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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 Bukharan 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/NBK584548/" /><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 Bukharan 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/NBK584548/" /><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 Bukharan 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/NBK584548/" /><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_bukharan_jewish/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK584548/" /><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="#__NBK584548_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK584548_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_bedouin/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/founder_choctaw/" title="Next page in this title">Next ></a></div></div></div></div></div>
|
||
<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK584548_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Bukharan Jewish Population</span></h1><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK584548_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK584548_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: 2 minutes</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> is a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.</p><p>The table below includes common founder variants – here defined as <b>three or fewer variants that account for >50% of the pathogenic variants identified in a single <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> in individuals of a specific ancestry</b> – in individuals of Bukharan 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_bukharan_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 Bukharan Jewish Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK584548/table/founder_bukharan_jewish.T.genetic_disord/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_bukharan_jewish.T.genetic_disord_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_bukharan_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_bukharan_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_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_founder_bukharan_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>2</sup></th><th id="hd_h_founder_bukharan_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_bukharan_jewish.T.genetic_disord_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_bukharan_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_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ADAMTSL4</i>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/adamtsl4-eyes/"><i>ADAMTSL4</i>-related eye disorders</a>
|
||
</td><td headers="hd_h_founder_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2594G>A<br />(2663G>A)</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg865His<br />(Arg888His)</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/48</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish <sup>4</sup></td><td headers="hd_h_founder_bukharan_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_019032.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_019032<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_061905.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_061905<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_bukharan_jewish.REF.reinstein.2016.38">Reinstein et al [2016]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MTHFR</i>
|
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</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Methyltetrahydrofolate reductase deficiency (OMIM <a href="https://omim.org/entry/236250" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">236250</a>)</td><td headers="hd_h_founder_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.474A>T</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 5.</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>6</sup></td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/39</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish (Uzbekistan)</td><td headers="hd_h_founder_bukharan_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_005957.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005957<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_bukharan_jewish.REF.benshachar.2012.608">Ben-Shachar et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PAH</i>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<a href="/books/n/gene/pku/">Phenylalanine hydroxylase deficiency</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.533A>G</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu178Gly</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_6" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">79%</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_7" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_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_000277.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000277<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000268.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000268<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_bukharan_jewish.REF.bercovich.2008.305">Bercovich et al [2008]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.842C>T</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro281Leu</td></tr><tr><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TECPR2</i>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hsp/">Hereditary spastic paraparesis</a>
|
||
</td><td headers="hd_h_founder_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3416delT</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Leu1139ArgfsTer75</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100% <sup>3</sup></td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/27</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish</td><td headers="hd_h_founder_bukharan_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_014844.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_014844<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_055659.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_055659<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_bukharan_jewish.REF.ozlevi.2012.1065">Oz-Levi et al [2012]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>USH2A</i>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/usher2/">Usher syndrome type II</a>
|
||
</td><td headers="hd_h_founder_bukharan_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_bukharan_jewish.T.genetic_disord_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.12067-2A>G</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><100% <sup>6</sup></td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bukharan Jewish</td><td headers="hd_h_founder_bukharan_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_206933.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_206933<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_founder_bukharan_jewish.T.genetic_disord_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_bukharan_jewish.REF.auslender.2008.289">Auslender et al [2008]</a>, <a class="bk_pop" href="#founder_bukharan_jewish.REF.zlotogora.2015">Zlotogora [2015]</a></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group</p></div></dd><dt></dt><dd><div><p class="no_margin">AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="founder_bukharan_jewish.TF.e.1"><p class="no_margin">Variant designation that does not conform to current naming conventions</p></div></dd><dt>2. </dt><dd><div id="founder_bukharan_jewish.TF.e.2"><p class="no_margin">Percentage does not account for the possibility of rare <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variants occurring in this population.</p></div></dd><dt>3. </dt><dd><div id="founder_bukharan_jewish.TF.e.3"><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 (and/or from the specified region when indicated).</p></div></dd><dt>4. </dt><dd><div id="founder_bukharan_jewish.TF.e.4"><p class="no_margin">Individuals of Bukharan Jewish ancestry originating from Kazakhstan and Tajikistan</p></div></dd><dt>5. </dt><dd><div id="founder_bukharan_jewish.TF.e.5"><p class="no_margin">This substitution affects the nucleotide two base pairs upstream of the donor <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> of <a class="def" href="/books/n/gene/glossary/def-item/intron/">intron</a> 3 and is known to cause abnormal <a class="def" href="/books/n/gene/glossary/def-item/splicing/">splicing</a>.</p></div></dd><dt>6. </dt><dd><div id="founder_bukharan_jewish.TF.e.6"><p class="no_margin">At least one additional <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> reported in this population in ≥1 family</p></div></dd></dl></div></div></div><div id="founder_bukharan_jewish.References"><h2 id="_founder_bukharan_jewish_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.auslender.2008.289">Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. <span><span class="ref-journal">Genet Test. </span>2008;<span class="ref-vol">12</span>:289–94.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18452394" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18452394</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.benshachar.2012.608">Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A. A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews. <span><span class="ref-journal">Mol Genet Metab. </span>2012;<span class="ref-vol">107</span>:608–10.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22947400" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22947400</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.bercovich.2008.305">Bercovich D, Elimelech A, Yardeni T, Korem S, Zlotogora J, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. <span><span class="ref-journal">Ann Hum Genet. </span>2008;<span class="ref-vol">72</span>:305–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18294361" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18294361</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.ozlevi.2012.1065">Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. <span><span class="ref-journal">Am J Hum Genet. </span>2012;<span class="ref-vol">91</span>:1065–72.</span> [<a href="/pmc/articles/PMC3516605/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3516605</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23176824" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23176824</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.reinstein.2016.38">Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. <span><span class="ref-journal">Mol Genet Metab. </span>2016;<span class="ref-vol">117</span>:38–41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26653794" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26653794</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_bukharan_jewish.REF.zlotogora.2015">Zlotogora J. Mendelian Disorders Among Jews [Internet]. Israel: <em>Department of Community Genetics Public Health Services Ministry of Health - Israel</em>; 2015 [cited 2022 June 20]. Available from: <a href="https://www.health.gov.il/Subjects/Genetics/Documents/book_jews.pdf" ref="pagearea=cite-ref&targetsite=external&targetcat=link&targettype=uri">www<wbr style="display:inline-block"></wbr>.health.gov.il</a> (pdf)</div></li></ul></div><div id="founder_bukharan_jewish.Revision_History"><h2 id="_founder_bukharan_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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