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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or Ojibway Population - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or Ojibway Population">
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<meta name="citation_date" content="2023/06/01">
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<meta name="citation_author" content="Stephanie E Wallace">
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<meta name="citation_author" content="Lora JH Bean">
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id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</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="_NBK541231_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or Ojibway Population</span></h1><p class="contribs">Wallace SE, Bean LJH.</p><p class="fm-aai"><a href="#_NBK541231_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 – 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 Cree and/or Ojibway 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="figfoundercreeojibwayTgeneticdisorders"><a href="/books/NBK541231/table/founder_cree_ojibway.T.genetic_disorders/?report=objectonly" target="object" title="Table. " class="img_link icnblk_img" rid-ob="figobfoundercreeojibwayTgeneticdisorders"><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_cree_ojibway.T.genetic_disorders"><a href="/books/NBK541231/table/founder_cree_ojibway.T.genetic_disorders/?report=objectonly" target="object" rid-ob="figobfoundercreeojibwayTgeneticdisorders">Table. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders Associated with Founder Variants Common in the Cree and/or Ojibway Population </p></div></div><div id="founder_cree_ojibway.References"><h2 id="_founder_cree_ojibway_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.attanasio.2007.1018">Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. <span><span class="ref-journal">Nature Genet. </span>2007;<span class="ref-vol">39</span>:1018–24.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17618285" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17618285</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.carbone.1998.1312">Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. <span><span class="ref-journal">Am J Hum Genet. </span>1998;<span class="ref-vol">62</span>:1312–9.</span> [<a href="/pmc/articles/PMC1377163/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1377163</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/9585612" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9585612</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.crow.2003.183">Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. <span><span class="ref-journal">J. Med. Genet. </span>2003;<span class="ref-vol">40</span>:183–7.</span> [<a href="/pmc/articles/PMC1735395/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1735395</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/12624136" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12624136</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.crow.2006.917">Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. <span><span class="ref-journal">Nat Genet. </span>2006;<span class="ref-vol">38</span>:917–20.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16845398" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16845398</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.del_bigio.2011.866">Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D. Infantile muscular dystrophy in Canadian aboriginals is an alpha-B-crystallinopathy. <span><span class="ref-journal">Ann Neurol. </span>2011;<span class="ref-vol">69</span>:866–71.</span> [<a href="/pmc/articles/PMC3085857/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3085857</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21337604" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21337604</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.evrony.2017.1323">Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. <span><span class="ref-journal">Genome Res. </span>2017;<span class="ref-vol">27</span>:1323–35.</span> [<a href="/pmc/articles/PMC5538549/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5538549</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28630177" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28630177</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.fogli.2002.506">Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. <span><span class="ref-journal">Ann Neurol. </span>2002;<span class="ref-vol">52</span>:506–10.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12325082" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12325082</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.greenberg.2002.70">Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C. Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada. <span><span class="ref-journal">Mol Genet Metab. </span>2002;<span class="ref-vol">75</span>:70–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11825066" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11825066</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.hartley.2019.206">Hartley JN, Simard LR, Ly V, Del Bigio MR, Frosk P. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families. <span><span class="ref-journal">Am J Med Genet A. </span>2019;<span class="ref-vol">179</span>:206–18.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30556349" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30556349</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.pannicke.2013.2504">Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K. Deficiency of innate and acquired immunity caused by an IKBKB mutation. <span><span class="ref-journal">N Engl J Med. </span>2013;<span class="ref-vol">369</span>:2504–14.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24369075" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24369075</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.rubin.2018.742">Rubin TS, Rockman-Greenberg C, Van Caeseele P, Cuvelier GDE, Kwan L, Schroeder ML. Newborn screening for IKBKB deficiency in Manitoba, using genetic mutation analysis. <span><span class="ref-journal">J Clin Immunol. </span>2018;<span class="ref-vol">38</span>:742–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30288645" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30288645</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.slavotinek.2011.375">Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. <span><span class="ref-journal">J Med Genet. </span>2011;<span class="ref-vol">48</span>:375–82.</span> [<a href="/pmc/articles/PMC4294942/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4294942</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21507892" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21507892</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="founder_cree_ojibway.REF.uminski.2020.e28623">Uminski K, Houston DS, Hartley JN, Liu J, Cuvelier GDE, Israels SJ. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. <span><span class="ref-journal">Pediatr Blood Cancer. </span>2020;<span class="ref-vol">67</span>:e28623. </span> [<a href="https://pubmed.ncbi.nlm.nih.gov/32790119" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32790119</span></a>]</div></p></li></ul></div><div id="founder_cree_ojibway.Revision_History"><h2 id="_founder_cree_ojibway_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>1 June 2023 (sw) Revision: added sideroblastic anemia 2</div></li><li class="half_rhythm"><div>16 January 2020 (sw) Revision: added glutaric acidemia type 1</div></li><li class="half_rhythm"><div>16 May 2019 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK541231_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, 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">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">May 16, 2019</span>; Last Revision: <span itemprop="dateModified">June 1, 2023</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. 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<i>CRYAB</i>
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</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fatal infantile myofibrillar myopathy (OMIM <a href="https://omim.org/entry/613869" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613869</a>)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.60delC</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser21AlafsTer24</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(N Ontario & Alberta)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_001885.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001885<wbr style="display:inline-block"></wbr>​.3</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001876.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001876<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.del_bigio.2011.866" rid="founder_cree_ojibway.REF.del_bigio.2011.866">Del Bigio et al [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>DONSON</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microcephaly-micromelia syndrome (OMIM <a href="https://omim.org/entry/251230" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">251230</a>)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1047-9A>G<br />(IVS6-9A>G)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(N Saskatchewan)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_017613.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017613<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.evrony.2017.1323" rid="founder_cree_ojibway.REF.evrony.2017.1323">Evrony et al [2017]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>EIF2B5</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree leukoencephalopathy (See <a href="/books/n/gene/cach/?report=reader">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a>.)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.584G>A</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg195His</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(N Quebec & Manitoba)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_003907.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003907<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003898.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003898<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.fogli.2002.506" rid="founder_cree_ojibway.REF.fogli.2002.506">Fogli et al [2002]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FREM1</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manitoba oculotrichoanal syndrome (See <a href="/books/n/gene/mota/?report=reader"><i>FREM1</i> Autosomal Recessive Disorders</a>.)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.824+627_c.3840-1311del<br />(IVS7+631_IVS23-1311 del; del8-23 exon)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.385_1327del</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/7 to 1/12</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ojibway-Cree<br />(Island Lake, Manitoba)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_144966.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_144966<wbr style="display:inline-block"></wbr>​.5</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_659403.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_659403<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.slavotinek.2011.375" rid="founder_cree_ojibway.REF.slavotinek.2011.375">Slavotinek et al [2011]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GCDH</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/glutaric-a1/?report=reader">Glutaric acidemia type 1</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.91+5G>T<br />(IVS2+5G>T)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/17</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ojibway-Cree<br />(Island Lake, Manitoba, & NW Ontario)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_000159.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000159<wbr style="display:inline-block"></wbr>​.4</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.greenberg.2002.70" rid="founder_cree_ojibway.REF.greenberg.2002.70">Greenberg et al [2002]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>GLIS2</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/nephron-ov/?report=reader">Nephronophthisis-related ciliopathies</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.775+1G>T<br />(IVS5+1G>T)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ojibway-Cree<br />(Canada)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_032575.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032575<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.attanasio.2007.1018" rid="founder_cree_ojibway.REF.attanasio.2007.1018">Attanasio et al [2007]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>IKBKB</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Immunodeficiency 15B (OMIM <a href="https://omim.org/entry/615592" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615592</a>)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1292dupG</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln432ProfsTer62</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/13</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(Manitoba & Saskatchewan)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_001556.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001556<wbr style="display:inline-block"></wbr>​.3</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001547.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001547<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_cree_ojibway.REF.pannicke.2013.2504" rid="founder_cree_ojibway.REF.pannicke.2013.2504">Pannicke et al [2013]</a>, <a class="bibr" href="#founder_cree_ojibway.REF.rubin.2018.742" rid="founder_cree_ojibway.REF.rubin.2018.742">Rubin et al [2018]</a></td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PC</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/pdc/?report=reader">Pyruvate carboxylase deficiency</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1828G>A</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala610Thr</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Up to 1/10</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ojibway-Cree<br />(White Dog, Ontario)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_000920.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000920<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000911.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000911<wbr style="display:inline-block"></wbr>​.2</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.carbone.1998.1312" rid="founder_cree_ojibway.REF.carbone.1998.1312">Carbone et al [1998]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PRUNE1</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurodevelopmental disorder with microcephaly, hypotonia, & variable brain anomalies (OMIM <a href="https://omim.org/entry/617481" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617481</a>)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.521-2A>G<br />(IVS4-2A>G)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(N Manitoba)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_021222.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_021222<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a class="bibr" href="#founder_cree_ojibway.REF.hartley.2019.206" rid="founder_cree_ojibway.REF.hartley.2019.206">Hartley et al [2019]</a>
|
|
</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SLC25A38</i>
|
|
</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sideroblastic anemia 2 (OMIM <a href="https://omim.org/entry/205950" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">205950</a>)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.560G>A</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg187Gln</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(Canada)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_017875.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_017875<wbr style="display:inline-block"></wbr>​.4</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_060345.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_060345<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bibr" href="#founder_cree_ojibway.REF.uminski.2020.e28623" rid="founder_cree_ojibway.REF.uminski.2020.e28623">Uminski et al [2020]</a>
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</td></tr><tr><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>TREX1</i>
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</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree encephalitis (See <a href="/books/n/gene/ags/?report=reader">Aicardi-Goutières Syndrome</a>.)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.490C>T</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg164Ter</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cree<br />(Quebec)</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_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_033629.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033629<wbr style="display:inline-block"></wbr>​.6</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_338599.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_338599<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_founder_cree_ojibway.T.genetic_disorders_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bibr" href="#founder_cree_ojibway.REF.crow.2003.183" rid="founder_cree_ojibway.REF.crow.2003.183">Crow et al [2003]</a>, <a class="bibr" href="#founder_cree_ojibway.REF.crow.2006.917" rid="founder_cree_ojibway.REF.crow.2006.917">Crow et al [2006]</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 ≤3 pathogenic variants account for ≥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; N = Northern; NW = Northwest</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="founder_cree_ojibway.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_cree_ojibway.TF.e.2"><p class="no_margin">This 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_cree_ojibway.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this gene have not been reported in individuals of Cree and/or Ojibway descent (from region specified).</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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