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find">&#10008;</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">&#9664;</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">&#9654;</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK543113_"><span class="title" itemprop="name">Resources for Genetics Professionals &#x02014; Genetic Disorders Associated with Founder Variants Common in the Navajo Population</span></h1><p class="contribs">Wallace SE, Bean LJH.</p><p class="fm-aai"><a href="#_NBK543113_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 3 minutes</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>A founder variant is a pathogenic variant 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 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 common founder variants &#x02013; here defined as <b>three or fewer variants that account for &#x0003e;50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry</b> &#x02013; in individuals of Navajo 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 class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figfoundernavajoTgeneticdisordersassoc"><a href="/books/NBK543113/table/founder_navajo.T.genetic_disorders_assoc/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfoundernavajoTgeneticdisordersassoc"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="founder_navajo.T.genetic_disorders_assoc"><a href="/books/NBK543113/table/founder_navajo.T.genetic_disorders_assoc/?report=objectonly" target="object" rid-ob="figobfoundernavajoTgeneticdisordersassoc">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Navajo Population </p></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 carrier frequencies, added <a class="bibr" href="#founder_navajo.REF.holve.2003.169" rid="founder_navajo.REF.holve.2003.169">Holve et al [2003]</a>, <a class="bibr" href="#founder_navajo.REF.bitting.2016.463" rid="founder_navajo.REF.bitting.2016.463">Bitting &#x00026; Hanson [2016]</a>, <a class="bibr" href="#founder_navajo.REF.schlegel.2018.356" rid="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"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 28209105</span></a>]</div></p></li><li class="half_rhythm"><p><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&#x02013;42.
[<a href="/pmc/articles/PMC3069503/" ref="pagearea=cite-ref&amp;targetsite=entrez&amp;targetcat=link&amp;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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 21271650</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 12833395</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 11424134</span></a>]</div></p></li><li class="half_rhythm"><p><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&#x02013;8.
[<a href="/pmc/articles/PMC1559552/" ref="pagearea=cite-ref&amp;targetsite=entrez&amp;targetcat=link&amp;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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 16909392</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 25762520</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 7833949</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 29218485</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 16155570</span></a>]</div></p></li><li class="half_rhythm"><p><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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 12124406</span></a>]</div></p></li><li class="half_rhythm"><p><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&#x02013;72.
[<a href="/pmc/articles/PMC420013/" ref="pagearea=cite-ref&amp;targetsite=entrez&amp;targetcat=link&amp;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&amp;targetsite=entrez&amp;targetcat=link&amp;targettype=pubmed">PubMed<span class="bk_prnt">: 12469324</span></a>]</div></p></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK543113_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><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><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">June 27, 2019</span>; Last Revision: <span itemprop="dateModified">November 3, 2022</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> &#x000a9; 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&amp;targetsite=external&amp;targetcat=link&amp;targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Wallace SE, Bean LJH. Resources for Genetics Professionals &#x02014; 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&#x000ae; [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/founder_metis/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/founder_newfl/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobfoundernavajoTgeneticdisordersassoc"><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&#x000a0;<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&#x000a0;<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/?report=reader">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&#x0003e;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%&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_000487<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.pastorsoler.1994.199" rid="founder_navajo.REF.pastorsoler.1994.199">Pastor-Soler et al [1994]</a>, <a class="bibr" href="#founder_navajo.REF.holve.2001.203" rid="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&amp;targetsite=external&amp;targetcat=link&amp;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&#x0003e;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%&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_001033855<wbr style="display:inline-block"></wbr>&#8203;.3</a>
<br />
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001029027.1" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NP_001029027<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.kwan.2015.29" rid="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/?report=reader"><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&#x0003e;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%&#x000a0;<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&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_005522<wbr style="display:inline-block"></wbr>&#8203;.5</a>
<br />
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005513.2" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NP_005513<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.holve.2003.169" rid="founder_navajo.REF.holve.2003.169">Holve et al [2003]</a>, <a class="bibr" href="#founder_navajo.REF.tischfield.2005.1035" rid="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/?report=reader"><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&#x0003e;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%&#x000a0;<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&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_002437<wbr style="display:inline-block"></wbr>&#8203;.5</a>
<br />
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_002428.1" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NP_002428<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.karadimas.2006.544" rid="founder_navajo.REF.karadimas.2006.544">Karadimas et al [2006]</a>, <a class="bibr" href="#founder_navajo.REF.bitting.2016.463" rid="founder_navajo.REF.bitting.2016.463">Bitting &#x00026; 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&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;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&#x0003e;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%&#x000a0;<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&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_001080467<wbr style="display:inline-block"></wbr>&#8203;.3</a>
<br />
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001073936.1" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NP_001073936<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.schlegel.2018.356" rid="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&amp;targetsite=external&amp;targetcat=link&amp;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%&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NG_009846<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.yi.2003.62" rid="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&amp;targetsite=external&amp;targetcat=link&amp;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 gene)</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%&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NG_012202<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.whyte.2002.175" rid="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/?report=reader">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%&#x000a0;<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&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NM_024598<wbr style="display:inline-block"></wbr>&#8203;.4</a>
<br />
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_078874.2" ref="pagearea=body&amp;targetsite=external&amp;targetcat=link&amp;targettype=uri">NP_078874<wbr style="display:inline-block"></wbr>&#8203;.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="bibr" href="#founder_navajo.REF.clericuzio.2011.337" rid="founder_navajo.REF.clericuzio.2011.337">Clericuzio et al [2011]</a>
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Included if &#x02264;3 pathogenic variants account for &#x02265;50% of variants identified in a specific ethnic group</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AR = autosomal recessive; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><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></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="founder_navajo.TF.e.2"><p class="no_margin">Percentage does not account for the possibility of rare <i>de novo</i> pathogenic variants occurring in this population.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="founder_navajo.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this gene have not been reported in individuals of Navajo descent.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="founder_navajo.TF.e.4"><p class="no_margin">Calculated carrier 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></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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