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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 Faroe Islander Population" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2023/01/12" /><meta name="citation_author" content="Stephanie E Wallace" /><meta name="citation_author" content="Lora JH Bean" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK551090/" /><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 Faroe Islander 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.Contributor" content="Lora JH Bean" /><meta name="DC.Date" content="2023/01/12" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK551090/" /><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 Faroe Islander 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/NBK551090/" /><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_faroese/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK551090/" /><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="#__NBK551090_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK551090_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_druze/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/founder_finnish/" 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="_NBK551090_"><span class="title" itemprop="name">Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population</span></h1><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD and <span itemprop="author">Lora JH Bean</span>, PhD.</p><a data-jig="ncbitoggler" href="#__NBK551090_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK551090_ai__"><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, Pediatrics<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.wu@2rotide" class="oemail">ude.wu@2rotide</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Lora JH Bean</span>, PhD<div class="affiliation small">Molecular Genetics Editor, <i>GeneReviews</i></div><div class="affiliation small">Senior Director, Laboratory Quality Assurance<br />PerkinElmer Genomics, Inc<br />Pittsburgh, Pennsylvania</div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">December 19, 2019</span>; Last Revision: <span itemprop="dateModified">January 12, 2023</span>.</p><p><em>Estimated reading time: 3 minutes</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>A <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> is a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.</p><p>The table below includes common founder variants – here defined as <b>three or fewer variants that account for >50% of the pathogenic variants identified in a single <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> in individuals of a specific ancestry</b> – in individuals of Faroese 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. In addition, some variants included here have been exclusively reported in individuals of Faroese ancestry but have not been proven to be founder variants.</p><div id="founder_faroese.T.genetic_disorders_asso" class="table"><h3><span class="label">Table. </span></h3><div class="caption"><p>Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK551090/table/founder_faroese.T.genetic_disorders_asso/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__founder_faroese.T.genetic_disorders_asso_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_8" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ethnicity</th><th id="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AGL</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/gsd3/">Glycogen storage disease type III</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1222C>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg408Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_000642.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000642<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000633.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000633<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.santer.2001.388">Santer et al [2001]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATP8B1</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/pfic/">ATP8B1 deficiency</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1982T>C</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ile661Thr</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_005603.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005603<wbr style="display:inline-block"></wbr>.6</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005594.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005594<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.bull.1998.219">Bull et al [1998]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>BBS1</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/bbs/">Bardet-Biedl syndrome</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1110+3G>C<br /><p>(IVS11+3G>C)</p></td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">95%</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_024649.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_024649<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.hjortsh_j.2009.409">Hjortshøj et al [2009]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CDHR1</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cone-rod dystrophy 15 (OMIM <a href="https://omim.org/entry/613660" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613660</a>)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.524dupA</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn176GlufsTer48</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/53</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_033100.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_033100<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_149091.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_149091<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.ostergaard.2010.665">Ostergaard et al [2010]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CFTR</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cf/">Cystic fibrosis</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1521_1523delCTT</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Phe508del</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/24</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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>
|
||
<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>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.schwartz.1995.703">Schwartz et al [1995]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HLCS</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Holocarboxylase synthetase deficiency (OMIM <a href="https://omim.org/entry/253270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">253270</a>)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1519+5G>A<br /><p>(IVS8+5G>A)</p></td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/22</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_000411.8" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000411<wbr style="display:inline-block"></wbr>.8</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.lund.2007.341">Lund et al [2007]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>HYDIN</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/pcd/">Primary ciliary dyskinesia</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.922A>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys308Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_001270974.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001270974<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001257903.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001257903<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_faroese.REF.jeganathan.2004.233">Jeganathan et al [2004]</a>, <a class="bk_pop" href="#founder_faroese.REF.olbrich.2012.672">Olbrich et al [2012]</a></td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LRMDA</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Oculocutaneous albinism type VII (OMIM <a href="https://omim.org/entry/615179" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615179</a>)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.580C>T</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg194Ter</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/30</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_032024.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_032024<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_114413.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_114413<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.gr_nskov.2013.415">Grønskov et al [2013]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MERTK</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Retinitis pigmentosa 38 (See <a href="/books/n/gene/rp-overview/">Nonsyndromic RP Overview</a>.)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.-8162_1145-1212del91057<br />[91-kb del incl exons 1-7] <sup>1</sup></td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/31</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_006343.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_006343<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.ostergaard.2011.1485">Ostergaard et al [2011]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRSS56</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Isolated microphthalmia 6 (OMIM <a href="https://omim.org/entry/613517" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613517</a>)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.526C>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg176Gly</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12%</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_001195129.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001195129<wbr style="display:inline-block"></wbr>.2</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001182058.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001182058<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.gal.2011.382">Gal et al [2011]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.926G>C</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Trp309Ser</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">88%</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/31</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SLC22A5</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/cdsp/">Systemic primary carnitine deficiency</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.95A>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn32Ser</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/18</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_003060.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003060<wbr style="display:inline-block"></wbr>.4</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_003051.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_003051<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.lund.2007.341">Lund et al [2007]</a>
|
||
</td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SUCLA2</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sucla2-def/"><i>SUCLA2</i>-related mtDNA depletion syndrome</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.534+1G>A<br /><p>(IVS4+1G>A)</p></td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/33 to 1/50</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_003850.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_003850<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a class="bk_pop" href="#founder_faroese.REF.carrozzo.2007.862">Carrozzo et al [2007]</a>, <a class="bk_pop" href="#founder_faroese.REF.ostergaard.2007.853">Ostergaard et al [2007]</a></td></tr><tr><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TBCD</i>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Encephalopathy, progressive, early-onset, w/brain atrophy & thin corpus callosum (OMIM <a href="https://omim.org/entry/617193" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617193</a>)</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3099C>G</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Asn1033Lys</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_faroese.T.genetic_disorders_asso_1_1_1_7" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/38</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_8" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Faroese</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_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_005993.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005993<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_005984.3" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005984<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_h_founder_faroese.T.genetic_disorders_asso_1_1_1_10" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a class="bk_pop" href="#founder_faroese.REF.gr_nborg.2018.1512">Grønborg et al [2018]</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>; RP = retinitis pigmentosa</p></div></dd><dt>1. </dt><dd><div id="founder_faroese.TF.e.1"><p class="no_margin">Does not conform to standard HGVS nomenclature</p></div></dd><dt>2. </dt><dd><div id="founder_faroese.TF.e.2"><p class="no_margin">This 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_faroese.TF.e.3"><p class="no_margin">To date, additional pathogenic variants in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> have not been reported in individuals of Faroese descent.</p></div></dd></dl></div></div></div><div id="founder_faroese.References"><h2 id="_founder_faroese_References_">References</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.bull.1998.219">Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RHJ, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. <span><span class="ref-journal">Nat Genet. </span>1998;<span class="ref-vol">18</span>:219–24.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9500542" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9500542</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.carrozzo.2007.862">Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. <span><span class="ref-journal">Brain. </span>2007;<span class="ref-vol">130</span>:862–74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17301081" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17301081</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.gal.2011.382">Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. <span><span class="ref-journal">Am J Hum Genet. </span>2011;<span class="ref-vol">88</span>:382–90.</span> [<a href="/pmc/articles/PMC3059417/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3059417</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21397065" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21397065</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.gr_nborg.2018.1512">Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. <span><span class="ref-journal">Eur J Hum Genet. </span>2018;<span class="ref-vol">26</span>:1512–20.</span> [<a href="/pmc/articles/PMC6138752/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6138752</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29921875" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29921875</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.gr_nskov.2013.415">Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. <span><span class="ref-journal">Am J Hum Genet. </span>2013;<span class="ref-vol">92</span>:415–21.</span> [<a href="/pmc/articles/PMC3591853/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3591853</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23395477" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23395477</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.hjortsh_j.2009.409">Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. <span><span class="ref-journal">Br J Ophthalmol. </span>2009;<span class="ref-vol">93</span>:409–13.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18669544" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18669544</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.jeganathan.2004.233">Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EMK, Mitchison HM. Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. <span><span class="ref-journal">J Med Genet. </span>2004;<span class="ref-vol">41</span>:233–40.</span> [<a href="/pmc/articles/PMC1735711/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1735711</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/14985390" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14985390</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.lund.2007.341">Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. <span><span class="ref-journal">J Inherit Metab Dis. </span>2007;<span class="ref-vol">30</span>:341–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17417720" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17417720</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.olbrich.2012.672">Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. <span><span class="ref-journal">Am J Hum Genet. </span>2012;<span class="ref-vol">91</span>:672–84.</span> [<a href="/pmc/articles/PMC3484652/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3484652</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23022101" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23022101</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.ostergaard.2010.665">Ostergaard E, Batbayli M, Duno M, Vihelmsen K, Rosenberg T. Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. <span><span class="ref-journal">J Med Genet. </span>2010;<span class="ref-vol">47</span>:665–9.</span> [<a href="/pmc/articles/PMC2976051/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2976051</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20805371" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20805371</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.ostergaard.2011.1485">Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases. <span><span class="ref-journal">Mol Vis. </span>2011;<span class="ref-vol">17</span>:1485–92.</span> [<a href="/pmc/articles/PMC3110495/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3110495</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21677792" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21677792</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.ostergaard.2007.853">Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. <span><span class="ref-journal">Brain. </span>2007;<span class="ref-vol">130</span>:853–61.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17287286" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17287286</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.santer.2001.388">Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. <span><span class="ref-journal">Eur J Hum Genet. </span>2001;<span class="ref-vol">9</span>:388–91.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11378828" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11378828</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="founder_faroese.REF.schwartz.1995.703">Schwartz M, Sørensen N, Brandt NJ, Høgdall E, Holm T. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. <span><span class="ref-journal">Hum Genet. </span>1995;<span class="ref-vol">95</span>:703–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7789957" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7789957</span></a>]</div></li></ul></div><div id="founder_faroese.Revision_History"><h2 id="_founder_faroese_Revision_History_">Revision History</h2><ul><li class="half_rhythm"><div>12 January 2023 (sw) Revision: Reference sequences updated</div></li><li class="half_rhythm"><div>19 December 2019 (sw) Initial posting</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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