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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 class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK543113_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK543113_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/founder_metis/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/founder_newfl/" title="Next page in this title">Next ></a></div></div></div></div></div>
|
||
<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK543113_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Navajo Population</span></h1><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD and <span itemprop="author">Lora JH Bean</span>, PhD.</p><a data-jig="ncbitoggler" href="#__NBK543113_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK543113_ai__"><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, 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">Lora JH Bean</span>, PhD<div class="affiliation small">Molecular Genetics Editor, <i>GeneReviews</i></div><div class="affiliation small">Senior Director, Laboratory Quality Assurance<br />Perkin-Elmer Genomics, Inc<br />Pittsburgh, Pennsylvania</div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">June 27, 2019</span>; Last Revision: <span itemprop="dateModified">November 3, 2022</span>.</p><p><em>Estimated reading time: 3 minutes</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> is a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> observed at 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 <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. 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 common founder variants – here defined as <b>three or fewer variants that account for >50% of the pathogenic variants identified in a single <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> in individuals of a specific ancestry</b> – in individuals of Navajo ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence <a class="def" href="/books/n/gene/glossary/def-item/hot-spot/">hot spot</a> are not considered founder variants and thus are not included.</p><div id="founder_navajo.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 Navajo Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK543113/table/founder_navajo.T.genetic_disorders_assoc/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_navajo.T.genetic_disorders_assoc_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_navajo.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_navajo.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_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants in Gene <sup>2</sup></th><th id="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Carrier Frequency</th><th id="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity (Specific Region)</th><th id="hd_h_founder_navajo.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_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ARSA</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/mld/">Arylsulfatase A deficiency</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.854+1G>A</td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/25 to 1/50</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo (Western Navajo Nation)</td><td headers="hd_h_founder_navajo.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_000487.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000487<wbr style="display:inline-block"></wbr>.6</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_navajo.REF.pastorsoler.1994.199">Pastor-Soler et al [1994]</a>, <a class="bk_pop" href="#founder_navajo.REF.holve.2001.203">Holve et al [2001]</a></td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DCLRE1C</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe combined immunodeficiency (SCID-A)<br />(OMIM <a href="https://omim.org/entry/602450" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602450</a>)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.597C>A</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Tyr199Ter</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1/20 to 1/25</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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_001033855.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001033855<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001029027.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001029027<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_navajo.REF.kwan.2015.29">Kwan et al [2015]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HOXA1</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo brain stem syndrome<br />(See <a href="/books/n/gene/hoxa1-dis/"><i>HOXA1</i>-Related Disorders</a>.)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.76C>T</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg26Ter</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/28 <sup>4</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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_005522.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005522<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005513.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005513<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_navajo.REF.holve.2003.169">Holve et al [2003]</a>, <a class="bk_pop" href="#founder_navajo.REF.tischfield.2005.1035">Tischfield et al [2005]</a></td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MPV17</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Navajo neurohepatopathy<br />(See <a href="/books/n/gene/mpv17-mtdep/"><i>MPV17</i>-Related Mitochondrial DNA Maintenance Defect</a>.)</td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">c.149G>A</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg50Gln</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26 <sup>4</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo (Western Navajo Nation)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_9" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002437.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_002437<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002428.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_002428<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_navajo.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_navajo.REF.karadimas.2006.544">Karadimas et al [2006]</a>, <a class="bk_pop" href="#founder_navajo.REF.bitting.2016.463">Bitting & Hanson [2016]</a></td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">1/60 <sup>4</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo (Eastern)</td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYO5B</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microvillus inclusion disease<br />(OMIM <a href="https://omim.org/entry/251850" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">251850</a>)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1979C>T</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro660Leu</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/55 <sup>4</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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_001080467.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001080467<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001073936.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001073936<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_navajo.REF.schlegel.2018.356">Schlegel et al [2018]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>OCA2</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculocutaneous albinism type 2 (OMIM <a href="https://omim.org/entry/203200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">203200</a>)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.103171_225796del<br />(c.1044+1363_2080-6952; 122.5-kb del,<br />incl exons 10-20)</td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1/22</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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/NG_009846.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_009846<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_navajo.REF.yi.2003.62">Yi et al [2003]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TNFRSF11B</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Paget's disease<br />(OMIM <a href="https://omim.org/entry/239000" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">239000</a>)</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">g.119932595_120030098del97504<br />(~100 kb del, incl entire <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>)</td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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/NG_012202.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NG_012202<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_navajo.REF.whyte.2002.175">Whyte et al [2002]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>USB1</i>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/poikiloderma-n/">Poikiloderma w/ neutropenia</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.499delA</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Thr160ProfsTer98</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_navajo.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_navajo.T.genetic_disorders_assoc_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Navajo</td><td headers="hd_h_founder_navajo.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_024598.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024598<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_078874.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_078874<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_navajo.T.genetic_disorders_assoc_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_navajo.REF.clericuzio.2011.337">Clericuzio et al [2011]</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 = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="founder_navajo.TF.e.1"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd><dt>2. </dt><dd><div id="founder_navajo.TF.e.2"><p class="no_margin">Percentage does not account for the possibility of rare <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variants occurring in this population.</p></div></dd><dt>3. </dt><dd><div id="founder_navajo.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> have not been reported in individuals of Navajo descent.</p></div></dd><dt>4. </dt><dd><div id="founder_navajo.TF.e.4"><p class="no_margin">Calculated <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> frequency based on the incidence of the disorder in individuals of Navajo ancestry; estimated carrier frequency is not based on molecular testing of the population.</p></div></dd></dl></div></div></div><div id="founder_navajo.Revision_History"><h2 id="_founder_navajo_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>3 November 2022 (sw) Revision: updated <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> frequencies, added <a class="bk_pop" href="#founder_navajo.REF.holve.2003.169">Holve et al [2003]</a>, <a class="bk_pop" href="#founder_navajo.REF.bitting.2016.463">Bitting & Hanson [2016]</a>, <a class="bk_pop" href="#founder_navajo.REF.schlegel.2018.356">Schlegel et al [2018]</a></div></li><li class="half_rhythm"><div>27 June 2019 (sw) Initial posting</div></li></ul></div><div id="founder_navajo.References"><h2 id="_founder_navajo_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.bitting.2016.463">Bitting
|
||
CP, Hanson
|
||
JA. Navajo neurohepatopathy: a case report and literature review emphasizing clinicopathologic diagnosis.
|
||
Acta Gastroenterol Belg.
|
||
2016;79:463-9.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/28209105" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28209105</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.clericuzio.2011.337">Clericuzio
|
||
C, Harutyunyan
|
||
K, Jin
|
||
W, Erickson
|
||
RP, Irvine
|
||
AD, McLean
|
||
WH, Wen
|
||
Y, Bagatell
|
||
R, Griffin
|
||
TA, Shwayder
|
||
TA, Plon
|
||
SE, Wang
|
||
LL. Identification of a novel C16orf57 mutation in Athabaskan patients with poikiloderma with neutropenia.
|
||
Am J Med Genet A.
|
||
2011;155A:337–42.
|
||
[<a href="/pmc/articles/PMC3069503/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3069503</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21271650" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21271650</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.holve.2003.169">Holve
|
||
S, Friedman
|
||
B, Hoyme
|
||
HE, Tarby
|
||
TJ, Johnstone
|
||
SJ, Erickson
|
||
RP, Clericuzio
|
||
CL, Cunniff
|
||
C. Athabascan brainstem dysgenesis syndrome.
|
||
Am J Med Genet A.
|
||
2003;120A:169-73.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/12833395" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12833395</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.holve.2001.203">Holve
|
||
S, Hu
|
||
D, McCandless
|
||
SE. Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian Wars of the nineteenth century.
|
||
Am J Med Genet.
|
||
2001;101:203-8.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/11424134" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11424134</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.karadimas.2006.544">Karadimas
|
||
CL, Vu
|
||
TH, Holve
|
||
SA, Chronopoulou
|
||
P, Quinzii
|
||
C, Johnsen
|
||
SD, Kurth
|
||
J, Eggers
|
||
E, Palenzuela
|
||
L, Tanji
|
||
K, Bonilla
|
||
E, De Vivo
|
||
DC, DiMauro
|
||
S, Hirano
|
||
M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
|
||
Am J Hum Genet.
|
||
2006;79:544–8.
|
||
[<a href="/pmc/articles/PMC1559552/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1559552</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/16909392" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16909392</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.kwan.2015.29">Kwan
|
||
A, Hu
|
||
D, Song
|
||
M, Gomes
|
||
H, Brown
|
||
DR, Bourque
|
||
T, Gonzalez-Espinosa
|
||
D, Lin
|
||
Z, Cowan
|
||
MJ, Puck
|
||
JM. Successful newborn screening for SCID in the Navajo Nation.
|
||
Clin Immunol.
|
||
2015;158:29-34.
|
||
[<a href="/pmc/articles/PMC4420660/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4420660</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25762520" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25762520</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.pastorsoler.1994.199">Pastor-Soler
|
||
NM, Rafi
|
||
MA, Hoffman
|
||
JD, Hu
|
||
D, Wenger
|
||
DA. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
|
||
Hum Mutat.
|
||
1994;4:199-207.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/7833949" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7833949</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.schlegel.2018.356">Schlegel
|
||
C, Weis
|
||
VG, Knowles
|
||
BC, Lapierre
|
||
LA, Martin
|
||
MG, Dickman
|
||
P, Goldenring
|
||
JR, Shub
|
||
MD. Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease.
|
||
Dig Dis Sci.
|
||
2018;63:356-65.
|
||
[<a href="/pmc/articles/PMC5797493/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5797493</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29218485" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29218485</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.tischfield.2005.1035">Tischfield
|
||
MA, Bosley
|
||
TM, Salih
|
||
MA, Alorainy
|
||
IA, Sener
|
||
EC, Nester
|
||
MJ, Oystreck
|
||
DT, Chan
|
||
WM, Andrews
|
||
C, Erickson
|
||
RP, Engle
|
||
EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
|
||
Nat Genet.
|
||
2005;37:1035-7.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/16155570" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16155570</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.whyte.2002.175">Whyte
|
||
MP, Obrecht
|
||
SE, Finnegan
|
||
PM, Jones
|
||
JL, Podgornik
|
||
MN, McAlister
|
||
WH, Mumm
|
||
S. Osteoprotegerin deficiency and juvenile Paget's disease.
|
||
N Engl J Med.
|
||
2002;347:175-84.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/12124406" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12124406</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_navajo.REF.yi.2003.62">Yi
|
||
Z, Garrison
|
||
N, Cohen-Barak
|
||
O, Karafet
|
||
TM, King
|
||
RA, Erickson
|
||
RP, Hammer
|
||
MF, Brilliant
|
||
MH. A
|
||
122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.
|
||
Am J Hum Genet.
|
||
2003;72:62–72.
|
||
[<a href="/pmc/articles/PMC420013/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC420013</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12469324" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12469324</span></a>]</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK543113/?report=reader">PubReader</a></li><li><a href="/books/NBK543113/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK543113" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK543113" style="display:none" title="Cite this Page"><div class="bk_tt">Wallace SE, Bean LJH. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Navajo Population. 2019 Jun 27 [Updated 2022 Nov 3]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. 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