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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Georgian Jewish Population" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2022/09/29" /><meta name="citation_author" content="Stephanie E Wallace" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK584551/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Georgian Jewish Population" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Stephanie E Wallace" /><meta name="DC.Date" content="2022/09/29" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK584551/" /><meta name="description" content="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." /><meta name="og:title" content="Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Georgian Jewish Population" /><meta name="og:type" content="book" /><meta name="og:description" content="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." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK584551/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/founder_georgian_jewish/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK584551/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.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><meta name="book-collection" content="NONE" />
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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="#__NBK584551_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK584551_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_finnish/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/founder_gitxsan/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK584551_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Georgian Jewish Population</span></h1><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK584551_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK584551_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, 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><p class="small">Initial Posting: <span itemprop="datePublished">September 29, 2022</span>.</p><p><em>Estimated reading time: 1 minute</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A <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 Georgian Jewish 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_georgian_jewish.T.genetic_disord" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Georgian Jewish Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK584551/table/founder_georgian_jewish.T.genetic_disord/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_georgian_jewish.T.genetic_disord_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_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_georgian_jewish.T.genetic_disord_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Pathogenic Variants in Gene <sup>1</sup></th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_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_georgian_jewish.T.genetic_disord_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity</th><th id="hd_h_founder_georgian_jewish.T.genetic_disord_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_georgian_jewish.T.genetic_disord_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_georgian_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ADA2</i>
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</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ada2-def/">Adenosine deaminase 2 deficiency</a>
|
||
</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.139G>A</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly47Arg</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>2</sup></td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/10</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Georgian Jewish</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_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_001282225.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001282225<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001269154.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001269154<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bk_pop" href="#founder_georgian_jewish.REF.hashem.2017.70">Hashem et al [2017]</a>
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</td></tr><tr><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CFTR</i>
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</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/cf/">Cystic fibrosis</a>
|
||
</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1075_1079delCAAACinsAAAAA</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln359_Thr360delinsLysLys</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">70%</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/26</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Georgian Jewish</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_9" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000492.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000492<wbr style="display:inline-block"></wbr>.4</a>
|
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<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000483.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000483<wbr style="display:inline-block"></wbr>.3</a>
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</td><td headers="hd_h_founder_georgian_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a class="bk_pop" href="#founder_georgian_jewish.REF.meizahav.2018.e41">Mei-Zahav et al [2018]</a>
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</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_georgian_jewish.TF.e.1"><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>2. </dt><dd><div id="founder_georgian_jewish.TF.e.2"><p class="no_margin">To date, no additional pathogenic variants in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> have been reported in individuals of this ethnicity.</p></div></dd></dl></div></div></div><div id="founder_georgian_jewish.References"><h2 id="_founder_georgian_jewish_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_georgian_jewish.REF.hashem.2017.70">Hashem H, Kelly SJ, Ganson NJ, Hershfield MS. Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatologic disorders. <span><span class="ref-journal">Curr Rheumatol Rep. </span>2017;<span class="ref-vol">19</span>:70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28983775" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28983775</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_georgian_jewish.REF.meizahav.2018.e41">Mei-Zahav M, Stafler P, Senderowitz H, Bentur L, Livnat G, Shteinberg M, Orenstein N, Bazak L, Prais D, Levine H, Gur M, Khazanov N, Simhaev L, Eliyahu H, Cohen M, Wilschanski M, Blau H, Mussaffi H. The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews. <span><span class="ref-journal">J Cyst Fibros. </span>2018;<span class="ref-vol">17</span>:e41–e45.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30033373" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30033373</span></a>]</div></li></ul></div><div id="founder_georgian_jewish.Revision_History"><h2 id="_founder_georgian_jewish_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>29 September 2022 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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