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<title>
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Entry
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- #610069 - POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
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- OMIM
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<span class="h4">#610069</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="/phenotypicSeries/PS601228"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(POLYPOSIS SYNDROME, HEREDITARY MIXED) OR (BMPR1A)" 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=17145&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.diseaseinfosearch.org/x/8522" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610069[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157794" 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 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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<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/disease/DOID:0111686" 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/610069" 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://wormbase.org/resources/disease/DOID:0111686" 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>
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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>ORPHA:</strong> 157794<br />
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<strong>DO:</strong> 0111686<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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610069
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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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POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
|
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
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</th>
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<th>
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Polyposis syndrome, hereditary mixed, 2
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<a href="/entry/610069"> 610069 </a>
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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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BMPR1A
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<a href="/entry/601299"> 601299 </a>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/610069" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610069" 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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Polyposis syndrome, hereditary mixed
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- <a href="/phenotypicSeries/PS601228">PS601228</a>
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- 3 Entries
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<strong>Phenotype<br />mapping key</strong>
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<span class="mim-font">
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<a href="/entry/610069"> Polyposis syndrome, hereditary mixed, 2 </a>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/610069"> 610069 </a>
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<span class="mim-font">
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<a href="/entry/601299"> BMPR1A </a>
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<span class="mim-font">
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<a href="/entry/601299"> 601299 </a>
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<a href="/geneMap/15/42?start=-3&limit=10&highlight=42"> 15q13-q14 </a>
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<span class="mim-font">
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<a href="/entry/601228"> {Colorectal cancer, susceptibility to, 4} </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="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
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<span class="mim-font">
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<a href="/entry/601228"> 601228 </a>
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<span class="mim-font">
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<a href="/entry/601228"> HMPS1 </a>
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<span class="mim-font">
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<a href="/entry/601228"> 601228 </a>
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<span class="mim-font">
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<a href="/geneMap/15/42?start=-3&limit=10&highlight=42"> 15q13-q14 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/601228"> Polyposis syndrome, hereditary mixed 1 </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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<span class="mim-font">
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<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
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<span class="mim-font">
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<a href="/entry/601228"> 601228 </a>
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<span class="mim-font">
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<a href="/entry/601228"> HMPS1 </a>
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<span class="mim-font">
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<a href="/entry/601228"> 601228 </a>
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<a href="#mimPhenotypicSeriesFold" 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 of evidence that hereditary mixed polyposis syndrome-2 (HMPS2) is caused by heterozygous mutation in the BMPR1A (<a href="/entry/601299">601299</a>) gene on chromosome 10q23.</p>
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<p>Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer (<a href="#1" class="mim-tip-reference" title="Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y. <strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong> J. Med. Genet. 43: e13, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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/10.1136/jmg.2005.034827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16525031">Cao et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16525031" 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>For a discussion of genetic heterogeneity of HMPS, see HMPS1 (<a href="/entry/601228">601228</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y. <strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong> J. Med. Genet. 43: e13, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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/10.1136/jmg.2005.034827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16525031">Cao et al. (2006)</a> described two 3-generation Singapore Chinese families with hereditary mixed polyposis (HMPS), noting that the 15 affected members had colonic polyps very similar to those of the HMPS1 family 'SM96' described by <a href="#2" class="mim-tip-reference" title="Thomas, H. J. W., Whitelaw, S. C., Cottrell, S. E., Murday, V. A., Tomlinson, I. P. M., Markie, D., Jones, T., Bishop, D. T., Hodgson, S. V., Sheer, D., Northover, J. M. A., Talbot, I. C., Solomon, E., Bodmer, W. F. <strong>Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q.</strong> Am. J. Hum. Genet. 58: 770-776, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644741</a>]" pmid="8644741">Thomas et al. (1996)</a>, with polyps showing hyperplastic, adenomatous, or juvenile-type morphology. Juvenile-type polyps were documented in only 4 individuals and were atypical, associated with hyperplastic changes. One-third of patients were documented to have polyps with mixed juvenile and hyperplastic or mixed hyperplastic and adenomatous components on different visits. The mean age of diagnosis in these families was 32.4 years. More than half of the patients had polyps throughout the large bowel; 3 individuals from each family eventually developed colorectal cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8644741+16525031" 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 two 3-generation Singapore Chinese families with hereditary mixed polyposis, <a href="#1" class="mim-tip-reference" title="Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y. <strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong> J. Med. Genet. 43: e13, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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/10.1136/jmg.2005.034827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16525031">Cao et al. (2006)</a> excluded linkage to chromosome 15q. A genomewide linkage search on 15 family members from 'family 1' identified a 7-cM putative linkage interval on chromosome 10q23. Haplotype analysis of all 32 members from both families confirmed the linkage, with a maximum multipoint lod score of 4.6 (p less than 0.001); the 10q23.1-10q23.31 haplotypes segregated with disease in both families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16525031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of HMPS in both families reported by <a href="#1" class="mim-tip-reference" title="Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y. <strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong> J. Med. Genet. 43: e13, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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/10.1136/jmg.2005.034827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16525031">Cao et al. (2006)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16525031" 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 3-generation Singapore Chinese family (family 2) with hereditary mixed polyposis, <a href="#1" class="mim-tip-reference" title="Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y. <strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong> J. Med. Genet. 43: e13, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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/10.1136/jmg.2005.034827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16525031">Cao et al. (2006)</a> identified heterozygosity for an 11-bp deletion in the BMPR1A gene (<a href="/entry/601299#0009">601299.0009</a>). The deletion was not found in unaffected family members. In 2 affected members of 'family 1,' direct sequencing of all exons and flanking sequences of candidate genes BMPR1A, PTEN (<a href="/entry/601728">601728</a>), MINPP1 (<a href="/entry/605391">605391</a>), and PCDH21 (<a href="/entry/609502">609502</a>) revealed no detectable mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16525031" 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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Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y.
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<strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong>
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J. Med. Genet. 43: e13, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16525031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16525031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16525031[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=16525031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.034827" target="_blank">Full Text</a>]
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Thomas, H. J. W., Whitelaw, S. C., Cottrell, S. E., Murday, V. A., Tomlinson, I. P. M., Markie, D., Jones, T., Bishop, D. T., Hodgson, S. V., Sheer, D., Northover, J. M. A., Talbot, I. C., Solomon, E., Bodmer, W. F.
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<strong>Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q.</strong>
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Am. J. Hum. Genet. 58: 770-776, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Creation Date:
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Marla J. F. O'Neill : 4/21/2006
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carol : 08/20/2021
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alopez : 08/18/2021<br>alopez : 08/04/2015<br>carol : 10/16/2013<br>wwang : 4/21/2006<br>wwang : 4/21/2006
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<strong>#</strong> 610069
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POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
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<strong>ORPHA:</strong> 157794;
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<strong>DO:</strong> 0111686;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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10q23.2
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Polyposis syndrome, hereditary mixed, 2
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610069
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<span class="mim-font">
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3
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BMPR1A
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601299
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hereditary mixed polyposis syndrome-2 (HMPS2) is caused by heterozygous mutation in the BMPR1A (601299) gene on chromosome 10q23.</p>
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<strong>Description</strong>
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<p>Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer (Cao et al., 2006). </p><p>For a discussion of genetic heterogeneity of HMPS, see HMPS1 (601228).</p>
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<strong>Clinical Features</strong>
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<p>Cao et al. (2006) described two 3-generation Singapore Chinese families with hereditary mixed polyposis (HMPS), noting that the 15 affected members had colonic polyps very similar to those of the HMPS1 family 'SM96' described by Thomas et al. (1996), with polyps showing hyperplastic, adenomatous, or juvenile-type morphology. Juvenile-type polyps were documented in only 4 individuals and were atypical, associated with hyperplastic changes. One-third of patients were documented to have polyps with mixed juvenile and hyperplastic or mixed hyperplastic and adenomatous components on different visits. The mean age of diagnosis in these families was 32.4 years. More than half of the patients had polyps throughout the large bowel; 3 individuals from each family eventually developed colorectal cancer. </p>
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<strong>Mapping</strong>
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<p>In two 3-generation Singapore Chinese families with hereditary mixed polyposis, Cao et al. (2006) excluded linkage to chromosome 15q. A genomewide linkage search on 15 family members from 'family 1' identified a 7-cM putative linkage interval on chromosome 10q23. Haplotype analysis of all 32 members from both families confirmed the linkage, with a maximum multipoint lod score of 4.6 (p less than 0.001); the 10q23.1-10q23.31 haplotypes segregated with disease in both families. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of HMPS in both families reported by Cao et al. (2006) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a 3-generation Singapore Chinese family (family 2) with hereditary mixed polyposis, Cao et al. (2006) identified heterozygosity for an 11-bp deletion in the BMPR1A gene (601299.0009). The deletion was not found in unaffected family members. In 2 affected members of 'family 1,' direct sequencing of all exons and flanking sequences of candidate genes BMPR1A, PTEN (601728), MINPP1 (605391), and PCDH21 (609502) revealed no detectable mutations. </p>
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<strong>REFERENCES</strong>
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Cao, X., Eu, K. W., Kumarasinghe, M. P., Li, H. H., Loi, C., Cheah, P. Y.
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<strong>Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.</strong>
|
|
J. Med. Genet. 43: e13, 2006. Note: Electronic Article.
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[PubMed: 16525031]
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[Full Text: https://doi.org/10.1136/jmg.2005.034827]
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Thomas, H. J. W., Whitelaw, S. C., Cottrell, S. E., Murday, V. A., Tomlinson, I. P. M., Markie, D., Jones, T., Bishop, D. T., Hodgson, S. V., Sheer, D., Northover, J. M. A., Talbot, I. C., Solomon, E., Bodmer, W. F.
|
|
<strong>Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q.</strong>
|
|
Am. J. Hum. Genet. 58: 770-776, 1996.
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[PubMed: 8644741]
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</li>
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carol : 08/20/2021<br>alopez : 08/18/2021<br>alopez : 08/04/2015<br>carol : 10/16/2013<br>wwang : 4/21/2006<br>wwang : 4/21/2006
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