a>]" pmid="1897530">Reichardt et al. (1991)</a> demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188 (Q188R) in patients with galactosemia I (GALAC1; <a href="/entry/230400">230400</a>). The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad and results in about 10% of normal enzymatic activity. The Q188R mutation was the most frequent galactosemia mutation characterized to 1991; it accounted for one-fourth of the galactosemia alleles studied. <a href="#7" class="mim-tip-reference" title="Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J. <strong>A common mutation associated with the Duarte galactosemia allele.</strong> Am. J. Hum. Genet. 54: 1030-1036, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>]" pmid="8198125">Elsas et al. (1994)</a> stated that the Q188R mutation accounts for approximately 70% of Caucasian patients with galactosemia in the state of Georgia (USA), where classic galactosemia has an incidence of 1/38,886 (as determined in 1,396,766 liveborn infants). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1897530+8198125" 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>Although the Q188R mutation is prevalent in the United States, <a href="#3" class="mim-tip-reference" title="Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G. <strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong> Hum. Mutat. 6: 36-43, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550229</a>] [<a href="https://doi.org/10.1002/humu.1380060108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550229">Ashino et al. (1995)</a> found no example in Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Elsevier, J. P., Fridovich-Keil, J. L. <strong>The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.</strong> J. Biol. Chem. 271: 32002-32007, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943248</a>] [<a href="https://doi.org/10.1074/jbc.271.50.32002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8943248">Elsevier and Fridovich-Keil (1996)</a> applied a yeast coexpression system for GALT to investigate the impact of naturally occurring mutations on subunit association of this dimeric enzyme and holoenzyme function. They described the purification and characterization of 2 heterodimers, R333W/wildtype (see <a href="#0002">606999.0002</a>) and Q188R/wildtype, revealing that although the first exhibits approximately 50% wildtype activity, the second exhibits only approximately 15% wildtype activity. Neither heterodimer varied significantly from the wildtype with regard to apparent Km for either substrate used, although Q188R/WT but not R333W/WT heterodimers demonstrated significantly increased thermal sensitivity relative to the wildtype enzyme. <a href="#11" class="mim-tip-reference" title="Elsevier, J. P., Fridovich-Keil, J. L. <strong>The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.</strong> J. Biol. Chem. 271: 32002-32007, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943248</a>] [<a href="https://doi.org/10.1074/jbc.271.50.32002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8943248">Elsevier and Fridovich-Keil (1996)</a> commented that their results demonstrated for the first time a partial dominant-negative effect caused by a naturally occurring mutation in human GALT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8943248" 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 GALACTOSEMIA I</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> rs111033663 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033663;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/rs111033663?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=rs111033663" 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=rs111033663" 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=RCV000003799 OR RCV000723459 OR RCV001826411" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003799, RCV000723459, RCV001826411" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003799...</a>
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<p><a href="#33" class="mim-tip-reference" title="Reichardt, J. K. V., Levy, H. L., Woo, S. L. C. <strong>Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.</strong> Biochemistry 31: 5430-5433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1610789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1610789</a>] [<a href="https://doi.org/10.1021/bi00139a002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1610789">Reichardt et al. (1992)</a> characterized 2 galactosemia I (GALAC1; <a href="/entry/230400">230400</a>) mutations, L74P and F171S (<a href="#0008">606999.0008</a>), and 1 polymorphism, S135L, in the GALT gene. Both mutations resulted in reduced enzymatic activity on expression studies, whereas the polymorphism resulted in near normal activity. Both mutations involved evolutionarily conserved residues, while the polymorphism occurred in a nonconserved domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1610789" 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 GALACTOSEMIA I</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> rs111033715 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033715;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/rs111033715?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=rs111033715" 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=rs111033715" 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=RCV000003800 OR RCV000723392 OR RCV001831509" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003800, RCV000723392, RCV001831509" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003800...</a>
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<p>See <a href="#0007">606999.0007</a> and <a href="#33" class="mim-tip-reference" title="Reichardt, J. K. V., Levy, H. L., Woo, S. L. C. <strong>Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.</strong> Biochemistry 31: 5430-5433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1610789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1610789</a>] [<a href="https://doi.org/10.1021/bi00139a002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1610789">Reichardt et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1610789" 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 GALACTOSEMIA I</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> rs111033792 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033792;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/rs111033792?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=rs111033792" 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=rs111033792" 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=RCV000003801 OR RCV000727567" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003801, RCV000727567" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003801...</a>
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<p><a href="#12" class="mim-tip-reference" title="Flach, J. E., Reichardt, J. K. V., Elsas, L. J., II. <strong>Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong> Molec. Biol. Med. 7: 365-369, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2233247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2233247</a>]" pmid="2233247">Flach et al. (1990)</a> identified a his319-to-gln (H319Q) mutation in the GALT gene by sequencing PCR-amplified DNA from an Italian patient with galactosemia I (GALAC1; <a href="/entry/230400">230400</a>). The mutation was a C-to-A transversion at basepair 985. <a href="#34" class="mim-tip-reference" title="Reichardt, J. K. V., Novelli, G., Dallapiccola, B. <strong>Molecular characterization of the H319Q galactosemia mutation.</strong> Hum. Molec. Genet. 2: 325-326, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499924</a>] [<a href="https://doi.org/10.1093/hmg/2.3.325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8499924">Reichardt et al. (1993)</a> demonstrated that the H319Q allele encodes an unstable polypeptide. This is a CRM-negative mutation that affects a domain conserved in E. coli and yeast. Therefore, histidine-319 presumably encodes a structurally important residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8499924+2233247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111033690 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033690;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/rs111033690?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=rs111033690" 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=rs111033690" 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=RCV000003802 OR RCV000185915 OR RCV001826412 OR RCV002251865 OR RCV002512724 OR RCV004752682" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003802, RCV000185915, RCV001826412, RCV002251865, RCV002512724, RCV004752682" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003802...</a>
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<p><a href="#4" class="mim-tip-reference" title="Baker, L., Mellman, W. J., Tedesco, T. A., Segal, S. <strong>Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship.</strong> J. Pediat. 68: 551-558, 1966."None>Baker et al. (1966)</a> described black patients with classic galactosemia (GALAC1; <a href="/entry/230400">230400</a>) who lacked GALT activity in their erythrocytes and yet were able to oxidize a substantial amount of labeled galactose to CO2 in vivo (<a href="#40" class="mim-tip-reference" title="Segal, S., Cuatrecasas, P. <strong>The oxidation of C(14) galactose by patients with congenital galactosemia: evidence for a direct oxidative pathway.</strong> Am. J. Med. 44: 340-347, 1968."None>Segal and Cuatrecasas, 1968</a>). Liver and intestinal mucosa biopsy specimens from these patients expressed about 10% of normal GALT activity. This apparent tissue specificity of GALT enzyme expression was labeled the 'Negro variant' of galactosemia. <a href="#18" class="mim-tip-reference" title="Lai, K., Langley, S. D., Singh, R. H., Dembure, P. P., Hjelm, L. N., Elsas, L. J., II. <strong>A prevalent mutation for galactosemia among black Americans.</strong> J. Pediat. 128: 89-95, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8551426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8551426</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70432-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8551426">Lai et al. (1996)</a> demonstrated that the underlying mutation is a C-to-T transition at bp1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). Population screening was performed using a restriction enzyme assay; the mutation abolishes a TaqI recognition site. The S135L mutation was not found in 84 white patients with homozygous galactosemia or in 87 white control subjects without galactosemia. One S135L allele was found out of the 100 GALT alleles in 50 black subjects; 16 out of 32 alleles in 16 galactosemic patients were of the S135L type. In 1 patient with galactosemia, the S135L mutation was maternal in origin; the patient had a black mother and a white father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8551426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 GALACTOSEMIA I</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">rs111033721 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033721;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=rs111033721" 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=rs111033721" 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=RCV000003803" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003803" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003803</a>
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<p><a href="#29" class="mim-tip-reference" title="Ninfali, P., Bresolin, N., Dallapiccola, B., Novelli, G. <strong>Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.(Letter)</strong> J. Neurol. 243: 102-103, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8869397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8869397</a>] [<a href="https://doi.org/10.1007/BF00878541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8869397">Ninfali et al. (1996)</a> described an 8-year-old boy with galactosemia I (GALAC1; <a href="/entry/230400">230400</a>) as well as necrotic muscle fibers and muscle hypotrophy. This child was a compound heterozygote. One allele was a previously described glu188-to-arg change (<a href="#0006">606999.0006</a>). The other allele was a novel A-to-C substitution at nucleotide position 1454 in exon 6, predicting a proline to threonine change at position 183. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8869397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 GALT POLYMORPHISM (LOS ANGELES, D1)</strong>
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GALT, LEU218LEU AND ASN314ASP
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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> rs2070075 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070075;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/rs2070075?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=rs2070075" 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=rs2070075" 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=RCV000003797 OR RCV000003804 OR RCV000022233 OR RCV000032587 OR RCV000078233 OR RCV000078243 OR RCV000128642 OR RCV000309989 OR RCV001376109 OR RCV001701572 OR RCV001826537 OR RCV002254278 OR RCV003230412 OR RCV003891427" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003797, RCV000003804, RCV000022233, RCV000032587, RCV000078233, RCV000078243, RCV000128642, RCV000309989, RCV001376109, RCV001701572, RCV001826537, RCV002254278, RCV003230412, RCV003891427" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003797...</a>
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<p><a href="#19" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> noted that the homozygous Duarte phenotype (<a href="/entry/230400">230400</a>) (N314D; <a href="#0005">606999.0005</a>) is usually associated with approximately 50% of normal GALT enzyme activity, but sometimes the Duarte biochemical phenotype, as defined by a shift in its isozyme-banding pattern toward the anode on isoelectric focusing, is associated with increased GALT enzyme activity; this biochemical variant has been called the 'Los Angeles (LA) variant' by <a href="#28" class="mim-tip-reference" title="Ng, W. G., Bergren, W. R., Donnell, G. N. <strong>A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.</strong> Ann. Hum. Genet. 37: 1-8, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4759900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4759900</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1973.tb01808.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4759900">Ng et al. (1973)</a> and others and is also know as Duarte-1 or D1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4759900+9012409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> evaluated GALT enzyme activity and screened the GALT gene of 145 patients with 1 or more N314D-containing alleles. They found 7 with the LA biochemical phenotype, and all had a 652C-T transition in exon 7 in cis with the N314D substitution. The 652C-T transition is a rare neutral polymorphism for leucine at amino acid 218 (L218L; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2070075;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2070075</a>). In pedigree analyses, the 652C-T transition segregated with the LA phenotype of increased GALT activity. From other studies, <a href="#19" class="mim-tip-reference" title="Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J. <strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong> Am. J. Hum. Genet. 60: 366-372, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>]" pmid="9012409">Langley et al. (1997)</a> concluded that the codon change in 314D in cis with the 652C-T transition produces the LA variant galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermolability. They postulated a favorable codon bias for the mutated codon with subsequently increased translation rates as the mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012409" 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="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> reported that the frequency of the TTA(Leu) codon accounted for 4.5% of alleles in the CEPH HapMap sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 GALACTOSEMIA I</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> rs111033773 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033773;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/rs111033773?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=rs111033773" 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=rs111033773" 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=RCV000003805 OR RCV000224446 OR RCV001831510" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003805, RCV000224446, RCV001831510" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003805...</a>
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<p>In a study of 30 families with classic galactosemia (GALAC1; <a href="/entry/230400">230400</a>) in Denmark, <a href="#13" class="mim-tip-reference" title="Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., Strobl, W. <strong>Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.</strong> Hum. Mutat. 10: 49-57, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222760</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9222760">Greber-Platzer et al. (1997)</a> found that the second common galactosemia mutation was lys285 to gln (K285N), accounting for 28% of GALT gene alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111033736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033736;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/rs111033736?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=rs111033736" 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=rs111033736" 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=RCV000003806 OR RCV000727661 OR RCV001271243" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003806, RCV000727661, RCV001271243" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003806...</a>
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<p>See <a href="#10" class="mim-tip-reference" title="Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P. <strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong> Am. J. Hum. Genet. 56: 630-639, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>]" pmid="7887416">Elsas et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887416" 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>.0015 GALACTOSEMIA I</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> rs111033800 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033800;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/rs111033800?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=rs111033800" 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=rs111033800" 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=RCV000003807 OR RCV001831511" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003807, RCV001831511" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003807...</a>
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<p>In Ireland, classic galactosemia (GALAC1; <a href="/entry/230400">230400</a>) is very frequent among the Travellers, an endogamous nomadic group in which all cases are due to homozygosity for the Q188R mutation (<a href="#0006">606999.0006</a>). The same allele accounts for most of the disease alleles among non-Travellers (89.1%). <a href="#27" class="mim-tip-reference" title="Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T. <strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong> Europ. J. Hum. Genet. 7: 549-554, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10439960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10439960</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10439960">Murphy et al. (1999)</a> found that of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G and one was F194L (<a href="#0016">606999.0016</a>), with 3 remaining uncharacterized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10439960" 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>.0016 GALACTOSEMIA I</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">rs111033726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033726;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=rs111033726" 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=rs111033726" 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=RCV000003808" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003808" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003808</a>
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<p>See <a href="#0015">606999.0015</a> and <a href="#27" class="mim-tip-reference" title="Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T. <strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong> Europ. J. Hum. Genet. 7: 549-554, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10439960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10439960</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10439960">Murphy et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10439960" 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>.0017 GALACTOSEMIA, DUARTE VARIANT</strong>
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GALT, 4-BP DEL, -119GTCA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033640;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=rs111033640" 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=rs111033640" 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=RCV000003809 OR RCV000022037 OR RCV000128642 OR RCV000185922 OR RCV002254278 OR RCV003103715 OR RCV003230412 OR RCV004018659 OR RCV004798742" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003809, RCV000022037, RCV000128642, RCV000185922, RCV002254278, RCV003103715, RCV003230412, RCV004018659, RCV004798742" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003809...</a>
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<p><a href="#17" class="mim-tip-reference" title="Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J. <strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong> J. Med. Genet. 36: 576-578, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424825</a>]" pmid="10424825">Kozak et al. (1999)</a> found that the Duarte allele (N314D; <a href="#0005">606999.0005</a>) is linked to a 4-bp deletion, 5-prime to the translation start site (-119_-116delGTCA) of GALT, resulting in disruption of predicted binding sites of 2 transcriptional activators (AP1Q2 and AP1Q4). <a href="#9" class="mim-tip-reference" title="Elsas, L. J., Lai, K., Saunders, C. J., Langley, S. D. <strong>Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.</strong> Molec. Genet. Metab. 72: 297-305, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286503</a>] [<a href="https://doi.org/10.1006/mgme.2001.3157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286503">Elsas et al. (2001)</a> found that this 4-bp deletion conferred reduced luciferase activity when transfected into cell lines. Additionally, human lymphoblasts derived from patients with the Duarte allele had reduced GALT mRNA. In the Los Angeles variant (<a href="#0012">606999.0012</a>), the promoter is intact. <a href="#52" class="mim-tip-reference" title="Trbusek, M., Francova, H., Kozak, L. <strong>Galactosemia: deletion in the 5-prime upstream region of the GALT gene reduces promoter efficiency.</strong> Hum. Genet. 109: 117-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479743</a>] [<a href="https://doi.org/10.1007/s004390100540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479743">Trbusek et al. (2001)</a> presented evidence that the 4-bp promoter deletion is a crucial factor in reduction of Duarte allele enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11286503+10424825+11479743" 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="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> reported that the N314D substitution was functionally neutral in mammalian cell and yeast expression studies. In contrast, the 5-prime 4-bp deletion characteristic of D2 alleles appeared to be functionally impaired in reporter gene transfection studies. Allele-specific quantitative RT-PCR revealed that D2 alleles expressed less mRNA in vivo than their wildtype counterparts, suggesting that underexpression at the mRNA level contributes to the compromised function of the D2 GALT allele. The 4-bp deletion appeared to be exclusive to D2 alleles amongst GG, NN, and DG populations. <a href="#5" class="mim-tip-reference" title="Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L. <strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong> Hum. Molec. Genet. 18: 1624-1632, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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/10.1093/hmg/ddp080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19224951">Carney et al. (2009)</a> concluded that the 4-bp 5-prime deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19224951" 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>See Also:</strong>
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<a href="#Kelley1983" class="mim-tip-reference" title="Kelley, R. I., Harris, H., Mellman, W. J. <strong>Characterization of normal and abnormal variants of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) by isoelectric focusing.</strong> Hum. Genet. 63: 274-279, 1983.">Kelley et al. (1983)</a>; <a href="#Meera1978" class="mim-tip-reference" title="Meera Khan, P., Wijnen, L. M. M., Pearson, P. L. <strong>Assignment of a human galactose-1-phosphate uridyltransferase gene (GALT-1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.</strong> Cytogenet. Cell Genet. 22: 207-211, 1978.">Meera Khan et al. (1978)</a>; <a href="#Mohandas1978" class="mim-tip-reference" title="Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J. <strong>Assignment of GALT to chromosome 9 and regional localization of GALT, AK-1, AK-3, and ACON-S on chromosome 9.</strong> Cytogenet. Cell Genet. 22: 456-460, 1978.">Mohandas et al.
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(1978)</a>; <a href="#Mohandas1979" class="mim-tip-reference" title="Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J. <strong>Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.</strong> Am. J. Hum. Genet. 31: 586-600, 1979.">Mohandas et al. (1979)</a>; <a href="#Mohandas1977" class="mim-tip-reference" title="Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D. <strong>Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9 using Chinese hamster-human somatic cell hybrids.</strong> Proc. Nat. Acad. Sci. 74: 5628-5631, 1977.">Mohandas et al. (1977)</a>; <a href="#Mulcahy1980" class="mim-tip-reference" title="Mulcahy, M. T., Wilson, R. G. <strong>Where is the gene for GALT? (Letter)</strong> Hum. Genet. 54: 129-130, 1980.">Mulcahy and
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Wilson (1980)</a>; <a href="#Paterson1981" class="mim-tip-reference" title="Paterson, J. S., Aitken, D. A., Jackson, H. J., Ferguson-Smith, M. A. <strong>Mapping the structural gene for galactose-1-phosphate uridyl transferase (GALT EC 2.7.7.12) by linkage to pericentric inversions and heteromorphisms of chromosome 9. (Abstract)</strong> J. Med. Genet. 18: 223-224, 1981.">Paterson et al. (1981)</a>; <a href="#Scherz1976" class="mim-tip-reference" title="Scherz, R., Pflugshaupt, R., Butler, R. <strong>A new genetic variant of galactose-1-phosphate uridyl transferase.</strong> Hum. Genet. 35: 51-55, 1976.">Scherz et al. (1976)</a>; <a href="#Sparkes1980" class="mim-tip-reference" title="Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S. <strong>Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen-to-9p22.</strong> Ann. Hum. Genet. 43: 343-347, 1980.">Sparkes
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et al. (1980)</a>; <a href="#Sparkes1979" class="mim-tip-reference" title="Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S. <strong>Expression of galactose-1-P uridyltransferase in patients with chromosome alterations affecting 9p: assignment of the locus to p11-22. (Abstract)</strong> Cytogenet. Cell Genet. 25: 209, 1979.">Sparkes et al. (1979)</a>; <a href="#Sparkes1980" class="mim-tip-reference" title="Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S. <strong>Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen-to-9p22.</strong> Ann. Hum. Genet. 43: 343-347, 1980.">Sparkes et al. (1980)</a>; <a href="#Westerveld1978" class="mim-tip-reference" title="Westerveld, A., Garver, J., Nijman, M. A., Pearson, P. L. <strong>Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridyltransferase on chromosome 9.</strong> Cytogenet. Cell Genet. 22: 465-467, 1978.">Westerveld et al. (1978)</a>; <a href="#Westerveld1975" class="mim-tip-reference" title="Westerveld, A., van Henegouwen, H. M., Van Someren, H. <strong>Evidence for synteny between the human loci for galactose-1-phosphate uridyl transferase and aconitase in man-Chinese hamster somatic cell hybrids.</strong> Birth Defects Orig. Artic. Ser. 11(3): 283-284, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 453-454, 1975.">Westerveld et al. (1975)</a>; <a href="#Xu1983" class="mim-tip-reference" title="Xu, Y.-K., Ng, W. G. <strong>Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.</strong> Hum. Genet. 63: 280-282, 1983.">Xu and Ng (1983)</a>
|
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|
|
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|
|
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|
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
|
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</span>
|
|
</h4>
|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Aitken1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aitken, D. A., Ferguson-Smith, M. A.
|
|
<strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 131, 1979.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Allerdice1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Allerdice, P. W., Tedesco, T. A.
|
|
<strong>Localisation of human gene for galactose-1-phosphate-uridyltransferase. (Letter)</strong>
|
|
Lancet 306: 39 only, 1975. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/49636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">49636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=49636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(75)92988-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Ashino1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G.
|
|
<strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong>
|
|
Hum. Mutat. 6: 36-43, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1380060108" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Baker1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Baker, L., Mellman, W. J., Tedesco, T. A., Segal, S.
|
|
<strong>Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship.</strong>
|
|
J. Pediat. 68: 551-558, 1966.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Carney2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L.
|
|
<strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong>
|
|
Hum. Molec. Genet. 18: 1624-1632, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19224951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19224951</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19224951[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=19224951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddp080" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Chu1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chu, E. H. Y., Chang, C. C., Sun, N. C.
|
|
<strong>Synteny of the human genes for Gal-1-PT, ACP(1), MDH-1, and Gal(+)-act and assignment to chromosome 2.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(3): 103-106, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1203465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1203465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1203465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Elsas1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J.
|
|
<strong>A common mutation associated with the Duarte galactosemia allele.</strong>
|
|
Am. J. Hum. Genet. 54: 1030-1036, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Elsas1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., II, Lai, K.
|
|
<strong>The molecular biology of galactosemia.</strong>
|
|
Genet. Med. 1: 40-48, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00125817-199811000-00009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Elsas2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., Lai, K., Saunders, C. J., Langley, S. D.
|
|
<strong>Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.</strong>
|
|
Molec. Genet. Metab. 72: 297-305, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/mgme.2001.3157" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Elsas1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P.
|
|
<strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong>
|
|
Am. J. Hum. Genet. 56: 630-639, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Elsevier1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elsevier, J. P., Fridovich-Keil, J. L.
|
|
<strong>The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.</strong>
|
|
J. Biol. Chem. 271: 32002-32007, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8943248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8943248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8943248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.271.50.32002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Flach1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Flach, J. E., Reichardt, J. K. V., Elsas, L. J., II.
|
|
<strong>Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong>
|
|
Molec. Biol. Med. 7: 365-369, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2233247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2233247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2233247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Greber-Platzer1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., Strobl, W.
|
|
<strong>Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.</strong>
|
|
Hum. Mutat. 10: 49-57, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9222760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9222760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9222760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Holton2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holton, J. B., Walter, J. H., Tyfield, L. A.
|
|
<strong>Galactosemia.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 2297-2326.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Kelley1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kelley, R. I., Harris, H., Mellman, W. J.
|
|
<strong>Characterization of normal and abnormal variants of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) by isoelectric focusing.</strong>
|
|
Hum. Genet. 63: 274-279, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6303941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6303941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6303941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00284663" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Kondo1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kondo, I., Nakamura, N.
|
|
<strong>Regional mapping of GALT in the short arm of chromosome 9. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 514, 1984.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Kozak1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J.
|
|
<strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong>
|
|
J. Med. Genet. 36: 576-578, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10424825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Lai1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lai, K., Langley, S. D., Singh, R. H., Dembure, P. P., Hjelm, L. N., Elsas, L. J., II.
|
|
<strong>A prevalent mutation for galactosemia among black Americans.</strong>
|
|
J. Pediat. 128: 89-95, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8551426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8551426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8551426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(96)70432-8" target="_blank">Full Text</a>]
|
|
|
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|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Langley1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J.
|
|
<strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong>
|
|
Am. J. Hum. Genet. 60: 366-372, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
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|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Lin1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lin, H. C., Reichardt, J. K. V.
|
|
<strong>Linkage disequilibrium between a SacI restriction length fragment polymorphism and two galactosemia mutations.</strong>
|
|
Hum. Genet. 95: 353-355, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7868133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00225208" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Magrangeas1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Magrangeas, F., Pitiot, G., Dubois, S., Bragado-Nilsson, E., Cherel, M., Jobert, S., Lebeau, B., Boisteau, O., Lethe, B., Mallet, J., Jacques, Y., Minvielle, S.
|
|
<strong>Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells: implication for the production of multidomain proteins during evolution.</strong>
|
|
J. Biol. Chem. 273: 16005-16010, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632650</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9632650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.273.26.16005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Meera Khan1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meera Khan, P., Wijnen, L. M. M., Pearson, P. L.
|
|
<strong>Assignment of a human galactose-1-phosphate uridyltransferase gene (GALT-1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.</strong>
|
|
Cytogenet. Cell Genet. 22: 207-211, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/752475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">752475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=752475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000130937" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Mohandas1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J.
|
|
<strong>Assignment of GALT to chromosome 9 and regional localization of GALT, AK-1, AK-3, and ACON-S on chromosome 9.</strong>
|
|
Cytogenet. Cell Genet. 22: 456-460, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/222547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">222547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=222547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000130996" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Mohandas1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J.
|
|
<strong>Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.</strong>
|
|
Am. J. Hum. Genet. 31: 586-600, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/292306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">292306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=292306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Mohandas1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D.
|
|
<strong>Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9 using Chinese hamster-human somatic cell hybrids.</strong>
|
|
Proc. Nat. Acad. Sci. 74: 5628-5631, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/271990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">271990</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=271990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.74.12.5628" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Mulcahy1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mulcahy, M. T., Wilson, R. G.
|
|
<strong>Where is the gene for GALT? (Letter)</strong>
|
|
Hum. Genet. 54: 129-130, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6248448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6248448</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6248448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00279064" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Murphy1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T.
|
|
<strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong>
|
|
Europ. J. Hum. Genet. 7: 549-554, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10439960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10439960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10439960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200327" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Ng1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ng, W. G., Bergren, W. R., Donnell, G. N.
|
|
<strong>A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.</strong>
|
|
Ann. Hum. Genet. 37: 1-8, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4759900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4759900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4759900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1973.tb01808.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Ninfali1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ninfali, P., Bresolin, N., Dallapiccola, B., Novelli, G.
|
|
<strong>Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.(Letter)</strong>
|
|
J. Neurol. 243: 102-103, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8869397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8869397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8869397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00878541" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Paterson1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Paterson, J. S., Aitken, D. A., Jackson, H. J., Ferguson-Smith, M. A.
|
|
<strong>Mapping the structural gene for galactose-1-phosphate uridyl transferase (GALT EC 2.7.7.12) by linkage to pericentric inversions and heteromorphisms of chromosome 9. (Abstract)</strong>
|
|
J. Med. Genet. 18: 223-224, 1981.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Podskarbi1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Podskarbi, T., Kohlmetz, T., Gathof, B. S., Kleinlein, B., Bieger, W. P., Gresser, U., Shin, Y. S.
|
|
<strong>Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.</strong>
|
|
J. Inherit. Metab. Dis. 19: 638-644, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8892021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8892021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8892021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01799840" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Reichardt1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Berg, P.
|
|
<strong>Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong>
|
|
Molec. Biol. Med. 5: 107-122, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2840550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2840550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2840550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Reichardt1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Levy, H. L., Woo, S. L. C.
|
|
<strong>Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.</strong>
|
|
Biochemistry 31: 5430-5433, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1610789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1610789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1610789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1021/bi00139a002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Reichardt1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Novelli, G., Dallapiccola, B.
|
|
<strong>Molecular characterization of the H319Q galactosemia mutation.</strong>
|
|
Hum. Molec. Genet. 2: 325-326, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/2.3.325" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Reichardt1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Packman, S., Woo, S. L. C.
|
|
<strong>Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.</strong>
|
|
Am. J. Hum. Genet. 49: 860-867, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Reichardt1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Woo, S. L. C.
|
|
<strong>Missense mutations in galactosemia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 47 (suppl.): A164, 1990.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Reichardt1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Woo, S. L. C.
|
|
<strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2011574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2011574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2011574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.88.7.2633" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Roychoudhury1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Scherz1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scherz, R., Pflugshaupt, R., Butler, R.
|
|
<strong>A new genetic variant of galactose-1-phosphate uridyl transferase.</strong>
|
|
Hum. Genet. 35: 51-55, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1002164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1002164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1002164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00295618" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Segal1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Segal, S., Cuatrecasas, P.
|
|
<strong>The oxidation of C(14) galactose by patients with congenital galactosemia: evidence for a direct oxidative pathway.</strong>
|
|
Am. J. Med. 44: 340-347, 1968.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Shih1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shih, L. Y., Rosin, I., Suslak, L., Searle, B., Desposito, F.
|
|
<strong>Localization of the structural gene for galactose-1-phosphate uridyl transferase to band p13 of chromosome 9 by gene dosage studies. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 62A, 1982.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Shih1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shih, L. Y., Suslak, L., Rosin, I., Searle, B. M., Desposito, F.
|
|
<strong>Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.</strong>
|
|
Am. J. Med. Genet. 19: 539-543, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6095663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6095663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6095663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320190316" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Sparkes1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Epstein, P. A., Kidd, K. K., Klisak, I., Sparkes, M. C., Crist, M., Morton, L. A.
|
|
<strong>Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.</strong>
|
|
Am. J. Hum. Genet. 32: 188-193, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6247907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6247907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6247907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Sparkes1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S.
|
|
<strong>Expression of galactose-1-P uridyltransferase in patients with chromosome alterations affecting 9p: assignment of the locus to p11-22. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 209, 1979.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Sparkes1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S.
|
|
<strong>Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen-to-9p22.</strong>
|
|
Ann. Hum. Genet. 43: 343-347, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6249180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1980.tb01568.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Sun1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Chang, C. C., Chu, E. H. Y.
|
|
<strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 25: 77A, 1973.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Sun1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Chang, C. C., Chu, E. H. Y.
|
|
<strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 71: 404-407, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4521812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4521812</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4521812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.71.2.404" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Sun1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Sun, C. R. Y., Chu, E. H. Y.
|
|
<strong>Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.</strong>
|
|
Hum. Genet. 37: 279-284, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/885547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">885547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=885547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00393609" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Suzuki2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Suzuki, M., West, C., Beutler, E.
|
|
<strong>Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.</strong>
|
|
Hum. Genet. 109: 210-215, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390100552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Tang2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tang, M., Siddiqi, A., Witt, B., Yuzyuk, T., Johnson, B., Fraser, N., Chen, W., Rascon, R., Yin, X., Goli, H., Bodamer, O. A., Lai, K.
|
|
<strong>Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model.</strong>
|
|
Europ. J. Hum. Genet. 22: 1172-1179, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24549051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24549051</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24549051[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=24549051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2014.12" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Tedesco1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tedesco, T. A., Diamond, R., Orkwiszewski, K. G., Boedecker, H. J., Croce, C. M.
|
|
<strong>Assignment of the human gene for hexose-1-phosphate uridyltransferase to chromosome 3.</strong>
|
|
Proc. Nat. Acad. Sci. 71: 3483-3486, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4139713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4139713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4139713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.71.9.3483" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Trbusek2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trbusek, M., Francova, H., Kozak, L.
|
|
<strong>Galactosemia: deletion in the 5-prime upstream region of the GALT gene reduces promoter efficiency.</strong>
|
|
Hum. Genet. 109: 117-120, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390100540" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Tyfield1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tyfield, L., Reichardt, J., Fridovich-Keil, J., Croke, D. T., Elsas, L. J., II, Strobl, W., Kozak, L., Coskun, T., Novelli, G., Okano, Y., Zekanowski, C., Shin, Y., Boleda, M. D.
|
|
<strong>Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.</strong>
|
|
Hum. Mutat. 13: 417-430, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10408771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10408771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10408771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Vaccaro1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vaccaro, A. M., Mandara, I., Muscillo, M., Ciaffoni, F., De Pellegrin, S., Benincasa, A., Novelletto, A., Terrenato, L.
|
|
<strong>Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.</strong>
|
|
Hum. Hered. 34: 197-206, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6090305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6090305</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6090305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000153463" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Westerveld1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Westerveld, A., Garver, J., Nijman, M. A., Pearson, P. L.
|
|
<strong>Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridyltransferase on chromosome 9.</strong>
|
|
Cytogenet. Cell Genet. 22: 465-467, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/222548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">222548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=222548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000130998" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Westerveld1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Westerveld, A., van Henegouwen, H. M., Van Someren, H.
|
|
<strong>Evidence for synteny between the human loci for galactose-1-phosphate uridyl transferase and aconitase in man-Chinese hamster somatic cell hybrids.</strong>
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Birth Defects Orig. Artic. Ser. 11(3): 283-284, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 453-454, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1203497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1203497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1203497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="57" class="mim-anchor"></a>
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<a id="Xu1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, Y.-K., Ng, W. G.
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<strong>Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.</strong>
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Hum. Genet. 63: 280-282, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6303942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6303942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6303942" 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/10.1007/BF00284664" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/11/2014
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<span class="mim-text-font">
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George E. Tiller - updated : 10/15/2009
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Creation Date:
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<span class="mim-text-font">
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Cassandra L. Kniffin : 5/30/2002
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carol : 08/10/2023
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carol : 03/10/2022<br>carol : 03/03/2022<br>carol : 04/27/2020<br>carol : 03/19/2019<br>carol : 07/08/2016<br>mgross : 11/12/2014<br>mgross : 11/12/2014<br>mcolton : 11/11/2014<br>terry : 10/4/2012<br>terry : 1/17/2012<br>carol : 9/30/2011<br>carol : 9/30/2011<br>wwang : 6/4/2010<br>terry : 10/15/2009<br>terry : 4/3/2009<br>wwang : 4/1/2009<br>mgross : 5/4/2007<br>terry : 11/16/2006<br>wwang : 3/23/2006<br>carol : 6/7/2002<br>carol : 6/7/2002<br>ckniffin : 6/7/2002<br>ckniffin : 6/7/2002<br>ckniffin : 6/5/2002
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<span class="mim-font">
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<strong>*</strong> 606999
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<h3>
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GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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Other entities represented in this entry:
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<span class="h3 mim-font">
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GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
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<strong><em>HGNC Approved Gene Symbol: GALT</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 124354006, 398664009;
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<strong>
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<em>
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Cytogenetic location: 9p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:34,646,675-34,651,035 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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9p13.3
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<span class="mim-font">
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Galactosemia
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</td>
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<td>
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<span class="mim-font">
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230400
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) is the second enzyme in the evolutionarily conserved galactose metabolic pathway. It facilitates the simultaneous conversion of uridine diphosphoglucose and galactose-1-phosphate to uridine diphosphogalactose and glucose-1-phosphate, respectively (summary by Tang et al., 2014). </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Reichardt and Berg (1988) used short peptide sequences conserved between E. coli and yeast to isolate a human GALT cDNA clone. The deduced 379-amino acid protein has a molecular mass of approximately 43 kD. </p><p><strong><em>GALT/IL11RA Spliced Read-Through Transcript</em></strong></p><p>
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Magrangeas et al. (1998) established the existence of poly(A) site choice and fusion splicing of 2 adjacent genes, encoding galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain (IL11RA; 600939), in normal human cells. This 16-kb transcription unit contains 2 promoters (the first one constitutive, and the second, 8 kb downstream, highly regulated) and 2 cleavage/polyadenylation signals separated by 12 kb. The promoter from the GALT gene yields 2 mRNAs, a 1.4-kb mRNA encoding GALT and a 3-kb fusion mRNA when the first poly(A) site is spliced out and the second poly(A) site is used. The 3-kb mRNA codes for a fusion protein containing part of the GALT protein and the entire IL11RA protein. The GALT promoter/IL11RA poly(A) transcript results from leaky termination and alternative splicing. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By gene dosage studies, Aitken and Ferguson-Smith (1979) assigned the structural gene for GALT to the short arm of chromosome 9. Shih et al. (1982, 1984) assigned the GALT locus to 9p13 by gene dosage. By deletion mapping, Kondo and Nakamura (1984) corroborated the 9p13 localization. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In a patient with classic galactosemia, or galactosemia I (GALAC1; 230400), Reichardt and Woo (1990, 1991) found a methionine-to-lysine change at codon 142 of the GALT gene, which resulted in reduction of the specific activity of the mutated protein to about 4% of normal (606999.0001). </p><p>The Duarte polymorphism was identified by Reichardt and Woo (1991), who pointed out that the galactosemia mutations tend to occur in regions of the gene that are highly conserved throughout evolution whereas the polymorphisms change variable residues. Elsas et al. (1994) presented evidence that the N314D substitution, a 940A-G transition in exon 10 (rs2070074; 606999.0005), is a common allele that causes the Duarte GALT biochemical phenotype of reduced enzyme activity, known as the 'D2' variant. Elsas et al. (1994) found that the N314D substitution occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. When found in cis with a silent mutation, L218L (rs2070075; 606999.0012), the Duarte allele N314D causes increased enzyme activity, known as the 'Los Angeles' or 'D1' variant. Subsequently, Kozak et al. (1999) showed that a 4-bp deletion (-119delGTCA; 606999.0017) in the 5-prime region of the GALT gene was linked with the Duarte allele and conferred reduced enzymatic activity. Carney et al. (2009) showed that the 5-prime 4-bp deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. </p><p>In Japan, where classic galactosemia is thought to be only one-twentieth as frequent as it is in Caucasian populations of the United States, Ashino et al. (1995) reported 2 novel GALT mutations in 2 Japanese patients with GALT deficiency and found also the N314D substitution responsible for the Duarte variant and the arg333-to-trp mutation (R333W; 606999.0002) previously found in Caucasians. </p><p>Greber-Platzer et al. (1997) found from studies in 30 unrelated families (24 Austrian, 2 Croatian, and 4 German) with classic galactosemia that DGGE detected 59 of the 60 alleles. The Q188R mutation accounted for 60% of these alleles; K285N (606999.0013) accounted for 28%. In addition, they found 8 novel candidate galactosemia mutations. In all D2 variants, N314D occurred in cis with 2 intronic sequence changes; in 3 patients with the D1 variant, N314D was in cis with a neutral mutation in exon 7 (L218L). </p><p>Elsas and Lai (1998) stated that more than 130 mutations in the GALT gene (606999) had been associated with GALT deficiency. Two common mutations, Q188R (606999.0006) and K285N (606999.0013), accounted for more than 70% of galactosemia-producing alleles in the white population and were associated with classic galactosemia and impaired GALT function. In the black population, S135L (606999.0010) accounted for 62% of the alleles causing galactosemia and was associated with good outcomes. A large 5-kb deletion in the GALT gene was identified in Ashkenazi Jews. A comprehensive review of the 120 or more mutations was provided. </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>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Elsas et al. (1995) described a strategy for identifying new mutations in the GALT gene. A total of 12 new and 21 previously reported rare mutations were found. Among the novel group of 12 new mutations, an unusual biochemical phenotype was found in a family in which the newborn proband had classic galactosemia. From the father, he had inherited 2 mutations in cis: asn314 to asp (N314D; 606999.0005) and glu203 to lys (E203K; 606999.0014). From the mother, he had inherited a mutation in the splice acceptor site of intron C of the GALT gene. The GALT activity in erythrocytes of the father, who was heterozygous for the double mutation, was near normal. An asymptomatic sister showed compound heterozygosity for 3 mutations: E203K-N314D/N314D. Surprisingly, her erythrocytes had normal GALT activity. Elsas et al. (1995) speculated that E203K and N314D codon changes produce intraallelic complementation when in cis. The E203K mutation was located in codon 7 and was the result of a GAG-to-AAG transition; the N314D mutation was in exon 10 and resulted from an AAC-to-GAC transition. The latter mutation is a frequent basis of the Duarte variant; the former was a new mutation found in this study. The chromosome with only one mutation, N314D, came from the proband's mother. </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>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Galactosemia I</em></strong></p><p>
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Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). Tyfield et al. (1999) stated that by the end of 1998 more than 150 different base changes in the GALT gene were recorded in 24 different populations and ethnic groups of 15 countries worldwide. </p><p>Suzuki et al. (2001) estimated that the birth incidence of classic galactosemia is 1 per 47,000 in the white population. Among whites, Suzuki et al. (2001) found the frequency of the Q188R mutation (606999.0006) to be 0.29%, and that of the K285N mutation (606999.0013) to be 0.062%. </p><p>Murphy et al. (1999) estimated the incidence of classic transferase-deficient galactosemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group (an endogamous group of commercial/industrial nomads within the Irish population). Based on a survey of newborn screening records, the incidence of classic transferase-deficient galactosemia was estimated to be 1 in 480 and 1 in 30,000 among Traveller and non-Traveller communities, respectively. Fifty-six classic galactosemic patients were screened for mutations in the GALT gene. Q188R was the sole mutant allele among the Travellers, as well as being the most frequent mutant allele among the non-Travellers (89.1%). Of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G (606999.0015) and one was F194L (606999.0016), with 3 remaining uncharacterized. Anonymous population screening had shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers, as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a SacI RFLP flanking exon 6 of the GALT gene. Lin and Reichardt (1995) demonstrated that the Q188R mutation is in linkage disequilibrium with the SacI RFLP in African American, Asian, Caucasian, and Latino galactosemic patients. This was interpreted to indicate that the Q188R mutation arose once in the history of the modern human population and was spread worldwide by demic diffusion. The same disequilibrium in the Irish population suggested that the Q188R mutation was present in the indigenous population before the Travellers separated and was carried into the Traveller population by its founders. The findings suggested, furthermore, that the modern Traveller subpopulation in Ireland had an endogenous origin. The high frequency of the Q188R allele appears to be due to founder effect coupled with rapid expansion of this population. </p><p><strong><em>Duarte-1 and Duarte-2 Alleles</em></strong></p><p>
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Vaccaro et al. (1984) studied the frequency of the Duarte and Los Angeles variants of red cell gal-1-P uridylyltransferase in Italy; the 2 have similar electrophoretic patterns but the enzyme activity in heterozygotes is about half normal in the former and about 1.5 times normal in the latter. No apparent clinical abnormality accompanies either. The allele frequencies were: N = 0.9192; G (for galactosemia) = 0.0036; D (for Duarte) = 0.0372 and LA (for Los Angeles) = 0.0400. </p><p>By cross-species comparison, Carney et al. (2009) found that all non-human species, including chimpanzee, macaque, and mouse, encoded D rather than N at codon 314, strongly implicating D314 as the ancestral allele and suggesting the variant predominant in human is most appropriately termed D314N. In primates, the CTA(Leu) codon predominates, indicating CTA as the ancestral allele in humans. The proximal 5-prime GALT sequence contains a repeated tetranucleotide sequence of GTCA and predominates as a 3-repeat sequence (GTCA)3 in humans and primates, whereas mice carry only 1 repeat (GTCA)1. Carney et al. (2009) suggested that the repeat sequence appears to have expanded through the course of evolution and the 4-bp deletion (606999.0017) represents a contraction of 1 repeat. The authors reported that the frequency of the D314 allele (606999.0005) in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. The frequency of the TTA(Leu) codon (606999.0012) accounted for 4.5% of alleles in the CEPH sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. </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 a gene-trap strategy, Tang et al. (2014) created Galt -/- mice. Compared with wildtype, Galt -/- mice showed elevated red blood cell galactose-1-phosphate, both in the absence and presence of dietary galactose challenge. Galt -/- females had smaller litter sizes and fewer lifetime pregnancies, as well as fewer numbers of follicles and more corpora lutea of larger size per ovary, compared with controls. Feeding a high-galactose diet to lactating Galt -/- females resulted in lethality in over 70% of Galt -/- pups before weaning. Galactose-challenged Galt -/- pups showed cerebral edema and inflammatory response, abnormal changes in Purkinje and outer granular cell layers of cerebellum, and lower ratio of reduced glutathione to oxidized glutathione in blood. </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>History</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>Early studies on the mapping of the galactose-1-phosphate uridylyltransferase locus yielded conflicting results, placing it on chromosome 2 (Sun et al. (1973, 1974, 1977); Chu et al., 1975), and on chromosome 3 (Tedesco et al., 1974; Allerdice and Tedesco, 1975). </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>17 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 GALACTOSEMIA I</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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GALT, MET142LYS
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<br />
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SNP: rs111033695,
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gnomAD: rs111033695,
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ClinVar: RCV000003793, RCV000185916, RCV001826409, RCV003398436
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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 patient with classic galactosemia (GALAC1; 230400), Reichardt and Woo (1990, 1991) found a methionine-to-lysine change at a position that is conserved in all eukaryotes sequenced to date but in none of the prokaryotes. The mutation reduced the specific activity of the mutated protein to about 4% of normal. </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 GALACTOSEMIA I</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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GALT, ARG333TRP
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<br />
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SNP: rs111033800,
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gnomAD: rs111033800,
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ClinVar: RCV000003794, RCV000723400, RCV001826410
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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 patient with severe galactosemia I (GALAC1; 230400) and undetectable GALT enzymatic activity, Reichardt and Woo (1990) and Reichardt et al. (1991) found substitution of arginine-333 by tryptophan caused by a transition at nucleotide 1025. The region surrounding this missense mutation is the most highly conserved domain in the homologous enzymes of E. coli, yeast, and humans. This mutation appears to be rare. See also 606999.0006 and Elsevier and Fridovich-Keil (1996). </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 GALACTOSEMIA I</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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GALT, VAL44MET
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<br />
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SNP: rs111033647,
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ClinVar: RCV000003795
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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>Reichardt and Woo (1991) identified a substitution of valine-44 by methionine in a patient with galactosemia I (GALAC1; 230400). </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 GALT POLYMORPHISM</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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GALT, LEU62MET
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<br />
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SNP: rs1800461,
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ClinVar: RCV000003796
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This polymorphism was identified by Reichardt and Woo (1991). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 GALT POLYMORPHISM (DUARTE, D2)</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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GALT, ASN314ASP
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<br />
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SNP: rs2070074,
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gnomAD: rs2070074,
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|
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ClinVar: RCV000003797, RCV000003804, RCV000022233, RCV000078243, RCV000128642, RCV000309989, RCV001376109, RCV002254278, RCV003230412, RCV003891427
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This polymorphism was identified by Reichardt and Woo (1991). The asn314-to-asp (N314D; rs2070074) substitution results from a 940A-G transition in exon 10 of the GALT gene. In 111 biochemically unphenotyped controls with no history of galactosemia, Elsas et al. (1994) identified 13 N314D alleles. Using G for the allele causing classic galactosemia and D for the Duarte allele, Elsas et al. (1994) proposed that the D/N, D/D, and D/G genotypes show approximately 75%, 50%, and 25% of normal GALT activity, respectively. In addition, the Duarte allele is associated with an isoform of the enzyme that has more acidic pI than normal. This variant is known as Duarte, Duarte-2, or D2 (Holton et al., 2001). </p><p>Ashino et al. (1995) identified the N314D substitution in Japanese patients with GALT deficiency and speculated that the mutation arose before Asian and Caucasian peoples diverged. Carney et al. (2009) reported that the frequency of the D314 allele in the CEPH HapMap sample is 11.3%, which is unusually high compared with Yoruba, Chinese, and Japanese populations, which each exhibit frequencies of D314 well under 3%. </p><p>The characteristic Duarte isoform is also associated with a variant allele (652C-T; L218L; 606999.0012), yielding the 'Los Angeles (LA) phenotype,' which has nearly normal or increased GALT enzyme activity. Podskarbi et al. (1996) referred to the 'Los Angeles variant' as Duarte-1 (D1), and noted that the N314D substitution was associated with a silent L218L substitution. They found the same substitution, N314D, in conjunction with 2 regulatory intronic mutations, 1105G-C and 1391G-A, in the D2 variant. Although D1 and D2 have identical electrophoretic mobility and isoelectric focusing points, their GALT activities differ: D1 variants show 110% to 130% of normal RBC activity, but D2 variants show only 40% to 50%. The N314D polymorphism occurs in both variants. Podskarbi et al. (1996) suggested that the decrease in GALT activity in D2 may be due to regulation of GALT gene expression by the intronic mutations. They suggested that the 1105G-C site may be critical to the function of erythroid transcription factor NFE1 (305371), since it flanks the core consensus sequence for 1 of its binding sites. Alternatively, both intronic mutations may be involved in aberrant splice processing, possibly resulting in a low level of correctly spliced mRNA. </p><p>Langley et al. (1997) evaluated GALT enzyme activity and screened the GALT genes of 145 patients with 1 or more N314D-containing alleles. They found 7 with the 'LA' biochemical phenotype, and all had the The 652C-T transition in exon 7 in cis with the N314D substitution. In pedigree analyses, this 652C-T transition segregated with the LA phenotype of increased GALT activity in 3 different biochemical phenotypes: LA/N, LA/G, and LA/D. From other studies, Langley et al. (1997) concluded that the 652C-T transition increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermolability. They postulated a favorable codon bias for the mutated codon with consequently increased translation rates. </p><p>Kozak et al. (1999) found that the Duarte allele is linked to a 4-bp deletion 5-prime to the translation start site (-119_-116delGTCA; 606999.0016) of GALT. Elsas et al. (2001) found that this 4-bp deletion conferred reduced luciferase activity when transfected into cell lines. Additionally, human lymphoblasts derived from patients with the Duarte allele had reduced GALT mRNA. In the Los Angeles variant, the promoter is intact. Trbusek et al. (2001) presented evidence that the 4-bp promoter deletion is a crucial factor in reduction of Duarte allele enzyme activity. </p><p>Carney et al. (2009) reported that the N314D protein was functionally neutral in mammalian cell and yeast expression studies. In contrast, the 5-prime 4-bp deletion characteristic of D2 alleles appeared to be functionally impaired in reporter gene transfection studies. Allele-specific quantitative RT-PCR revealed that D2 alleles expressed less mRNA in vivo than their wildtype counterparts. The 4-bp deletion appeared to be exclusive to D2 alleles amongst GG, NN, and DG populations. Carney et al. (2009) concluded that the 4-bp 5-prime deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALT, GLN188ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs75391579,
|
|
|
|
|
|
gnomAD: rs75391579,
|
|
|
|
|
|
ClinVar: RCV000003798, RCV000185917, RCV000825563, RCV003415643, RCV004018548
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Reichardt et al. (1991) demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188 (Q188R) in patients with galactosemia I (GALAC1; 230400). The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad and results in about 10% of normal enzymatic activity. The Q188R mutation was the most frequent galactosemia mutation characterized to 1991; it accounted for one-fourth of the galactosemia alleles studied. Elsas et al. (1994) stated that the Q188R mutation accounts for approximately 70% of Caucasian patients with galactosemia in the state of Georgia (USA), where classic galactosemia has an incidence of 1/38,886 (as determined in 1,396,766 liveborn infants). </p><p>Although the Q188R mutation is prevalent in the United States, Ashino et al. (1995) found no example in Japanese patients. </p><p>Elsevier and Fridovich-Keil (1996) applied a yeast coexpression system for GALT to investigate the impact of naturally occurring mutations on subunit association of this dimeric enzyme and holoenzyme function. They described the purification and characterization of 2 heterodimers, R333W/wildtype (see 606999.0002) and Q188R/wildtype, revealing that although the first exhibits approximately 50% wildtype activity, the second exhibits only approximately 15% wildtype activity. Neither heterodimer varied significantly from the wildtype with regard to apparent Km for either substrate used, although Q188R/WT but not R333W/WT heterodimers demonstrated significantly increased thermal sensitivity relative to the wildtype enzyme. Elsevier and Fridovich-Keil (1996) commented that their results demonstrated for the first time a partial dominant-negative effect caused by a naturally occurring mutation in human GALT. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALT, LEU74PRO
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|
|
|
|
|
<br />
|
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|
|
SNP: rs111033663,
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|
|
|
gnomAD: rs111033663,
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|
|
|
|
|
ClinVar: RCV000003799, RCV000723459, RCV001826411
|
|
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|
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Reichardt et al. (1992) characterized 2 galactosemia I (GALAC1; 230400) mutations, L74P and F171S (606999.0008), and 1 polymorphism, S135L, in the GALT gene. Both mutations resulted in reduced enzymatic activity on expression studies, whereas the polymorphism resulted in near normal activity. Both mutations involved evolutionarily conserved residues, while the polymorphism occurred in a nonconserved domain. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
GALT, PHE171SER
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|
<br />
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|
|
SNP: rs111033715,
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|
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gnomAD: rs111033715,
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|
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ClinVar: RCV000003800, RCV000723392, RCV001831509
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>See 606999.0007 and Reichardt et al. (1992). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GALACTOSEMIA I</strong>
|
|
</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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|
|
GALT, HIS319GLN
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<br />
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|
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SNP: rs111033792,
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gnomAD: rs111033792,
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ClinVar: RCV000003801, RCV000727567
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Flach et al. (1990) identified a his319-to-gln (H319Q) mutation in the GALT gene by sequencing PCR-amplified DNA from an Italian patient with galactosemia I (GALAC1; 230400). The mutation was a C-to-A transversion at basepair 985. Reichardt et al. (1993) demonstrated that the H319Q allele encodes an unstable polypeptide. This is a CRM-negative mutation that affects a domain conserved in E. coli and yeast. Therefore, histidine-319 presumably encodes a structurally important residue. </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>
|
|
<span class="mim-font">
|
|
<strong>.0010 GALACTOSEMIA I</strong>
|
|
</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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|
|
GALT, SER135LEU
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<br />
|
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|
|
SNP: rs111033690,
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gnomAD: rs111033690,
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ClinVar: RCV000003802, RCV000185915, RCV001826412, RCV002251865, RCV002512724, RCV004752682
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Baker et al. (1966) described black patients with classic galactosemia (GALAC1; 230400) who lacked GALT activity in their erythrocytes and yet were able to oxidize a substantial amount of labeled galactose to CO2 in vivo (Segal and Cuatrecasas, 1968). Liver and intestinal mucosa biopsy specimens from these patients expressed about 10% of normal GALT activity. This apparent tissue specificity of GALT enzyme expression was labeled the 'Negro variant' of galactosemia. Lai et al. (1996) demonstrated that the underlying mutation is a C-to-T transition at bp1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). Population screening was performed using a restriction enzyme assay; the mutation abolishes a TaqI recognition site. The S135L mutation was not found in 84 white patients with homozygous galactosemia or in 87 white control subjects without galactosemia. One S135L allele was found out of the 100 GALT alleles in 50 black subjects; 16 out of 32 alleles in 16 galactosemic patients were of the S135L type. In 1 patient with galactosemia, the S135L mutation was maternal in origin; the patient had a black mother and a white father. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0011 GALACTOSEMIA I</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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GALT, PRO183THR
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<br />
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SNP: rs111033721,
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ClinVar: RCV000003803
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Ninfali et al. (1996) described an 8-year-old boy with galactosemia I (GALAC1; 230400) as well as necrotic muscle fibers and muscle hypotrophy. This child was a compound heterozygote. One allele was a previously described glu188-to-arg change (606999.0006). The other allele was a novel A-to-C substitution at nucleotide position 1454 in exon 6, predicting a proline to threonine change at position 183. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0012 GALT POLYMORPHISM (LOS ANGELES, D1)</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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GALT, LEU218LEU AND ASN314ASP
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<br />
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SNP: rs2070075,
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gnomAD: rs2070075,
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ClinVar: RCV000003797, RCV000003804, RCV000022233, RCV000032587, RCV000078233, RCV000078243, RCV000128642, RCV000309989, RCV001376109, RCV001701572, RCV001826537, RCV002254278, RCV003230412, RCV003891427
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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>Langley et al. (1997) noted that the homozygous Duarte phenotype (230400) (N314D; 606999.0005) is usually associated with approximately 50% of normal GALT enzyme activity, but sometimes the Duarte biochemical phenotype, as defined by a shift in its isozyme-banding pattern toward the anode on isoelectric focusing, is associated with increased GALT enzyme activity; this biochemical variant has been called the 'Los Angeles (LA) variant' by Ng et al. (1973) and others and is also know as Duarte-1 or D1. </p><p>Langley et al. (1997) evaluated GALT enzyme activity and screened the GALT gene of 145 patients with 1 or more N314D-containing alleles. They found 7 with the LA biochemical phenotype, and all had a 652C-T transition in exon 7 in cis with the N314D substitution. The 652C-T transition is a rare neutral polymorphism for leucine at amino acid 218 (L218L; rs2070075). In pedigree analyses, the 652C-T transition segregated with the LA phenotype of increased GALT activity. From other studies, Langley et al. (1997) concluded that the codon change in 314D in cis with the 652C-T transition produces the LA variant galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermolability. They postulated a favorable codon bias for the mutated codon with subsequently increased translation rates as the mechanism. </p><p>Carney et al. (2009) reported that the frequency of the TTA(Leu) codon accounted for 4.5% of alleles in the CEPH HapMap sample, whereas the frequency is even rarer in non-European populations, with an observed frequency of about 1% in the Chinese sample and a complete absence in the Yoruba and Japanese samples. </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>
|
|
<span class="mim-font">
|
|
<strong>.0013 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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GALT, LYS285ASN
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<br />
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SNP: rs111033773,
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|
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gnomAD: rs111033773,
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|
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ClinVar: RCV000003805, RCV000224446, RCV001831510
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a study of 30 families with classic galactosemia (GALAC1; 230400) in Denmark, Greber-Platzer et al. (1997) found that the second common galactosemia mutation was lys285 to gln (K285N), accounting for 28% of GALT gene alleles. </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>
|
|
<span class="mim-font">
|
|
<strong>.0014 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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GALT, GLU203LYS
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<br />
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SNP: rs111033736,
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gnomAD: rs111033736,
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ClinVar: RCV000003806, RCV000727661, RCV001271243
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>See Elsas et al. (1995). </p>
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|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0015 GALACTOSEMIA I</strong>
|
|
</span>
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALT, ARG333GLY
|
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|
<br />
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|
|
SNP: rs111033800,
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|
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|
|
gnomAD: rs111033800,
|
|
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|
|
|
ClinVar: RCV000003807, RCV001831511
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In Ireland, classic galactosemia (GALAC1; 230400) is very frequent among the Travellers, an endogamous nomadic group in which all cases are due to homozygosity for the Q188R mutation (606999.0006). The same allele accounts for most of the disease alleles among non-Travellers (89.1%). Murphy et al. (1999) found that of the 5 non-Q188R mutant alleles in the non-Traveller group, one was R333G and one was F194L (606999.0016), with 3 remaining uncharacterized. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GALACTOSEMIA I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALT, PHE194LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033726,
|
|
|
|
|
|
|
|
ClinVar: RCV000003808
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 606999.0015 and Murphy et al. (1999). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GALACTOSEMIA, DUARTE VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALT, 4-BP DEL, -119GTCA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033640,
|
|
|
|
|
|
|
|
ClinVar: RCV000003809, RCV000022037, RCV000128642, RCV000185922, RCV002254278, RCV003103715, RCV003230412, RCV004018659, RCV004798742
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kozak et al. (1999) found that the Duarte allele (N314D; 606999.0005) is linked to a 4-bp deletion, 5-prime to the translation start site (-119_-116delGTCA) of GALT, resulting in disruption of predicted binding sites of 2 transcriptional activators (AP1Q2 and AP1Q4). Elsas et al. (2001) found that this 4-bp deletion conferred reduced luciferase activity when transfected into cell lines. Additionally, human lymphoblasts derived from patients with the Duarte allele had reduced GALT mRNA. In the Los Angeles variant (606999.0012), the promoter is intact. Trbusek et al. (2001) presented evidence that the 4-bp promoter deletion is a crucial factor in reduction of Duarte allele enzyme activity. </p><p>Carney et al. (2009) reported that the N314D substitution was functionally neutral in mammalian cell and yeast expression studies. In contrast, the 5-prime 4-bp deletion characteristic of D2 alleles appeared to be functionally impaired in reporter gene transfection studies. Allele-specific quantitative RT-PCR revealed that D2 alleles expressed less mRNA in vivo than their wildtype counterparts, suggesting that underexpression at the mRNA level contributes to the compromised function of the D2 GALT allele. The 4-bp deletion appeared to be exclusive to D2 alleles amongst GG, NN, and DG populations. Carney et al. (2009) concluded that the 4-bp 5-prime deletion is the causal mutation in Duarte galactosemia and suggested that direct tests for this deletion could enhance or supplant current tests. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Kelley et al. (1983); Meera Khan et al. (1978); Mohandas et al.
|
|
(1978); Mohandas et al. (1979); Mohandas et al. (1977); Mulcahy and
|
|
Wilson (1980); Paterson et al. (1981); Scherz et al. (1976); Sparkes
|
|
et al. (1980); Sparkes et al. (1979); Sparkes et al. (1980);
|
|
Westerveld et al. (1978); Westerveld et al. (1975); Xu and Ng (1983)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Aitken, D. A., Ferguson-Smith, M. A.
|
|
<strong>Intrachromosomal assignment of the structural gene for GALT to the short arm of chromosome 9 by gene dosage studies. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 131, 1979.
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|
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</p>
|
|
</li>
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|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Allerdice, P. W., Tedesco, T. A.
|
|
<strong>Localisation of human gene for galactose-1-phosphate-uridyltransferase. (Letter)</strong>
|
|
Lancet 306: 39 only, 1975. Note: Originally Volume II.
|
|
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|
|
[PubMed: 49636]
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[Full Text: https://doi.org/10.1016/s0140-6736(75)92988-8]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J.-I., Lin, H.-C., Reichardt, J. K. V., Isshiki, G.
|
|
<strong>Molecular characterization of galactosemia (type 1) mutations in Japanese.</strong>
|
|
Hum. Mutat. 6: 36-43, 1995.
|
|
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|
|
[PubMed: 7550229]
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[Full Text: https://doi.org/10.1002/humu.1380060108]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Baker, L., Mellman, W. J., Tedesco, T. A., Segal, S.
|
|
<strong>Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship.</strong>
|
|
J. Pediat. 68: 551-558, 1966.
|
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|
|
</p>
|
|
</li>
|
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<li>
|
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<p class="mim-text-font">
|
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Carney, A. E., Sanders, R. D., Garza, K. R., McGaha, L. A., Bean, L. J. H., Coffee, B. W., Thomas, J. W., Cutler, D. J., Kurtkaya, N. L., Fridovich-Keil, J. L.
|
|
<strong>Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.</strong>
|
|
Hum. Molec. Genet. 18: 1624-1632, 2009.
|
|
|
|
|
|
[PubMed: 19224951]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp080]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chu, E. H. Y., Chang, C. C., Sun, N. C.
|
|
<strong>Synteny of the human genes for Gal-1-PT, ACP(1), MDH-1, and Gal(+)-act and assignment to chromosome 2.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(3): 103-106, 1975.
|
|
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|
|
|
[PubMed: 1203465]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., Dembure, P. P., Langley, S., Paulk, E. M., Hjelm, L. N., Fridovich-Keil, J.
|
|
<strong>A common mutation associated with the Duarte galactosemia allele.</strong>
|
|
Am. J. Hum. Genet. 54: 1030-1036, 1994.
|
|
|
|
|
|
[PubMed: 8198125]
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|
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., II, Lai, K.
|
|
<strong>The molecular biology of galactosemia.</strong>
|
|
Genet. Med. 1: 40-48, 1998.
|
|
|
|
|
|
[PubMed: 11261429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00125817-199811000-00009]
|
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|
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elsas, L. J., Lai, K., Saunders, C. J., Langley, S. D.
|
|
<strong>Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.</strong>
|
|
Molec. Genet. Metab. 72: 297-305, 2001.
|
|
|
|
|
|
[PubMed: 11286503]
|
|
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|
|
[Full Text: https://doi.org/10.1006/mgme.2001.3157]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L. N., Dembure, P. P.
|
|
<strong>Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.</strong>
|
|
Am. J. Hum. Genet. 56: 630-639, 1995.
|
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|
|
|
[PubMed: 7887416]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Elsevier, J. P., Fridovich-Keil, J. L.
|
|
<strong>The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.</strong>
|
|
J. Biol. Chem. 271: 32002-32007, 1996.
|
|
|
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|
|
[PubMed: 8943248]
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|
[Full Text: https://doi.org/10.1074/jbc.271.50.32002]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Flach, J. E., Reichardt, J. K. V., Elsas, L. J., II.
|
|
<strong>Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong>
|
|
Molec. Biol. Med. 7: 365-369, 1990.
|
|
|
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|
|
[PubMed: 2233247]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., Strobl, W.
|
|
<strong>Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.</strong>
|
|
Hum. Mutat. 10: 49-57, 1997.
|
|
|
|
|
|
[PubMed: 9222760]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holton, J. B., Walter, J. H., Tyfield, L. A.
|
|
<strong>Galactosemia.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (7th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 2297-2326.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kelley, R. I., Harris, H., Mellman, W. J.
|
|
<strong>Characterization of normal and abnormal variants of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) by isoelectric focusing.</strong>
|
|
Hum. Genet. 63: 274-279, 1983.
|
|
|
|
|
|
[PubMed: 6303941]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00284663]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kondo, I., Nakamura, N.
|
|
<strong>Regional mapping of GALT in the short arm of chromosome 9. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 514, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kozak, L., Francova, H., Pijackova, A., Peskovova, K., Martincova, O., Krijt, J.
|
|
<strong>Presence of a deletion in the 5-prime upstream region of the GALT gene in Duarte (D2) alleles.</strong>
|
|
J. Med. Genet. 36: 576-578, 1999.
|
|
|
|
|
|
[PubMed: 10424825]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lai, K., Langley, S. D., Singh, R. H., Dembure, P. P., Hjelm, L. N., Elsas, L. J., II.
|
|
<strong>A prevalent mutation for galactosemia among black Americans.</strong>
|
|
J. Pediat. 128: 89-95, 1996.
|
|
|
|
|
|
[PubMed: 8551426]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(96)70432-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Langley, S. D., Lai, K., Dembure, P. P., Hjelm, L. N., Elsas, L. J.
|
|
<strong>Molecular basis for Duarte and Los Angeles variant galactosemia.</strong>
|
|
Am. J. Hum. Genet. 60: 366-372, 1997.
|
|
|
|
|
|
[PubMed: 9012409]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lin, H. C., Reichardt, J. K. V.
|
|
<strong>Linkage disequilibrium between a SacI restriction length fragment polymorphism and two galactosemia mutations.</strong>
|
|
Hum. Genet. 95: 353-355, 1995.
|
|
|
|
|
|
[PubMed: 7868133]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00225208]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Magrangeas, F., Pitiot, G., Dubois, S., Bragado-Nilsson, E., Cherel, M., Jobert, S., Lebeau, B., Boisteau, O., Lethe, B., Mallet, J., Jacques, Y., Minvielle, S.
|
|
<strong>Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells: implication for the production of multidomain proteins during evolution.</strong>
|
|
J. Biol. Chem. 273: 16005-16010, 1998.
|
|
|
|
|
|
[PubMed: 9632650]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.26.16005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meera Khan, P., Wijnen, L. M. M., Pearson, P. L.
|
|
<strong>Assignment of a human galactose-1-phosphate uridyltransferase gene (GALT-1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.</strong>
|
|
Cytogenet. Cell Genet. 22: 207-211, 1978.
|
|
|
|
|
|
[PubMed: 752475]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130937]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J.
|
|
<strong>Assignment of GALT to chromosome 9 and regional localization of GALT, AK-1, AK-3, and ACON-S on chromosome 9.</strong>
|
|
Cytogenet. Cell Genet. 22: 456-460, 1978.
|
|
|
|
|
|
[PubMed: 222547]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130996]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D., Toomey, K. E., Funderburk, S. J.
|
|
<strong>Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.</strong>
|
|
Am. J. Hum. Genet. 31: 586-600, 1979.
|
|
|
|
|
|
[PubMed: 292306]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mohandas, T., Sparkes, R. S., Sparkes, M. C., Shulkin, J. D.
|
|
<strong>Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9 using Chinese hamster-human somatic cell hybrids.</strong>
|
|
Proc. Nat. Acad. Sci. 74: 5628-5631, 1977.
|
|
|
|
|
|
[PubMed: 271990]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.74.12.5628]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mulcahy, M. T., Wilson, R. G.
|
|
<strong>Where is the gene for GALT? (Letter)</strong>
|
|
Hum. Genet. 54: 129-130, 1980.
|
|
|
|
|
|
[PubMed: 6248448]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00279064]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Murphy, M., McHugh, B., Tighe, O., Mayne, P., O'Neill, C., Naughten, E., Croke, D. T.
|
|
<strong>Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.</strong>
|
|
Europ. J. Hum. Genet. 7: 549-554, 1999.
|
|
|
|
|
|
[PubMed: 10439960]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200327]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ng, W. G., Bergren, W. R., Donnell, G. N.
|
|
<strong>A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.</strong>
|
|
Ann. Hum. Genet. 37: 1-8, 1973.
|
|
|
|
|
|
[PubMed: 4759900]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1973.tb01808.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ninfali, P., Bresolin, N., Dallapiccola, B., Novelli, G.
|
|
<strong>Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.(Letter)</strong>
|
|
J. Neurol. 243: 102-103, 1996.
|
|
|
|
|
|
[PubMed: 8869397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00878541]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Paterson, J. S., Aitken, D. A., Jackson, H. J., Ferguson-Smith, M. A.
|
|
<strong>Mapping the structural gene for galactose-1-phosphate uridyl transferase (GALT EC 2.7.7.12) by linkage to pericentric inversions and heteromorphisms of chromosome 9. (Abstract)</strong>
|
|
J. Med. Genet. 18: 223-224, 1981.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Podskarbi, T., Kohlmetz, T., Gathof, B. S., Kleinlein, B., Bieger, W. P., Gresser, U., Shin, Y. S.
|
|
<strong>Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.</strong>
|
|
J. Inherit. Metab. Dis. 19: 638-644, 1996.
|
|
|
|
|
|
[PubMed: 8892021]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01799840]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Berg, P.
|
|
<strong>Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.</strong>
|
|
Molec. Biol. Med. 5: 107-122, 1988.
|
|
|
|
|
|
[PubMed: 2840550]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Levy, H. L., Woo, S. L. C.
|
|
<strong>Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.</strong>
|
|
Biochemistry 31: 5430-5433, 1992.
|
|
|
|
|
|
[PubMed: 1610789]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00139a002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Novelli, G., Dallapiccola, B.
|
|
<strong>Molecular characterization of the H319Q galactosemia mutation.</strong>
|
|
Hum. Molec. Genet. 2: 325-326, 1993.
|
|
|
|
|
|
[PubMed: 8499924]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.3.325]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Packman, S., Woo, S. L. C.
|
|
<strong>Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.</strong>
|
|
Am. J. Hum. Genet. 49: 860-867, 1991.
|
|
|
|
|
|
[PubMed: 1897530]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Woo, S. L. C.
|
|
<strong>Missense mutations in galactosemia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 47 (suppl.): A164, 1990.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reichardt, J. K. V., Woo, S. L. C.
|
|
<strong>Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 2633-2637, 1991. Note: Erratum: Proc. Nat. Acad. Sci. 88: 7457 only, 1991.
|
|
|
|
|
|
[PubMed: 2011574]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.88.7.2633]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scherz, R., Pflugshaupt, R., Butler, R.
|
|
<strong>A new genetic variant of galactose-1-phosphate uridyl transferase.</strong>
|
|
Hum. Genet. 35: 51-55, 1976.
|
|
|
|
|
|
[PubMed: 1002164]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00295618]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Segal, S., Cuatrecasas, P.
|
|
<strong>The oxidation of C(14) galactose by patients with congenital galactosemia: evidence for a direct oxidative pathway.</strong>
|
|
Am. J. Med. 44: 340-347, 1968.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shih, L. Y., Rosin, I., Suslak, L., Searle, B., Desposito, F.
|
|
<strong>Localization of the structural gene for galactose-1-phosphate uridyl transferase to band p13 of chromosome 9 by gene dosage studies. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 62A, 1982.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shih, L. Y., Suslak, L., Rosin, I., Searle, B. M., Desposito, F.
|
|
<strong>Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.</strong>
|
|
Am. J. Med. Genet. 19: 539-543, 1984.
|
|
|
|
|
|
[PubMed: 6095663]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320190316]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Epstein, P. A., Kidd, K. K., Klisak, I., Sparkes, M. C., Crist, M., Morton, L. A.
|
|
<strong>Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.</strong>
|
|
Am. J. Hum. Genet. 32: 188-193, 1980.
|
|
|
|
|
|
[PubMed: 6247907]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S.
|
|
<strong>Expression of galactose-1-P uridyltransferase in patients with chromosome alterations affecting 9p: assignment of the locus to p11-22. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 25: 209, 1979.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sparkes, R. S., Sparkes, M. C., Funderburk, S. J., Moedjono, S.
|
|
<strong>Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen-to-9p22.</strong>
|
|
Ann. Hum. Genet. 43: 343-347, 1980.
|
|
|
|
|
|
[PubMed: 6249180]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb01568.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Chang, C. C., Chu, E. H. Y.
|
|
<strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 25: 77A, 1973.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Chang, C. C., Chu, E. H. Y.
|
|
<strong>Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 71: 404-407, 1974.
|
|
|
|
|
|
[PubMed: 4521812]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.71.2.404]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sun, N. C., Sun, C. R. Y., Chu, E. H. Y.
|
|
<strong>Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.</strong>
|
|
Hum. Genet. 37: 279-284, 1977.
|
|
|
|
|
|
[PubMed: 885547]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00393609]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, M., West, C., Beutler, E.
|
|
<strong>Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.</strong>
|
|
Hum. Genet. 109: 210-215, 2001.
|
|
|
|
|
|
[PubMed: 11511927]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390100552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tang, M., Siddiqi, A., Witt, B., Yuzyuk, T., Johnson, B., Fraser, N., Chen, W., Rascon, R., Yin, X., Goli, H., Bodamer, O. A., Lai, K.
|
|
<strong>Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model.</strong>
|
|
Europ. J. Hum. Genet. 22: 1172-1179, 2014.
|
|
|
|
|
|
[PubMed: 24549051]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2014.12]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tedesco, T. A., Diamond, R., Orkwiszewski, K. G., Boedecker, H. J., Croce, C. M.
|
|
<strong>Assignment of the human gene for hexose-1-phosphate uridyltransferase to chromosome 3.</strong>
|
|
Proc. Nat. Acad. Sci. 71: 3483-3486, 1974.
|
|
|
|
|
|
[PubMed: 4139713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.71.9.3483]
|
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|
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
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|
|
Trbusek, M., Francova, H., Kozak, L.
|
|
<strong>Galactosemia: deletion in the 5-prime upstream region of the GALT gene reduces promoter efficiency.</strong>
|
|
Hum. Genet. 109: 117-120, 2001.
|
|
|
|
|
|
[PubMed: 11479743]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390100540]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
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Tyfield, L., Reichardt, J., Fridovich-Keil, J., Croke, D. T., Elsas, L. J., II, Strobl, W., Kozak, L., Coskun, T., Novelli, G., Okano, Y., Zekanowski, C., Shin, Y., Boleda, M. D.
|
|
<strong>Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.</strong>
|
|
Hum. Mutat. 13: 417-430, 1999.
|
|
|
|
|
|
[PubMed: 10408771]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0]
|
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|
|
|
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</p>
|
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Vaccaro, A. M., Mandara, I., Muscillo, M., Ciaffoni, F., De Pellegrin, S., Benincasa, A., Novelletto, A., Terrenato, L.
|
|
<strong>Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.</strong>
|
|
Hum. Hered. 34: 197-206, 1984.
|
|
|
|
|
|
[PubMed: 6090305]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000153463]
|
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|
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</p>
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</li>
|
|
|
|
<li>
|
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<p class="mim-text-font">
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Westerveld, A., Garver, J., Nijman, M. A., Pearson, P. L.
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<strong>Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridyltransferase on chromosome 9.</strong>
|
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Cytogenet. Cell Genet. 22: 465-467, 1978.
|
|
|
|
|
|
[PubMed: 222548]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130998]
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</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
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Westerveld, A., van Henegouwen, H. M., Van Someren, H.
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<strong>Evidence for synteny between the human loci for galactose-1-phosphate uridyl transferase and aconitase in man-Chinese hamster somatic cell hybrids.</strong>
|
|
Birth Defects Orig. Artic. Ser. 11(3): 283-284, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 453-454, 1975.
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[PubMed: 1203497]
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Xu, Y.-K., Ng, W. G.
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<strong>Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.</strong>
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Hum. Genet. 63: 280-282, 1983.
|
|
|
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[PubMed: 6303942]
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[Full Text: https://doi.org/10.1007/BF00284664]
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Patricia A. Hartz - updated : 11/11/2014<br>George E. Tiller - updated : 10/15/2009
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