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<title>
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Entry
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- #125851 - MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
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- OMIM
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<p>
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<span class="h4">#125851</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/125851"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MATURITY-ONSET DIABETES OF THE YOUNG, TYPE) OR (GCK)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8028&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK500456/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=552" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111100" 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="http://www.informatics.jax.org/disease/125851" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000279/" 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://wormbase.org/resources/disease/DOID:0111100" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:125851" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 237604008<br />
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<strong>ORPHA:</strong> 552<br />
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<strong>DO:</strong> 0111100<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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125851
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</span>
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</span>
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
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MODY, TYPE 2<br />
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MODY, GLUCOKINASE-RELATED
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<strong>Phenotype-Gene Relationships</strong>
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/7/230?start=-3&limit=10&highlight=230">
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7p13
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MODY, type II
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<span class="mim-font">
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<a href="/entry/125851"> 125851 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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GCK
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<span class="mim-font">
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<a href="/entry/138079"> 138079 </a>
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<a href="/clinicalSynopsis/125851" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/125851" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/125851" 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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<strong> Endo </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br />
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<strong> Misc </strong>
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<span class="mim-font">
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- Early onset, mild and relatively uncomplicated course<br />
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<strong> Lab </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Glucokinase gene defect<br />
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<strong> Inheritance </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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>A number sign (#) is used with this entry because maturity-onset diabetes of the young type 2 (MODY2) is caused by heterozygous mutation in the GCK gene (<a href="/entry/138079">138079</a>) on chromosome 7p13.</p>
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<strong>Description</strong>
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<p>MODY is a form of NIDDM (<a href="/entry/125853">125853</a>) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see <a href="/entry/606391">606391</a>.</p><p>In a review of the various forms of MODY, <a href="#2" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Polonsky, K. S. <strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong> New Eng. J. Med. 345: 971-980, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11575290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11575290</a>] [<a href="https://doi.org/10.1056/NEJMra002168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11575290">Fajans et al. (2001)</a> stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by <a href="#4" class="mim-tip-reference" title="Froguel, P., Velho, G., Cohen, D., Passa, P. <strong>Strategies for the collection of sibling-pair data for genetic studies in type 2 (non insulin-dependent) diabetes mellitus. (Letter)</strong> Diabetologia 34: 685 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1955104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1955104</a>] [<a href="https://doi.org/10.1007/BF00401001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1955104">Froguel et al. (1991)</a>. <a href="#5" class="mim-tip-reference" title="Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., Patel, P., Lo, Y.-M. D., Hattersley, A. T., Luthman, H., Wedell, A., St. Charles, R., Harrison, R. W., Weber, I. T., Bell, G. I., Pilkis, S. J. <strong>Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.</strong> Proc. Nat. Acad. Sci. 90: 1932-1936, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8446612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8446612</a>] [<a href="https://doi.org/10.1073/pnas.90.5.1932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8446612">Gidh-Jain et al. (1993)</a> found that GCK mutations accounted for 56% of MODY families in France. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11575290+1955104+8446612" 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><a href="#3" class="mim-tip-reference" title="Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A., Cohen, D. <strong>Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.</strong> Nature 356: 162-164, 1992. Note: Erratum: Nature 357: 607 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545870</a>] [<a href="https://doi.org/10.1038/356162a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1545870">Froguel et al. (1992)</a> reported linkage between MODY in 16 French families and the GCK locus on chromosome 7. There was statistically significant evidence of genetic heterogeneity, with an estimated 45 to 95% of the 16 families showing linkage to glucokinase. In those families with linkage to GCK, the possibility of direct etiologic relationship to variation at the GCK locus was raised by <a href="#3" class="mim-tip-reference" title="Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A., Cohen, D. <strong>Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.</strong> Nature 356: 162-164, 1992. Note: Erratum: Nature 357: 607 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545870</a>] [<a href="https://doi.org/10.1038/356162a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1545870">Froguel et al. (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1545870" 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 affected members of a French family with MODY mapping to chromosome 7, previously studied by <a href="#3" class="mim-tip-reference" title="Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A., Cohen, D. <strong>Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.</strong> Nature 356: 162-164, 1992. Note: Erratum: Nature 357: 607 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545870</a>] [<a href="https://doi.org/10.1038/356162a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1545870">Froguel et al. (1992)</a>, <a href="#11" class="mim-tip-reference" title="Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P., Cohen, D. <strong>Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.</strong> Nature 356: 721-722, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570017</a>] [<a href="https://doi.org/10.1038/356721a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1570017">Vionnet et al. (1992)</a> identified a point mutation in the GCK gene (<a href="/entry/138079#0001">138079.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1545870+1570017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hattersley, A. T., Beards, F., Ballantyne, E., Appleton, M., Harvey, R., Ellard, S. <strong>Mutations in the glucokinase gene of the fetus result in reduced birth weight.</strong> Nature Genet. 19: 268-270, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662401</a>] [<a href="https://doi.org/10.1038/953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662401">Hattersley et al. (1998)</a> found that mutations in the GCK gene result in reduced birth weight as well as causing MODY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662401" 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="#1" class="mim-tip-reference" title="Barrio, R., Bellanne-Chantelot, C., Moreno, J. C., Morel, V., Calle, H., Alonso, M., Mustieles, C. <strong>Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.</strong> J. Clin. Endocr. Metab. 87: 2532-2539, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050210</a>] [<a href="https://doi.org/10.1210/jcem.87.6.8530" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050210">Barrio et al. (2002)</a> estimated the prevalence of major MODY subtypes in Spanish MODY families and analyzed genotype-phenotype correlations. Twenty-two unrelated pediatric MODY patients and 97 relatives were screened for mutations in the coding region of the GCK, HNF1A (<a href="/entry/142410">142410</a>), and HNF4A (<a href="/entry/600281">600281</a>) genes using PCR-SSCP and/or direct sequencing. Mutations in MODY genes were identified in 64% of the families. GCK/MODY2 mutations were the most frequently found, in 41%: 7 novel and 2 theretofore described mutations. The age at diagnosis was prepubertal in MODY2 index patients and pubertal in MODY3 patients. Overt diabetes was rare in MODY2 and was invariably present in MODY3 index patients. Chronic complications of diabetes were absent in the MODY2 population and were present in more than 40% of all relatives of MODY3 patients. Birth weight was lower in the presence of a GCK fetal mutation when the mutation was of paternal origin. The authors concluded that mutations in the GCK/MODY2 gene are the most common cause of MODY in their population of pediatric and adolescent index patients. Clinical expression of MODY3 and MODY1 mutations, the second and third groups of defects found, was more severe, including the frequent development of chronic complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Vits, L., Beckers, D., Craen, M., de Beaufort, C., Vanfleteren, E., Dahan, K., Nollet, A., Vanhaverbeke, G., Imschoot, S. V., Bourguignon, J.-P., Beauloye, V., Storm, K., Massa, G., Giri, M., Nobels, F., De Schepper, J., Rooman, R., Van den Bruel, A., Mathieu, C., Wuyts, W. <strong>Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. (Letter)</strong> Clin. Genet. 70: 355-359, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965331</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00686.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16965331">Vits et al. (2006)</a> identified 19 different GCK mutations, including 11 novel mutations (see, e.g., <a href="/entry/138079#0014">138079.0014</a>), in 33 (26.6%) of 124 Belgian probands with MODY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Pinterova, D., Ek, J., Kolostova, K., Pruhova, S., Novota, P., Romzova, M., Feigerlova, E., Cerna, M., Lebl, J., Pedersen, O., Hansen, T. <strong>Six novel mutations in the GCK gene in MODY patients. (Letter)</strong> Clin. Genet. 71: 95-96, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204055</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00729.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17204055">Pinterova et al. (2007)</a> screened the GCK gene in 92 Czech probands fulfilling classic MODY criteria and identified 15 different missense mutations in 27 (29%) patients; the mutations were not found in 50 unrelated healthy Czech individuals. <a href="#9" class="mim-tip-reference" title="Pinterova, D., Ek, J., Kolostova, K., Pruhova, S., Novota, P., Romzova, M., Feigerlova, E., Cerna, M., Lebl, J., Pedersen, O., Hansen, T. <strong>Six novel mutations in the GCK gene in MODY patients. (Letter)</strong> Clin. Genet. 71: 95-96, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204055</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00729.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17204055">Pinterova et al. (2007)</a> concluded that mutations in GCK are a common cause of MODY in the Czech population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17204055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mainland Chinese family with a clinical profile similar to that of previously reported MODY2 families, <a href="#10" class="mim-tip-reference" title="Shen, Y., Cai, M., Liang, H., Wang, H., Weng, J. <strong>Insight into the biochemical characteristics of a novel glucokinase gene mutation.</strong> Hum. Genet. 129: 231-238, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21104275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21104275</a>] [<a href="https://doi.org/10.1007/s00439-010-0914-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21104275">Shen et al. (2011)</a> analyzed the GCK gene and identified a heterozygous missense mutation (E339K; <a href="/entry/138079#0016">138079.0016</a>) that segregated with the disease and was not found in 200 controls. The authors noted that MODY2 was rare in Asian families and that mutation in the GCK gene had not previously been reported in MODY patients from the Chinese mainland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21104275" 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="Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R., Golden, A., Goehringer, J. M, Geisinger-Regeneron DiscovEHR Collaboration, Frayling, T. F., Hattersley, A. T., Carey, D. J., Weedon, M. N., Patel, K. A. <strong>Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.</strong> Am. J. Hum. Genet. 109: 2018-2028, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36257325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36257325</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36257325[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36257325">Mirshahi et al. (2022)</a> comprehensively assessed the penetrance and prevalence of pathogenic variants in HNF1A, HNF4A, and GCK that account for more than 80% of monogenic diabetes. <a href="#8" class="mim-tip-reference" title="Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R., Golden, A., Goehringer, J. M, Geisinger-Regeneron DiscovEHR Collaboration, Frayling, T. F., Hattersley, A. T., Carey, D. J., Weedon, M. N., Patel, K. A. <strong>Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.</strong> Am. J. Hum. Genet. 109: 2018-2028, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36257325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36257325</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36257325[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.09.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36257325">Mirshahi et al. (2022)</a> analyzed clinical and genetic data from 1,742 clinically referred probands, 2,194 family members, clinically unselected individuals from a US health system-based cohort of 132,194 individuals, and a UK population-based cohort of 198,748 individuals, and found that 1 in 1,500 individuals harbor a pathogenic variant in one of these genes. The penetrance of pathogenic GCK variants was similar (89 to 97%) across all cohorts. The penetrance of diabetes for HNF1A and HNF4A pathogenic variants was substantially lower in the clinically unselected individuals compared to clinically referred probands and was dependent on the setting (32% in the population, 49% in the health system cohort, 86% in a family member, and 98% in probands for HNF1A). The relative risk of diabetes was similar across the clinically unselected cohorts, highlighting the role of environment/ other genetic factors. The authors suggested that for HNF1A and HNF4A, genetic interpretation and counseling should be tailored to the setting in which a pathogenic monogenic variant was identified. GCK is an exception with near-complete penetrance in all settings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36257325" 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 N-ethyl-N-nitrosourea (ENU) mutagenesis, <a href="#7" class="mim-tip-reference" title="Inoue, M., Sakuraba, Y., Motegi, H., Kubota, N., Toki, H., Matsui, J., Toyoda, Y., Miwa, I., Terauchi, Y., Kadowaki, T., Shigeyama, Y., Kasuga, M. <strong>A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.</strong> Hum. Molec. Genet. 13: 1147-1157, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15102714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15102714</a>] [<a href="https://doi.org/10.1093/hmg/ddh133" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15102714">Inoue et al. (2004)</a> generated diabetic mice. The authors screened 9,375 animals and identified 11 mutations in the glucokinase (Gk) gene that were associated with hyperglycemia. Four of the mutations had previously been found in patients with MODY2, and 1 had been found in a patient with permanent neonatal diabetes mellitus (PNDM1; <a href="/entry/606176">606176</a>). Some of the Gk mutant lines displayed impaired glucose-responsive insulin secretion, and the mutations had different effects on Gk mRNA levels and/or the stability of the GK protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15102714" 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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Barrio, R., Bellanne-Chantelot, C., Moreno, J. C., Morel, V., Calle, H., Alonso, M., Mustieles, C.
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<strong>Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.</strong>
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J. Clin. Endocr. Metab. 87: 2532-2539, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12050210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong>
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New Eng. J. Med. 345: 971-980, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11575290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11575290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11575290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A., Cohen, D.
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<strong>Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.</strong>
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Nature 356: 162-164, 1992. Note: Erratum: Nature 357: 607 only, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1545870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/356162a0" target="_blank">Full Text</a>]
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Froguel, P., Velho, G., Cohen, D., Passa, P.
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<strong>Strategies for the collection of sibling-pair data for genetic studies in type 2 (non insulin-dependent) diabetes mellitus. (Letter)</strong>
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Diabetologia 34: 685 only, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1955104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1955104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1955104" 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/BF00401001" target="_blank">Full Text</a>]
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Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., Patel, P., Lo, Y.-M. D., Hattersley, A. T., Luthman, H., Wedell, A., St. Charles, R., Harrison, R. W., Weber, I. T., Bell, G. I., Pilkis, S. J.
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|
<strong>Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 1932-1936, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8446612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8446612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8446612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.90.5.1932" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Hattersley1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hattersley, A. T., Beards, F., Ballantyne, E., Appleton, M., Harvey, R., Ellard, S.
|
|
<strong>Mutations in the glucokinase gene of the fetus result in reduced birth weight.</strong>
|
|
Nature Genet. 19: 268-270, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/953" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Inoue2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Inoue, M., Sakuraba, Y., Motegi, H., Kubota, N., Toki, H., Matsui, J., Toyoda, Y., Miwa, I., Terauchi, Y., Kadowaki, T., Shigeyama, Y., Kasuga, M.
|
|
<strong>A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.</strong>
|
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Hum. Molec. Genet. 13: 1147-1157, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15102714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15102714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15102714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh133" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Mirshahi2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R., Golden, A., Goehringer, J. M, Geisinger-Regeneron DiscovEHR Collaboration, Frayling, T. F., Hattersley, A. T., Carey, D. J., Weedon, M. N., Patel, K. A.
|
|
<strong>Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.</strong>
|
|
Am. J. Hum. Genet. 109: 2018-2028, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36257325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36257325</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36257325[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=36257325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2022.09.014" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Pinterova2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pinterova, D., Ek, J., Kolostova, K., Pruhova, S., Novota, P., Romzova, M., Feigerlova, E., Cerna, M., Lebl, J., Pedersen, O., Hansen, T.
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<strong>Six novel mutations in the GCK gene in MODY patients. (Letter)</strong>
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Clin. Genet. 71: 95-96, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17204055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00729.x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Shen2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, Y., Cai, M., Liang, H., Wang, H., Weng, J.
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<strong>Insight into the biochemical characteristics of a novel glucokinase gene mutation.</strong>
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Hum. Genet. 129: 231-238, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21104275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21104275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21104275" 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/s00439-010-0914-4" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Vionnet1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P., Cohen, D.
|
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<strong>Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.</strong>
|
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Nature 356: 721-722, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/356721a0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Vits2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vits, L., Beckers, D., Craen, M., de Beaufort, C., Vanfleteren, E., Dahan, K., Nollet, A., Vanhaverbeke, G., Imschoot, S. V., Bourguignon, J.-P., Beauloye, V., Storm, K., Massa, G., Giri, M., Nobels, F., De Schepper, J., Rooman, R., Van den Bruel, A., Mathieu, C., Wuyts, W.
|
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<strong>Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. (Letter)</strong>
|
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Clin. Genet. 70: 355-359, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16965331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16965331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16965331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00686.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<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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Ada Hamosh - updated : 01/17/2023
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</span>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 4/19/2010<br>Marla J. F. O'Neill - updated : 3/9/2007<br>Cassandra L. Kniffin - updated : 11/2/2006<br>George E. Tiller - updated : 8/31/2006<br>John A. Phillips, III - updated : 1/10/2003<br>Ada Hamosh - updated : 10/18/2001<br>John A. Phillips, III - updated : 9/29/2000
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<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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Victor A. McKusick : 5/4/1992
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 01/17/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/01/2020<br>alopez : 04/30/2020<br>carol : 08/12/2015<br>carol : 11/6/2012<br>terry : 11/2/2012<br>terry : 7/5/2012<br>alopez : 4/22/2010<br>terry : 4/19/2010<br>terry : 9/11/2009<br>joanna : 9/4/2009<br>terry : 2/19/2009<br>wwang : 3/13/2007<br>terry : 3/9/2007<br>carol : 11/3/2006<br>ckniffin : 11/2/2006<br>alopez : 8/31/2006<br>alopez : 1/10/2003<br>carol : 10/18/2001<br>carol : 10/18/2001<br>mgross : 10/3/2000<br>terry : 9/29/2000<br>alopez : 12/3/1999<br>alopez : 11/4/1999<br>mgross : 11/4/1999<br>alopez : 12/3/1997<br>mark : 9/29/1997<br>mimadm : 6/25/1994<br>carol : 5/14/1993<br>carol : 5/28/1992<br>carol : 5/4/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 125851
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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MODY, TYPE 2<br />
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MODY, GLUCOKINASE-RELATED
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</span>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237604008;
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<strong>ORPHA:</strong> 552;
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<strong>DO:</strong> 0111100;
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</span>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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7p13
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</span>
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</td>
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<td>
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<span class="mim-font">
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MODY, type II
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</span>
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</td>
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<td>
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<span class="mim-font">
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125851
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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GCK
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</span>
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</td>
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<td>
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<span class="mim-font">
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138079
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</span>
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</td>
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</tbody>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because maturity-onset diabetes of the young type 2 (MODY2) is caused by heterozygous mutation in the GCK gene (138079) on chromosome 7p13.</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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<strong>Description</strong>
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<p>MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.</p><p>In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France. </p>
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<strong>Mapping</strong>
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<p>Froguel et al. (1992) reported linkage between MODY in 16 French families and the GCK locus on chromosome 7. There was statistically significant evidence of genetic heterogeneity, with an estimated 45 to 95% of the 16 families showing linkage to glucokinase. In those families with linkage to GCK, the possibility of direct etiologic relationship to variation at the GCK locus was raised by Froguel et al. (1992). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a French family with MODY mapping to chromosome 7, previously studied by Froguel et al. (1992), Vionnet et al. (1992) identified a point mutation in the GCK gene (138079.0001). </p><p>Hattersley et al. (1998) found that mutations in the GCK gene result in reduced birth weight as well as causing MODY. </p><p>Barrio et al. (2002) estimated the prevalence of major MODY subtypes in Spanish MODY families and analyzed genotype-phenotype correlations. Twenty-two unrelated pediatric MODY patients and 97 relatives were screened for mutations in the coding region of the GCK, HNF1A (142410), and HNF4A (600281) genes using PCR-SSCP and/or direct sequencing. Mutations in MODY genes were identified in 64% of the families. GCK/MODY2 mutations were the most frequently found, in 41%: 7 novel and 2 theretofore described mutations. The age at diagnosis was prepubertal in MODY2 index patients and pubertal in MODY3 patients. Overt diabetes was rare in MODY2 and was invariably present in MODY3 index patients. Chronic complications of diabetes were absent in the MODY2 population and were present in more than 40% of all relatives of MODY3 patients. Birth weight was lower in the presence of a GCK fetal mutation when the mutation was of paternal origin. The authors concluded that mutations in the GCK/MODY2 gene are the most common cause of MODY in their population of pediatric and adolescent index patients. Clinical expression of MODY3 and MODY1 mutations, the second and third groups of defects found, was more severe, including the frequent development of chronic complications. </p><p>Vits et al. (2006) identified 19 different GCK mutations, including 11 novel mutations (see, e.g., 138079.0014), in 33 (26.6%) of 124 Belgian probands with MODY. </p><p>Pinterova et al. (2007) screened the GCK gene in 92 Czech probands fulfilling classic MODY criteria and identified 15 different missense mutations in 27 (29%) patients; the mutations were not found in 50 unrelated healthy Czech individuals. Pinterova et al. (2007) concluded that mutations in GCK are a common cause of MODY in the Czech population. </p><p>In a mainland Chinese family with a clinical profile similar to that of previously reported MODY2 families, Shen et al. (2011) analyzed the GCK gene and identified a heterozygous missense mutation (E339K; 138079.0016) that segregated with the disease and was not found in 200 controls. The authors noted that MODY2 was rare in Asian families and that mutation in the GCK gene had not previously been reported in MODY patients from the Chinese mainland. </p><p>Mirshahi et al. (2022) comprehensively assessed the penetrance and prevalence of pathogenic variants in HNF1A, HNF4A, and GCK that account for more than 80% of monogenic diabetes. Mirshahi et al. (2022) analyzed clinical and genetic data from 1,742 clinically referred probands, 2,194 family members, clinically unselected individuals from a US health system-based cohort of 132,194 individuals, and a UK population-based cohort of 198,748 individuals, and found that 1 in 1,500 individuals harbor a pathogenic variant in one of these genes. The penetrance of pathogenic GCK variants was similar (89 to 97%) across all cohorts. The penetrance of diabetes for HNF1A and HNF4A pathogenic variants was substantially lower in the clinically unselected individuals compared to clinically referred probands and was dependent on the setting (32% in the population, 49% in the health system cohort, 86% in a family member, and 98% in probands for HNF1A). The relative risk of diabetes was similar across the clinically unselected cohorts, highlighting the role of environment/ other genetic factors. The authors suggested that for HNF1A and HNF4A, genetic interpretation and counseling should be tailored to the setting in which a pathogenic monogenic variant was identified. GCK is an exception with near-complete penetrance in all settings. </p>
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<strong>Animal Model</strong>
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<p>Using N-ethyl-N-nitrosourea (ENU) mutagenesis, Inoue et al. (2004) generated diabetic mice. The authors screened 9,375 animals and identified 11 mutations in the glucokinase (Gk) gene that were associated with hyperglycemia. Four of the mutations had previously been found in patients with MODY2, and 1 had been found in a patient with permanent neonatal diabetes mellitus (PNDM1; 606176). Some of the Gk mutant lines displayed impaired glucose-responsive insulin secretion, and the mutations had different effects on Gk mRNA levels and/or the stability of the GK protein. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Barrio, R., Bellanne-Chantelot, C., Moreno, J. C., Morel, V., Calle, H., Alonso, M., Mustieles, C.
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<strong>Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.</strong>
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J. Clin. Endocr. Metab. 87: 2532-2539, 2002.
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[PubMed: 12050210]
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[Full Text: https://doi.org/10.1210/jcem.87.6.8530]
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Fajans, S. S., Bell, G. I., Polonsky, K. S.
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<strong>Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.</strong>
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New Eng. J. Med. 345: 971-980, 2001.
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[PubMed: 11575290]
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[Full Text: https://doi.org/10.1056/NEJMra002168]
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Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A., Cohen, D.
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<strong>Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.</strong>
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Nature 356: 162-164, 1992. Note: Erratum: Nature 357: 607 only, 1992.
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[PubMed: 1545870]
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[Full Text: https://doi.org/10.1038/356162a0]
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Froguel, P., Velho, G., Cohen, D., Passa, P.
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<strong>Strategies for the collection of sibling-pair data for genetic studies in type 2 (non insulin-dependent) diabetes mellitus. (Letter)</strong>
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Diabetologia 34: 685 only, 1991.
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[PubMed: 1955104]
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[Full Text: https://doi.org/10.1007/BF00401001]
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Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., Patel, P., Lo, Y.-M. D., Hattersley, A. T., Luthman, H., Wedell, A., St. Charles, R., Harrison, R. W., Weber, I. T., Bell, G. I., Pilkis, S. J.
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<strong>Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.</strong>
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Proc. Nat. Acad. Sci. 90: 1932-1936, 1993.
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[PubMed: 8446612]
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[Full Text: https://doi.org/10.1073/pnas.90.5.1932]
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Hattersley, A. T., Beards, F., Ballantyne, E., Appleton, M., Harvey, R., Ellard, S.
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<strong>Mutations in the glucokinase gene of the fetus result in reduced birth weight.</strong>
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Nature Genet. 19: 268-270, 1998.
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[PubMed: 9662401]
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[Full Text: https://doi.org/10.1038/953]
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Inoue, M., Sakuraba, Y., Motegi, H., Kubota, N., Toki, H., Matsui, J., Toyoda, Y., Miwa, I., Terauchi, Y., Kadowaki, T., Shigeyama, Y., Kasuga, M.
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<strong>A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.</strong>
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Hum. Molec. Genet. 13: 1147-1157, 2004.
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[PubMed: 15102714]
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[Full Text: https://doi.org/10.1093/hmg/ddh133]
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Mirshahi, U. L., Colclough, K., Wright, C. F., Wood, A. R., Beaumont, R. N., Tyrrell, J., Laver, T. W., Stahl, R., Golden, A., Goehringer, J. M, Geisinger-Regeneron DiscovEHR Collaboration, Frayling, T. F., Hattersley, A. T., Carey, D. J., Weedon, M. N., Patel, K. A.
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<strong>Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.</strong>
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Am. J. Hum. Genet. 109: 2018-2028, 2022.
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[PubMed: 36257325]
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[Full Text: https://doi.org/10.1016/j.ajhg.2022.09.014]
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Pinterova, D., Ek, J., Kolostova, K., Pruhova, S., Novota, P., Romzova, M., Feigerlova, E., Cerna, M., Lebl, J., Pedersen, O., Hansen, T.
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<strong>Six novel mutations in the GCK gene in MODY patients. (Letter)</strong>
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Clin. Genet. 71: 95-96, 2007.
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[PubMed: 17204055]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00729.x]
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Shen, Y., Cai, M., Liang, H., Wang, H., Weng, J.
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<strong>Insight into the biochemical characteristics of a novel glucokinase gene mutation.</strong>
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Hum. Genet. 129: 231-238, 2011.
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[PubMed: 21104275]
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[Full Text: https://doi.org/10.1007/s00439-010-0914-4]
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Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P., Cohen, D.
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<strong>Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.</strong>
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Nature 356: 721-722, 1992.
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[PubMed: 1570017]
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[Full Text: https://doi.org/10.1038/356721a0]
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Vits, L., Beckers, D., Craen, M., de Beaufort, C., Vanfleteren, E., Dahan, K., Nollet, A., Vanhaverbeke, G., Imschoot, S. V., Bourguignon, J.-P., Beauloye, V., Storm, K., Massa, G., Giri, M., Nobels, F., De Schepper, J., Rooman, R., Van den Bruel, A., Mathieu, C., Wuyts, W.
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<strong>Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. (Letter)</strong>
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Clin. Genet. 70: 355-359, 2006.
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[PubMed: 16965331]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00686.x]
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Ada Hamosh - updated : 01/17/2023<br>Marla J. F. O'Neill - updated : 11/2/2012<br>Marla J. F. O'Neill - updated : 4/19/2010<br>Marla J. F. O'Neill - updated : 3/9/2007<br>Cassandra L. Kniffin - updated : 11/2/2006<br>George E. Tiller - updated : 8/31/2006<br>John A. Phillips, III - updated : 1/10/2003<br>Ada Hamosh - updated : 10/18/2001<br>John A. Phillips, III - updated : 9/29/2000
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Victor A. McKusick : 5/4/1992
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alopez : 01/17/2023<br>carol : 05/01/2020<br>alopez : 04/30/2020<br>carol : 08/12/2015<br>carol : 11/6/2012<br>terry : 11/2/2012<br>terry : 7/5/2012<br>alopez : 4/22/2010<br>terry : 4/19/2010<br>terry : 9/11/2009<br>joanna : 9/4/2009<br>terry : 2/19/2009<br>wwang : 3/13/2007<br>terry : 3/9/2007<br>carol : 11/3/2006<br>ckniffin : 11/2/2006<br>alopez : 8/31/2006<br>alopez : 1/10/2003<br>carol : 10/18/2001<br>carol : 10/18/2001<br>mgross : 10/3/2000<br>terry : 9/29/2000<br>alopez : 12/3/1999<br>alopez : 11/4/1999<br>mgross : 11/4/1999<br>alopez : 12/3/1997<br>mark : 9/29/1997<br>mimadm : 6/25/1994<br>carol : 5/14/1993<br>carol : 5/28/1992<br>carol : 5/4/1992
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