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<title>
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Entry
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- #620400 - PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9; PFBMFT9
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- OMIM
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<span class="h4">#620400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/620400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS614742"> <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="#inheritance">Inheritance</a>
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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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(PULMONARY FIBROSIS / BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED) OR (NOP10)" 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>
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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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<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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<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>
|
|
620400
|
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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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PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9; PFBMFT9
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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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 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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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>
|
|
<span class="mim-font">
|
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<a href="/geneMap/15/72?start=-3&limit=10&highlight=72">
|
|
15q14
|
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</a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/620400"> 620400 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
NOP10
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606471"> 606471 </a>
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/620400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS614742" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/620400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/620400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<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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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> RESPIRATORY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Lung </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Pulmonary fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51615001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51615001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002206</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> ABDOMEN </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Liver </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Non-alcoholic liver fibrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830561</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
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|
|
- Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br />
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</span>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93143009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93143009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162768007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162768007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/208.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Short telomeres <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829592</a>]</span><br />
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|
</span>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adult onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
Variable manifestations<br /> -
|
|
Genetic anticipation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span><br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
One family has been reported (last curated May 2023)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the NOP10 ribonucleoprotein gene (NOP10, <a href="/entry/606471#0002">606471.0002</a>)<br />
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|
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
|
|
</div>
|
|
</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related
|
|
- <a href="/phenotypicSeries/PS614742">PS614742</a>
|
|
- 9 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/848?start=-3&limit=10&highlight=848"> 3q26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614743"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614743"> 614743 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> TERC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602322"> 602322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
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|
|
|
<tr>
|
|
<td>
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<a href="/entry/620365"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 </a>
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<a href="/entry/617868"> NAF1 </a>
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<a href="/entry/617868"> 617868 </a>
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<a href="/entry/614742"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 </a>
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<a href="/entry/614742"> 614742 </a>
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<a href="/entry/620367"> ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 </a>
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<a href="/entry/606478"> POT1 </a>
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<a href="/entry/606478"> 606478 </a>
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<a href="/geneMap/12/909?start=-3&limit=10&highlight=909"> 12q24.31 </a>
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<a href="/entry/618674"> ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5 </a>
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<a href="/entry/620400"> ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 </a>
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<a href="/entry/616371"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4 </a>
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<a href="/entry/619767"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/619767"> 619767 </a>
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<a href="/entry/179835"> RPA1 </a>
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<a href="/entry/179835"> 179835 </a>
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<a href="/geneMap/20/478?start=-3&limit=10&highlight=478"> 20q13.33 </a>
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<a href="/entry/616373"> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/608833"> RTEL1 </a>
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<a href="/entry/608833"> 608833 </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 telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is caused by heterozygous mutation in the NOP10 gene (<a href="/entry/606471">606471</a>) on chromosome 15q14. One such family has been reported.</p>
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<p>Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is an autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. Affected individuals have shortened telomeres, but do not show mucocutaneous manifestations (<a href="#1" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" 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 telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (<a href="/entry/614742">614742</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al. (2020)</a> reported a large 3-generation family with variable pulmonary and hematologic abnormalities associated with short telomeres. The proband was a woman diagnosed with pulmonary fibrosis at 66 years of age. Three of her sibs, 2 of whom were deceased, also developed pulmonary fibrosis between 62 and 78 years of age; all were nonsmokers. Another sib and his son died of leukemia at ages 61 and 26, respectively. One of the sons of the proband had long-term leukopenia. The father of the proband, who died at age 80, had nonalcoholic liver cirrhosis. Mucocutaneous manifestations were not observed in this family. Five of the patients carried a heterozygous mutation in the NOP10 gene; 3 had pulmonary fibrosis and 1 had long-term leukopenia. The fifth individual with the mutation had no lung or blood disease at age 50. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" 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 PFBMFT9 in the family reported by <a href="#1" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al. (2020)</a> was consistent with autosomal dominant inheritance with incomplete penetrance. Genetic anticipation was also observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" 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 4 affected individuals from a large family with PFBMFT9, <a href="#1" class="mim-tip-reference" title="Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A. <strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong> Europ. Resp. J. 55: 1902465, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>] [<a href="https://doi.org/10.1183/13993003.02465-2019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139460">Kannengiesser et al. (2020)</a> identified a heterozygous missense mutation in the NOP10 gene (Y6C; <a href="/entry/606471#0002">606471.0002</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (<a href="/entry/300126">300126</a>) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" 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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Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A.
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<strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong>
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Europ. Resp. J. 55: 1902465, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139460" 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/10.1183/13993003.02465-2019" target="_blank">Full Text</a>]
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PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9; PFBMFT9
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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15q14
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?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
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620400
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Autosomal dominant
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NOP10
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606471
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<p>A number sign (#) is used with this entry because of evidence that telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is caused by heterozygous mutation in the NOP10 gene (606471) on chromosome 15q14. One such family has been reported.</p>
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<p>Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is an autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. Affected individuals have shortened telomeres, but do not show mucocutaneous manifestations (Kannengiesser et al., 2020). </p><p>For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).</p>
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<p>Kannengiesser et al. (2020) reported a large 3-generation family with variable pulmonary and hematologic abnormalities associated with short telomeres. The proband was a woman diagnosed with pulmonary fibrosis at 66 years of age. Three of her sibs, 2 of whom were deceased, also developed pulmonary fibrosis between 62 and 78 years of age; all were nonsmokers. Another sib and his son died of leukemia at ages 61 and 26, respectively. One of the sons of the proband had long-term leukopenia. The father of the proband, who died at age 80, had nonalcoholic liver cirrhosis. Mucocutaneous manifestations were not observed in this family. Five of the patients carried a heterozygous mutation in the NOP10 gene; 3 had pulmonary fibrosis and 1 had long-term leukopenia. The fifth individual with the mutation had no lung or blood disease at age 50. </p>
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<p>The transmission pattern of PFBMFT9 in the family reported by Kannengiesser et al. (2020) was consistent with autosomal dominant inheritance with incomplete penetrance. Genetic anticipation was also observed. </p>
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<p>In 4 affected individuals from a large family with PFBMFT9, Kannengiesser et al. (2020) identified a heterozygous missense mutation in the NOP10 gene (Y6C; 606471.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in 140,000 individuals in the gnomAD database. One unaffected family member also carried the mutation, suggesting incomplete penetrance. Functional studies of the mutation and studies of patient cells were not performed, but molecular modeling demonstrated that the affected residue is in a region in close contact with DKC1 (300126) and likely disrupts stability of the domain and the NOP10 complex. Patients with the mutation showed short telomeres, although 1 noncarrier also had short telomeres, suggesting that epigenetic factors may play a role in telomere length. </p>
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<strong>REFERENCES</strong>
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Kannengiesser, C., Manali, E. D., Revy, P., Callebaut, I., Ba, I., Borgel, A., Oudin, C., Haritou, A., Kolilekas, L., Malagari, K., Borie, R., Lainey, E., Boileau, C., Crestani, B., Papiris, S. A.
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<strong>First heterozygous NOP10 mutation in familial pulmonary fibrosis.</strong>
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Europ. Resp. J. 55: 1902465, 2020.
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[PubMed: 32139460]
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[Full Text: https://doi.org/10.1183/13993003.02465-2019]
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Cassandra L. Kniffin : 05/30/2023
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alopez : 06/01/2023<br>ckniffin : 05/30/2023
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