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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK584546_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Pueblo Population</span></h1><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, Department of Pediatrics<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.wu@2rotide" class="oemail">ude.wu@2rotide</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Ghayda M Mirzaa</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Seattle Children's Research Institute<br />Seattle, Washington</div></div><p class="small">Initial Posting: <span itemprop="datePublished">September 29, 2022</span>.</p><p><em>Estimated reading time: 1 minute</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A founder variant is a pathogenic variant observed in high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.</p><p>The table below includes <b>common founder variants</b> — here defined as <b>three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry</b> — in individuals of Pueblo ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.</p><div id="founder_pueblo.T.genetic_disorders_assoc" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Pueblo Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK584546/table/founder_pueblo.T.genetic_disorders_assoc/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_pueblo.T.genetic_disorders_assoc_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA<br />Nucleotide<br />Change</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted<br />Protein<br />Change</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Pathogenic Variants in Gene <sup>1</sup></th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_7" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Carrier<br />Frequency</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity<br />(Specific Region)</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_9" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_10" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">References</th></tr></thead><tbody><tr><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">CFTR</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
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||
<a href="/books/n/gene/cf/">Cystic fibrosis</a>
|
||
</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3484C>T</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1162Ter</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">70%</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pueblo</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000492.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000492<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000483.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000483<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_pueblo.REF.mercier.1994.629">Mercier et al [1994]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.3718-2477C>T<br />(3849+10kbC>T; IVS19 ds C-T+12191 <sup>1</sup>)</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">20%</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pueblo</td><td headers="hd_h_founder_pueblo.T.genetic_disorders_assoc_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000492.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000492<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group</p></div></dd><dt></dt><dd><div><p class="no_margin">AR = autosomal recessive; MOI = mode of inheritance</p></div></dd><dt>1. </dt><dd><div id="founder_pueblo.TF.e.1"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd></dl></div></div></div><div id="founder_pueblo.References"><h2 id="_founder_pueblo_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_pueblo.REF.mercier.1994.629">Mercier B, Raguénès O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, Bombieri C, Audrézet MP, Verlingue C, Férec C. Complete detection of mutations in cystic fibrosis patients of Native American origin. <span><span class="ref-journal">Hum Genet. </span>1994;<span class="ref-vol">94</span>:629–32.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7527370" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7527370</span></a>]</div></li></ul></div><div id="founder_pueblo.Revision_History"><h2 id="_founder_pueblo_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>29 September 2022 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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