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<meta name="ncbi_db" content="books" /><meta name="ncbi_pdid" content="book-part" /><meta name="ncbi_acc" content="NBK540448" /><meta name="ncbi_domain" content="gene" /><meta name="ncbi_report" content="record" /><meta name="ncbi_type" content="fulltext" /><meta name="ncbi_objectid" content="" /><meta name="ncbi_pcid" content="/NBK540448/" /><meta name="ncbi_pagename" content="WDR26-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf" /><meta name="ncbi_bookparttype" content="chapter" /><meta name="ncbi_app" content="bookshelf" />
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="WDR26-Related Intellectual Disability" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2019/04/25" /><meta name="citation_author" content="Cara M Skraban" /><meta name="citation_author" content="Katheryn L Grand" /><meta name="citation_author" content="Matthew A Deardorff" /><meta name="citation_pmid" content="31021590" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK540448/" /><meta name="citation_keywords" content="WD repeat-containing protein 26" /><meta name="citation_keywords" content="WDR26" /><meta name="citation_keywords" content="WDR26-Related Intellectual Disability" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="WDR26-Related Intellectual Disability" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Cara M Skraban" /><meta name="DC.Contributor" content="Katheryn L Grand" /><meta name="DC.Contributor" content="Matthew A Deardorff" /><meta name="DC.Date" content="2019/04/25" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK540448/" /><meta name="description" content="WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation)." /><meta name="og:title" content="WDR26-Related Intellectual Disability" /><meta name="og:type" content="book" /><meta name="og:description" content="WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. 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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="#__NBK540448_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK540448_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/was/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/wdr62-pm/" 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="_NBK540448_"><span class="title" itemprop="name"><i>WDR26</i>-Related Intellectual Disability</span></h1><p class="contrib-group"><span itemprop="author">Cara M Skraban</span>, MD, <span itemprop="author">Katheryn L Grand</span>, MS, and <span itemprop="author">Matthew A Deardorff</span>, MD, PhD.</p><a data-jig="ncbitoggler" href="#__NBK540448_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK540448_ai__"><div class="contrib half_rhythm"><span itemprop="author">Cara M Skraban</span>, MD<div class="affiliation small">Children's Hospital of Philadelphia<br />Philadelphia, Pennsylvania<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.pohc.liame@cnabarks" class="oemail">ude.pohc.liame@cnabarks</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Katheryn L Grand</span>, MS<div class="affiliation small">Children's Hospital of Philadelphia<br />Philadelphia, Pennsylvania<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.pohc.liame@kdnarg" class="oemail">ude.pohc.liame@kdnarg</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Matthew A Deardorff</span>, MD, PhD<div class="affiliation small">Departments of Pathology and Pediatrics<br />Children's Hospital Los Angeles<br />Keck School of Medicine<br />University of Southern California<br />Los Angeles, California<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.csu.alhc@ffrodraedm" class="oemail">ude.csu.alhc@ffrodraedm</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">April 25, 2019</span>.</p><p><em>Estimated reading time: 18 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="wdr26-id.Summary" itemprop="description"><h2 id="_wdr26-id_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p><i>WDR26</i>-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <i>WDR26</i>-related ID is established in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with suggestive clinical features and a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>WDR26</i> identified by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Standard treatment of developmental delay / intellectual disability, seizures, infant feeding problems, and behavioral issues.</p><p><i>Surveillance:</i> In infancy: regular assessment of swallowing, feeding, and nutritional status to determine safety of oral vs gastrostomy feeding. For all age groups: routine monitoring of developmental progress, educational needs, and behavioral issues.</p></div><div><h4 class="inline">Genetic counseling.</h4><p><i>WDR26</i>-related ID is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner. All individuals reported to date have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. If the <i>WDR26</i> pathogenic variant found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is estimated to be 1% because of the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>. Prenatal testing for a pregnancy at increased risk and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p></div></div><div id="wdr26-id.Diagnosis"><h2 id="_wdr26-id_Diagnosis_">Diagnosis</h2><p>Formal diagnostic criteria for <i>WDR26</i>-related intellectual disability have not been established.</p><div id="wdr26-id.Suggestive_Findings"><h3>Suggestive Findings</h3><p><i>WDR26</i>-related intellectual disability <b>should be considered</b> in individuals with the following findings [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>]:</p><ul><li class="half_rhythm"><div>Developmental delay or intellectual disability of variable degree</div></li><li class="half_rhythm"><div>Characteristic facial features including coarse features, prominent eyes with large-appearing irises, prominent maxilla, broad nasal tip, protruding upper lip, prominent upper gingiva, and widely spaced teeth (<a class="figpopup" href="/books/NBK540448/figure/wdr26-id.F1/?report=objectonly" target="object" rid-figpopup="figwdr26idF1" rid-ob="figobwdr26idF1">Figure 1</a>)</div></li><li class="half_rhythm"><div>Central hypotonia</div></li><li class="half_rhythm"><div>Autistic features</div></li><li class="half_rhythm"><div>Seizures: both febrile and non-febrile</div></li><li class="half_rhythm"><div>Abnormal wide-based, ataxic, and/or stiff-legged gait</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col fig" id="figwdr26idF1" co-legend-rid="figlgndwdr26idF1"><a href="/books/NBK540448/figure/wdr26-id.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figwdr26idF1" rid-ob="figobwdr26idF1"><img class="small-thumb" src="/books/NBK540448/bin/wdr26-id-Image001.gif" src-large="/books/NBK540448/bin/wdr26-id-Image001.jpg" alt="Figure 1. . Four individuals with loss-of-function WDR26 variants." /></a><div class="icnblk_cntnt" id="figlgndwdr26idF1"><h4 id="wdr26-id.F1"><a href="/books/NBK540448/figure/wdr26-id.F1/?report=objectonly" target="object" rid-ob="figobwdr26idF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Four individuals with loss-of-function <i>WDR26</i> variants. Characteristic facial features include coarse appearance, prominent eyes, prominent maxilla, broad nasal tip, protruding upper lip, prominent upper gingiva, and widely spaced teeth. Images published <a href="/books/NBK540448/figure/wdr26-id.F1/?report=objectonly" target="object" rid-ob="figobwdr26idF1">(more...)</a></p></div></div></div><div id="wdr26-id.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <i>WDR26</i>-related ID <b>is established</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with suggestive clinical features and identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variant in <i>WDR26</i> by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> (see <a href="/books/NBK540448/table/wdr26-id.T.molecular_genetic_testing_use/?report=objectonly" target="object" rid-ob="figobwdr26idTmoleculargenetictestinguse">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "<a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bk_pop" href="#wdr26-id.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <i>WDR26</i> variant of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> does not establish or rule out the diagnosis.</p><p><b>Molecular genetic testing</b> in a child with developmental delay or an older individual with intellectual disability typically begins with <a class="def" href="/books/n/gene/glossary/def-item/chromosomal-microarray/">chromosomal microarray</a> analysis (CMA). If CMA is not diagnostic, the next step is typically either a <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a> or comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing (<a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a>). Note: Single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing (<a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> of <i>WDR26</i>, followed by gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>) is of unproven utility, and unless <i>WDR26</i>-related ID is strongly suspected, it is typically NOT recommended.</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Chromosomal microarray analysis (CMA</b>) using oligonucleotide or SNP arrays can identify <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> 1q42 microdeletions that can include <i>WDR26</i>, causing <i>WDR26</i>-related ID (see <a href="/books/NBK540448/table/wdr26-id.T.molecular_genetic_testing_use/?report=objectonly" target="object" rid-ob="figobwdr26idTmoleculargenetictestinguse">Table 1</a>).</div></li><li class="half_rhythm"><div class="half_rhythm"><b>An intellectual disability (ID) <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> that includes <i>WDR26</i> and other genes of interest (see <a href="#wdr26-id.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition in a person with a nondiagnostic CMA while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. (4) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests. For this disorder, a multigene panel that also includes deletion/duplication analysis is recommended (see <a href="/books/NBK540448/table/wdr26-id.T.molecular_genetic_testing_use/?report=objectonly" target="object" rid-ob="figobwdr26idTmoleculargenetictestinguse">Table 1</a>).</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing,</b> which does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved, is another option. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible. If <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> is not diagnostic, <b><a class="def" href="/books/n/gene/glossary/def-item/exome-array/">exome array</a></b> (when clinically available) may be considered to detect (multi)<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications that cannot be detected by <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>. Note: To date such variants have not been reported as a cause of <i>WDR26</i>-related ID.</div><div class="half_rhythm">For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</div></li></ul><div id="wdr26-id.T.molecular_genetic_testing_use" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>WDR26</i>-Related Intellectual Disability</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.T.molecular_genetic_testing_use/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.T.molecular_genetic_testing_use_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>WDR26</i>
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</td><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15/15 <sup>4</sup></td></tr><tr><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> <sup>5</sup></td><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown; see footnote 6.</td></tr><tr><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Chromosomal microarray <sup>7</sup></td><td headers="hd_h_wdr26-id.T.molecular_genetic_testing_use_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown; see footnote 8.</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="wdr26-id.TF.1.1"><p class="no_margin">See <a href="/books/n/gene/wdr26/#wdr26.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>2. </dt><dd><div id="wdr26-id.TF.1.2"><p class="no_margin">See <a href="#wdr26-id.Molecular_Genetics">Molecular Genetics</a> for information on allelic variants detected in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div></dd><dt>3. </dt><dd><div id="wdr26-id.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>4. </dt><dd><div id="wdr26-id.TF.1.4"><p class="no_margin">
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<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al [2017]</a>
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</p></div></dd><dt>5. </dt><dd><div id="wdr26-id.TF.1.5"><p class="no_margin">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> detects intragenic deletions or duplications. Methods used may include a range of techniques such as <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a>, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted microarray designed to detect single-<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications.</p></div></dd><dt>6. </dt><dd><div id="wdr26-id.TF.1.6"><p class="no_margin">No data on detection rate of <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> are available.</p></div></dd><dt>7. </dt><dd><div id="wdr26-id.TF.1.7"><p class="no_margin">Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use include the 1q42region.</p></div></dd><dt>8. </dt><dd><div id="wdr26-id.TF.1.8"><p class="no_margin">To date, no individuals with <a class="def" href="/books/n/gene/glossary/def-item/isolated/">isolated</a> deletions of <i>WDR26</i> identified by CMA have been reported.</p></div></dd></dl></div></div></div></div></div><div id="wdr26-id.Clinical_Characteristics"><h2 id="_wdr26-id_Clinical_Characteristics_">Clinical Characteristics</h2><div id="wdr26-id.Clinical_Description"><h3>Clinical Description</h3><p><i>WDR26</i>-related intellectual disability is characterized by developmental delay / intellectual disability, epilepsy, and infant feeding difficulties. To date 15 individuals (10 female, 5 male) with intragenic pathogenic variants in <i>WDR26</i> have been reported; they range in age from 24 months to 34 years [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>].</p><p><b>Developmental delay (DD) and intellectual disability (ID)</b> are present in all individuals. Developmental delay ranges from mild in many to severe in approximately 30%. Sitting is delayed with an average of 11 months. Walking is delayed, with reported onset averaging 24 months but ranging from age 17 months to three years.</p><p>Speech development is a relative weakness. All individuals have delayed speech. Although some begin to develop speech in the second year, others remain nonverbal through childhood.</p><p><b>Seizures,</b> described in all affected individuals reported to date, range in onset from the newborn period to age seven years.</p><p>Seizure types are generally mild and include febrile and non-febrile (tonic-clonic, absence, rolandic). Most are self limited or respond well to standard treatments.</p><p>
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<b>Other neurodevelopmental features</b>
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</p><ul><li class="half_rhythm"><div>Hypotonia, present in nine of 12 reported individuals; typically mild</div></li><li class="half_rhythm"><div>Failure to thrive and infant feeding difficulties; reported in six of 15 individuals, with three requiring a gastrostomy tube at least temporarily</div></li><li class="half_rhythm"><div>An abnormal gait, described as wide-based, ataxic, and/or stiff-legged</div></li><li class="half_rhythm"><div>Structural brain anomalies, nearly all minor, noted in ten of 14 individuals; including the nonspecific findings (enlarged ventricles, thin corpus callosum, white matter volume loss, mild cerebellar hypoplasia, and pineal cyst) as well as a markedly abnormal left supratentorial hemisphere structure with pachygyria that required hemispherectomy (in 1 individual)</div></li><li class="half_rhythm"><div>Microcephaly; noted in three of 14 individuals</div></li></ul><p><b>Behavior.</b> Affected individuals are generally described as happy and socially engaging. Several have stereotypies / autistic features including repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation. Most prefer to engage with other children and adults rather than pursue solitary activities. While active, most children are directable and can concentrate on tasks and are not typically reported to be hyperactive.</p><p>
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<b>Other features</b>
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</p><ul><li class="half_rhythm"><div>
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<b>Ophthalmologic</b>
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</div><ul><li class="half_rhythm"><div>Strabismus and/or amblyopia (in 9/14)</div></li><li class="half_rhythm"><div>Congenital abducens paresis (in 1)</div></li><li class="half_rhythm"><div>Marcus Gunn jaw winking (in 1)</div></li><li class="half_rhythm"><div>Refractive errors, including myopia and hyperopia</div></li></ul></li><li class="half_rhythm"><div>
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<b>ENT</b>
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</div><ul><li class="half_rhythm"><div>Recurrent otitis media / eustachian tube dysfunction (5/15)</div></li><li class="half_rhythm"><div>Cleft palate (1)</div></li></ul></li><li class="half_rhythm"><div><b>Respiratory abnormalities.</b> Mild tracheomalacia (1)</div></li><li class="half_rhythm"><div><b>Gastrointestinal problems.</b> Constipation (4/12) and gastroesophageal reflux (3/13)</div></li><li class="half_rhythm"><div>
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<b>Musculoskeletal</b>
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</div><ul><li class="half_rhythm"><div>Mild contractures of the lower extremities (2)</div></li><li class="half_rhythm"><div><i>Pes cavus</i> (2)</div></li><li class="half_rhythm"><div>Forefoot varus (1)</div></li><li class="half_rhythm"><div>Hip dysplasia (1)</div></li><li class="half_rhythm"><div>Osteopathia striata of the distal femurs (1)</div></li></ul></li><li class="half_rhythm"><div>
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<b>Cardiac</b>
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||
</div><ul><li class="half_rhythm"><div>Ventricular septal defect (1)</div></li><li class="half_rhythm"><div>Right-sided aortic arch (1)</div></li></ul></li></ul></div><div id="wdr26-id.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>No <a class="def" href="/books/n/gene/glossary/def-item/genotype-phenotype-correlations/">genotype-phenotype correlations</a> have been established.</p></div><div id="wdr26-id.Nomenclature"><h3>Nomenclature</h3><p><i>WDR26</i>-related intellectual disability has also been referred to as Skraban-Deardorff syndrome.</p></div><div id="wdr26-id.Prevalence"><h3>Prevalence</h3><p><i>WDR26</i>-related intellectual disability is rare. Only 15 individuals with intragenic pathogenic <i>WDR26</i> variants have been reported to date. These 15 were identified among some 21,400 individuals with intellectual disability who had <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, giving an estimated frequency of 1:1,500 for individuals with unknown causes of intellectual disability [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>].</p></div></div><div id="wdr26-id.Genetically_Related_Allelic_Dis"><h2 id="_wdr26-id_Genetically_Related_Allelic_Dis_">Genetically Related (Allelic) Disorders</h2><p><b>Chromosome 1q41q42 deletions.</b> More than 20 individuals have been reported with deletions of the <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> 1q41q42 region ranging in size from 300 Kb to 10 Mb and including <i>WDR26</i> and varied subsets of other genes [<a class="bk_pop" href="#wdr26-id.REF.shaffer.2007.607">Shaffer et al 2007</a>]. Consistently, many individuals with 1q42 deletions demonstrate features that overlap those of individuals with intragenic pathogenic variants in <i>WDR26</i>, including facial dysmorphia, developmental delay, and a predisposition to seizures. Other clinical features seen in some individuals include cataracts, short stature, microcephaly, and multiple structural anomalies including nail hypoplasia, cleft palate, clubfoot, <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> heart disease, and congenital diaphragmatic hernia [<a class="bk_pop" href="#wdr26-id.REF.rice.2006.1637">Rice et al 2006</a>, <a class="bk_pop" href="#wdr26-id.REF.mazzeu.2007.1790">Mazzeu et al 2007</a>, <a class="bk_pop" href="#wdr26-id.REF.shaffer.2007.607">Shaffer et al 2007</a>, <a class="bk_pop" href="#wdr26-id.REF.slavotinek.2009.429">Slavotinek et al 2009</a>, <a class="bk_pop" href="#wdr26-id.REF.filges.2010.987">Filges et al 2010</a>, <a class="bk_pop" href="#wdr26-id.REF.kantarci.2010.2493">Kantarci et al 2010</a>, <a class="bk_pop" href="#wdr26-id.REF.rosenfeld.2011.42">Rosenfeld et al 2011</a>, <a class="bk_pop" href="#wdr26-id.REF.wat.2011.299">Wat et al 2011</a>, <a class="bk_pop" href="#wdr26-id.REF.au.2014.441">Au et al 2014</a>, <a class="bk_pop" href="#wdr26-id.REF.cassina.2015.1418">Cassina et al 2015</a>, <a class="bk_pop" href="#wdr26-id.REF.yanagishita.2019.452">Yanagishita et al 2019</a>].</p><p>Of relevance, <i>FBXO28</i>, which lies adjacent to <i>WDR26</i>, is often included in 1q41q42 chromosomal deletions. Recently, a <i>de novo FBXO28</i> <a class="def" href="/books/n/gene/glossary/def-item/frameshift-variant/">frameshift variant</a> was reported in an individual with developmental delay and seizures but absence of maxillary or gingival findings associated with mutation of <i>WDR26</i> [<a class="bk_pop" href="#wdr26-id.REF.balak.2018.1549">Balak et al 2018</a>]; this individual also had central sleep apnea and nail anomalies not noted associated with <i>WDR26</i>. These observations suggest that effects of <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> of both <i>WDR26</i> and <i>FBXO28</i> may influence the <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> of 1q41q42 chromosomal deletions.</p></div><div id="wdr26-id.Differential_Diagnosis"><h2 id="_wdr26-id_Differential_Diagnosis_">Differential Diagnosis</h2><p>Developmental delay with delayed speech and febrile and/or non-febrile seizures, the most frequent features of <i>WDR26</i>-related ID, are relatively common and have an extensive differential diagnosis.</p><p>The following syndromes with significant phenotypic overlap with <i>WDR26</i>-related ID have been considered in some affected individuals before the diagnosis of <i>WDR26</i>-related ID was established (<a href="/books/NBK540448/table/wdr26-id.T.disorders_with_developmental/?report=objectonly" target="object" rid-ob="figobwdr26idTdisorderswithdevelopmental">Table 2</a>).</p><div id="wdr26-id.T.disorders_with_developmental" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Disorders with Developmental Delay / Intellectual Disability to Consider in the Differential Diagnosis of <i>WDR26</i>-Related Intellectual Disability</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.T.disorders_with_developmental/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.T.disorders_with_developmental_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" style="text-align:left;vertical-align:middle;">Differential<br />Diagnosis<br />Disorder</th><th id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" style="text-align:left;vertical-align:middle;">Gene / Genetic<br />Mechanism</th><th id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Clinical Features of the Differential Diagnosis Disorder</th></tr><tr><th headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4" id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/<i>WDR26</i>-related ID</th><th headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4" id="hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from <i>WDR26</i>-related ID</th></tr></thead><tbody><tr><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/angelman/">Angelman syndrome</a>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Deficient<br />expression/<br />function of<br />maternally<br />inherited <i>UBE3A</i> <a class="def" href="/books/n/gene/glossary/def-item/allele/">allele</a></td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 1.</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Happy demeanor</div></li><li class="half_rhythm"><div>Seizures</div></li><li class="half_rhythm"><div>Abnormal gait</div></li><li class="half_rhythm"><div>Widely spaced teeth</div></li></ul>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Inappropriate laughter/excitability</div></li><li class="half_rhythm"><div>Microcephaly common</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/pitt-hopkins/">Pitt-Hopkins syndrome</a>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>TCF4</i> or<br /><a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> of the<br /><a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a><br />region in which<br /><i>TCF4</i> is located</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 2.</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Seizures</div></li><li class="half_rhythm"><div>Widely spaced teeth</div></li><li class="half_rhythm"><div>Full lips</div></li></ul>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Episodic hyperventilation &/or breath-holding spells</div></li><li class="half_rhythm"><div>Severe myopia</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/xlmr/">Alpha-thalassemia X-linked intellectual disability syndrome</a>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATRX</i>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Hypotonia</div></li><li class="half_rhythm"><div>Coarse facial features</div></li></ul>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Alpha-thalassemia & HbH inclusion bodies</div></li><li class="half_rhythm"><div>Genital anomalies</div></li><li class="half_rhythm"><div>Microcephaly common</div></li><li class="half_rhythm"><div>Postnatal growth deficiency</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/kleefstra/">Kleefstra syndrome</a>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>EHMT1</i> or<br /><a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> at<br />9q34.3</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Seizures</div></li><li class="half_rhythm"><div>Hypotonia</div></li><li class="half_rhythm"><div>Autistic features</div></li></ul>
|
||
</td><td headers="hd_h_wdr26-id.T.disorders_with_developmental_1_1_1_4 hd_h_wdr26-id.T.disorders_with_developmental_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Congenital malformations more common</div></li><li class="half_rhythm"><div>Severe infections</div></li></ul>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; ID = intellectual disability; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="wdr26-id.TF.2.1"><p class="no_margin">The risk to sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> depends on the genetic mechanism leading to the loss of <i>UBE3A</i> function: typically less than 1% risk for probands with a <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> or <a class="def" href="/books/n/gene/glossary/def-item/uniparental-disomy/">uniparental disomy</a>, and as high as 50% for probands with an <a class="def" href="/books/n/gene/glossary/def-item/imprinting/">imprinting</a> defect or a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> of <i>UBE3A</i>.</p></div></dd><dt>2. </dt><dd><div id="wdr26-id.TF.2.2"><p class="no_margin">Pitt-Hopkins syndrome is caused by <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> of <i>TCF4</i>. Most individuals reported to date have represented <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> cases (i.e., a single occurrence in a family) resulting from a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> or <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a>.</p></div></dd></dl></div></div></div></div><div id="wdr26-id.Management"><h2 id="_wdr26-id_Management_">Management</h2><div id="wdr26-id.Evaluations_Following_Initial_D"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with <i>WDR26</i>-related intellectual disability (ID), the evaluations summarized in <a href="/books/NBK540448/table/wdr26-id.T.recommended_evaluations_follo/?report=objectonly" target="object" rid-ob="figobwdr26idTrecommendedevaluationsfollo">Table 3</a> (if not performed as part of the evaluation that led to diagnosis) are recommended.</p><div id="wdr26-id.T.recommended_evaluations_follo" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with <i>WDR26-</i>Related ID</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.T.recommended_evaluations_follo/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.T.recommended_evaluations_follo_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">System/Concern</th><th id="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Evaluation</th><th id="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Constitutional</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of height, weight, head circumference</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation of growth parameters to identify those w/FTT</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Neurologic</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic evaluation</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incl EEG & brain MRI if seizures</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Development</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Incl assessment of age-appropriate motor, speech/language, cognitive skills.</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Eyes</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic evaluation</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For evidence of refractive error, strabismus ± amblyopia, cataracts, abnormal extraocular movement</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>ENT/Mouth</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/ENT</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/:
|
||
<ul><li class="half_rhythm"><div>Recurrent otitis media</div></li><li class="half_rhythm"><div>Cleft palate</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cardiovascular</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/cardiologist</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">If evidence of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> heart defect</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Respiratory</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/pulmonologist</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">If evidence of tracheomalacia</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Gastrointestinal/</b>
|
||
<br />
|
||
<b>Feeding</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastroenterology / nutrition / feeding team evaluation</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/:
|
||
<ul><li class="half_rhythm"><div>Feeding difficulties, GERD, &/or FTT: assess swallowing, feeding, & nutritional status to determine safety of oral vs gastrostomy feeding</div></li><li class="half_rhythm"><div>Constipation</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/physiatrist</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/gait abnormalities</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Psychiatric/</b>
|
||
<br />
|
||
<b>Behavioral</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuropsychiatric evaluation</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Screen individuals age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Miscellaneous/</b>
|
||
<br />
|
||
<b>Other</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consultation w/clinical geneticist &/or genetic counselor</td><td headers="hd_h_wdr26-id.T.recommended_evaluations_follo_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; ENT = ear, nose, and throat; FTT = failure to thrive; GERD = gastroesophageal reflux disease</p></div></dd></dl></div></div></div></div><div id="wdr26-id.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><div id="wdr26-id.T.treatment_of_manifestations_i" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Treatment of Manifestations in Individuals with <i>WDR26</i>-Related Intellectual Disability</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.T.treatment_of_manifestations_i/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.T.treatment_of_manifestations_i_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Manifestation/<br />Concern</th><th id="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Treatment</th><th id="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Feeding</b>
|
||
<br />
|
||
<b>difficulties</b>
|
||
<br />
|
||
<b>&/or FTT</b>
|
||
</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard care w/gastroenterologist & nutritionist &/or speech therapist</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gastrostomy tube placement may be required for persistent feeding issues.</td></tr><tr><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Strabismus/</b>
|
||
<br />
|
||
<b>Amblyopia</b>
|
||
</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard care as per treating ophthalmologist</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cardiac defects</b>
|
||
</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard care as per treating cardiologist</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Seizures</b>
|
||
</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard ASMs as recommended by an experienced neurologist. Consideration of brain MRI.</td><td headers="hd_h_wdr26-id.T.treatment_of_manifestations_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. <sup>1</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ASMs= anti-seizure medications; FTT = failure to thrive</p></div></dd><dt>1. </dt><dd><div id="wdr26-id.TF.4.1"><p class="no_margin">Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see <a href="https://www.epilepsy.com/tools-resources/forms-resources#Epilepsy-Foundation-Toolbox" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epilepsy Foundation Toolbox</a>.</p></div></dd></dl></div></div></div><div id="wdr26-id.Developmental_Delay__Intellectu"><h4>Developmental Delay / Intellectual Disability Management Issues</h4><p>The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.</p><p><b>Ages 0-3 years.</b> Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states and provides in-home services to target individual therapy needs.</p><p><b>Ages 3-5 years.</b> In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center-based; however, for children too medically unstable to attend, home-based services are provided.</p><p><b>All ages.</b> Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. Some issues to consider:</p><ul><li class="half_rhythm"><div>IEP services:</div><ul><li class="half_rhythm"><div>An IEP provides specially designed instruction and related services to children who qualify</div></li><li class="half_rhythm"><div>IEP services will be reviewed annually to determine if any changes are needed.</div></li><li class="half_rhythm"><div>Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.</div></li><li class="half_rhythm"><div>Vision and hearing consultants should be a part of the child's IEP team to support access to academic material.</div></li><li class="half_rhythm"><div>PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.</div></li><li class="half_rhythm"><div>As a child enters teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.</div></li></ul></li><li class="half_rhythm"><div>A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.</div></li><li class="half_rhythm"><div>In the US:</div><ul><li class="half_rhythm"><div>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.</div></li><li class="half_rhythm"><div>Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.</div></li></ul></li></ul></div><div id="wdr26-id.Motor_Dysfunction"><h4>Motor Dysfunction</h4><p>
|
||
<b>Gross motor dysfunction</b>
|
||
</p><ul><li class="half_rhythm"><div>Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).</div></li><li class="half_rhythm"><div>Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).</div></li></ul><p><b>Fine motor dysfunction.</b> Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.</p><p><b>Oral motor dysfunction.</b> Assuming that the individual is safe to eat by mouth, feeding therapy – typically from an occupational or speech therapist – is recommended for affected individuals who have difficulty feeding as a result of poor oral motor control.</p><p><b>Communication issues.</b> Consider evaluation for alternative means of communication (e.g., <a href="https://www.asha.org/NJC/AAC/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">augmentative and alternative communication</a> [AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development.</p></div><div id="wdr26-id.SocialBehavioral_Difficulties"><h4>Social/Behavioral Difficulties</h4><p>Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst.</p><p>Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder (ADHD), when necessary.</p><p>Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.</p></div></div><div id="wdr26-id.Surveillance"><h3>Surveillance</h3><div id="wdr26-id.T.recommended_surveillance_for" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with <i>WDR26</i>-Related Intellectual Disability</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.T.recommended_surveillance_for/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.T.recommended_surveillance_for_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Constitutional</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval of growth</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually or more frequently if FTT</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Eyes</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmologic eval</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually or more frequently as needed</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>ENT/Mouth</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ENT eval</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_3" rowspan="6" colspan="1" style="text-align:left;vertical-align:middle;">As needed</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Gastrointestinal/</b>
|
||
<br />
|
||
<b>Feeding</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment for constipation, gastroesophageal reflux, nutritional status, & feeding w/attention to poor weight gain, choking/gagging during feeds, & feeding refusal not otherwise explained</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical therapy follow up for gait abnormality</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Neurologic</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Follow up of seizure management</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Development</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor developmental progress & educational needs.</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Psychiatric/</b>
|
||
<br />
|
||
<b>Behavorial</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental psychologist eval</td></tr><tr><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Miscellaneous/</b>
|
||
<br />
|
||
<b>Other</b>
|
||
</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess family need for social work support, other local resources.</td><td headers="hd_h_wdr26-id.T.recommended_surveillance_for_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">FTT = failure to thrive</p></div></dd></dl></div></div></div></div><div id="wdr26-id.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#wdr26-id.Related_Genetic_Counseling_Issu">Genetic Counseling</a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="wdr26-id.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="wdr26-id.Genetic_Counseling"><h2 id="_wdr26-id_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="wdr26-id.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p><i>WDR26</i>-related intellectual disability (ID) is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner and is typically caused by a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p></div><div id="wdr26-id.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>All probands reported to date with <i>WDR26</i>-related ID whose parents have undergone <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> have the disorder as a result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a>
|
||
<i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>If the <i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, the pathogenic variant most likely occurred <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> in the proband. Another possible explanation is that the proband inherited a pathogenic variant from a parent with <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>. Although theoretically possible, no instances of germline mosaicism have been reported to date.</div></li><li class="half_rhythm"><div>Theoretically, if the parent is the individual in whom the <i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> first occurred, the parent may have <a class="def" href="/books/n/gene/glossary/def-item/somatic-mosaicism/">somatic mosaicism</a> for the variant and may be mildly/minimally affected.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the genetic status of the proband's parents: if the <i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the proband cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is estimated to be 1% because of the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> [<a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=Rahbari%20R%5BAuthor%5D&cauthor=true&cauthor_uid=26656846" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Rahbari</a> et al 2016].</p><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Individuals with <i>WDR26</i>-related ID have not been known to reproduce; however, many are still children.</p><p><b>Other family members.</b> Given that all probands with <i>WDR26</i>-related ID reported to date have the disorder as a result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a>
|
||
<i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the risk to other family members is presumed to be low.</p></div><div id="wdr26-id.Related_Genetic_Counseling_Issu"><h3>Related Genetic Counseling Issues</h3><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to parents of affected individuals.</div></li></ul></div><div id="wdr26-id.Prenatal_Testing_and_Preimplant"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Risk to future pregnancies is presumed to be low as the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> most likely has a <i>de novo WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. There is, however, a <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> (~1%) to sibs based on the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> [<a class="bk_pop" href="#wdr26-id.REF.rahbari.2016.126">Rahbari et al 2016</a>]. Given this risk, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> may be considered.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="wdr26-id.Resources"><h2 id="_wdr26-id_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>American Association on Intellectual and Developmental Disabilities (AAIDD)</b>
|
||
</div><div><b>Phone:</b> 202-387-1968</div><div>
|
||
<a href="https://www.aaidd.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">aaidd.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>CDC - Child Development</b>
|
||
</div><div><b>Phone:</b> 800-232-4636</div><div>
|
||
<a href="https://www.cdc.gov/child-development/about/developmental-disability-basics.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Developmental Disability Basics</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>MedlinePlus</b>
|
||
</div><div>
|
||
<a href="http://www.nlm.nih.gov/medlineplus/ency/article/001523.htm" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Intellectual Disability</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>VOR: Speaking out for people with intellectual and developmental disabilities</b>
|
||
</div><div><b>Phone:</b> 877-399-4867</div><div><b>Email:</b> info@vor.net</div><div>
|
||
<a href="http://www.vor.net/index.php" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">vor.net</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>The WDR26 Registry at the Children’s Hospital of Philadelphia</b>
|
||
</div><div><b>Email:</b> WDR26@email.chop.edu</div></li></ul>
|
||
</div><div id="wdr26-id.Molecular_Genetics"><h2 id="_wdr26-id_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div id="wdr26-id.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>WDR26-Related Intellectual Disability: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_wdr26-id.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_wdr26-id.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_wdr26-id.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_wdr26-id.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_wdr26-id.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_wdr26-id.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/80232" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>WDR26</i>
|
||
</a>
|
||
</td><td headers="hd_b_wdr26-id.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=80232" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">1q42<wbr style="display:inline-block"></wbr>.11-q42.12</a>
|
||
</td><td headers="hd_b_wdr26-id.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q9H7D7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">WD repeat-containing protein 26</a>
|
||
</td><td headers="hd_b_wdr26-id.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=WDR26" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">WDR26</a>
|
||
</td><td headers="hd_b_wdr26-id.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=WDR26[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">WDR26</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="wdr26-id.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="wdr26-id.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for WDR26-Related Intellectual Disability (<a href="/omim/617424,617616" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540448/table/wdr26-id.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__wdr26-id.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/617424" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">617424</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">WD REPEAT-CONTAINING PROTEIN 26; WDR26</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/617616" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">617616</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SKRABAN-DEARDORFF SYNDROME; SKDEAS</td></tr></tbody></table></div></div><div id="wdr26-id.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>WDR26</i>-related intellectual disability (ID) results from <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> of WDR26 function [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>]. However, little is known regarding how haploinsufficiency leads to specific cellular or developmental pathobiology that results in the human <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>.</p><p><b>Gene structure.</b> The <i>WDR26</i> transcript <a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_025160.6" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_025160.6</a> has 14 exons, all of which contain coding sequence.</p><p>See <a href="/books/n/gene/wdr26/#wdr26.molgen.TA">Table A</a>, <b>Gene</b> for a detailed summary of <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> and protein information.</p><p><b>Pathogenic variants.</b> The majority of <i>WDR26</i> pathogenic variants have been <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> frameshift or <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a> variants. However, several <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> variants have been noted in exons 4 and 5. All reported pathogenic variants to date are <a class="def" href="/books/n/gene/glossary/def-item/private/">private</a> to individual families.</p><p>The observation that core features of the 1q41q42 <a class="def" href="/books/n/gene/glossary/def-item/deletion-syndrome/">deletion syndrome</a> consistently overlap those of <i>WDR26</i>-related ID strongly supports <i>WDR26</i> <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> as the basis of this deletion syndrome.</p><p><b>Normal <a class="def" href="/books/n/gene/glossary/def-item/gene-product/">gene product</a>.</b> The WDR26 protein includes 661 amino acids, and modeling suggests that it contains 14 variably perfect WD40 repeats. Together the 14 WD40 repeats compose two seven-bladed β propeller structures [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>]:</p><ul><li class="half_rhythm"><div>Domains WD1-WD7 (amino acids 1-353) comprise an N-terminal β propeller.</div></li><li class="half_rhythm"><div>Domains WD8-WD14 (amino acids 354-645) comprise a C-terminal β propeller, which includes the conserved LisH (LIS1 homology) and CTLH (C-terminal LIS homology) domains.</div></li></ul><p>Although specific cellular functions for WDR26 are unclear, many WD40 repeat proteins play key roles in cellular scaffolding [<a class="bk_pop" href="#wdr26-id.REF.zhu.2004.579">Zhu et al 2004</a>, <a class="bk_pop" href="#wdr26-id.REF.stirnimann.2010.565">Stirnimann et al 2010</a>, <a class="bk_pop" href="#wdr26-id.REF.sun.2013.16715">Sun et al 2013</a>].</p><p><b>Abnormal <a class="def" href="/books/n/gene/glossary/def-item/gene-product/">gene product</a>.</b> Most pathogenic <i>WDR26</i> variants result in <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> caused by either <a class="def" href="/books/n/gene/glossary/def-item/loss-of-function/">loss-of-function</a> variants or <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> of part or all of the gene. However, several <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> pathogenic variants have been identified in the CTLH (aa 156-231) and WD6 (aa 254-304) domains that disrupt WDR26 protein [<a class="bk_pop" href="#wdr26-id.REF.skraban.2017.139">Skraban et al 2017</a>].</p></div></div><div id="wdr26-id.Chapter_Notes"><h2 id="_wdr26-id_Chapter_Notes_">Chapter Notes</h2><div id="wdr26-id.Author_Notes"><h3>Author Notes</h3><p>Dr Skraban is a member of the faculty at the University of Pennsylvania Perelman School of Medicine and the Children's Hospital of Philadelphia. Dr Deardorff is a member of the faculty at the University of Southern California Keck School of Medicine and the Children's Hospital Los Angeles. They are working to further understand the clinical features and molecular pathogenesis associated with <i>WDR26</i>-related disorders with a goal to improve the lives of patients. They welcome both clinical and scientific inquiries, as well as individuals interested in their ongoing research registry (wdr26@email.chop.edu).</p></div><div id="wdr26-id.Acknowledgments"><h3>Acknowledgments</h3><p>We would like to thank the families who have agreed to participate, as well as the many clinical colleagues who have referred patients and collaborated in these efforts.</p></div><div id="wdr26-id.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>25 April 2019 (bp) Review posted live</div></li><li class="half_rhythm"><div>10 May 2018 (cs) Original submission</div></li></ul></div></div><div id="wdr26-id.References"><h2 id="_wdr26-id_References_">References</h2><div id="wdr26-id.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.au.2014.441">Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. <span><span class="ref-journal">Am J Med Genet A. </span>2014;<span class="ref-vol">164A</span>:441–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24357076" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24357076</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.balak.2018.1549">Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, Lafleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: a second gene that may contribute to the 1q41-q42 deletion phenotype. <span><span class="ref-journal">Am J Med Genet A. </span>2018;<span class="ref-vol">176</span>:1549–58.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30160831" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30160831</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.cassina.2015.1418">Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M. FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome. <span><span class="ref-journal">Am J Med Genet A. </span>2015;<span class="ref-vol">167</span>:1418–20.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25900767" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25900767</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.filges.2010.987">Filges I, Rothlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. <span><span class="ref-journal">Am J Med Genet. </span>2010;<span class="ref-vol">152A</span>:987–93.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20358614" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20358614</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.kantarci.2010.2493">Kantarci S, Ackerman KG, Russell MN, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Vanmarcke RP, Anyane-Yeboa K, Dickerman P, Wilson J, Donahoe PK, Pober BR. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. <span><span class="ref-journal">Am J Med Genet. </span>2010;<span class="ref-vol">152A</span>:2493–504.</span> [<a href="/pmc/articles/PMC3797530/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3797530</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20799323" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20799323</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.mazzeu.2007.1790">Mazzeu JF, Krepischi-Santos AC, Rosenbery C, Szuhai K, Knijnenburg J, Weiss JMM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello RCM, Otto PA, Vianna-Morgante AM. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. <span><span class="ref-journal">Am J Med Genet. </span>2007;<span class="ref-vol">143A</span>:1790–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17603805" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17603805</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.rahbari.2016.126">Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. <span><span class="ref-journal">Nat Genet. </span>2016;<span class="ref-vol">48</span>:126–33.</span> [<a href="/pmc/articles/PMC4731925/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4731925</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26656846" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26656846</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.rice.2006.1637">Rice GM, Qi Z, Selzer R, Richmond T, Thompson K, Pauli RM, Yu J. Microdissection-based high resolution genomic array analysis of two patients with cytogenetically identical interstitial deletion of chromosome 1q but distinct clinical phenotypes. <span><span class="ref-journal">Am J Med Genet. </span>2006;<span class="ref-vol">140</span>:1637–43.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16835927" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16835927</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.rosenfeld.2011.42">Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Hueur C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. <span><span class="ref-journal">Eur J Med Genet. </span>2011;<span class="ref-vol">54</span>:42–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20951845" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20951845</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.shaffer.2007.607">Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, Mcdonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. <span><span class="ref-journal">Genet Med. </span>2007;<span class="ref-vol">9</span>:607–16.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17873649" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17873649</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.skraban.2017.139">Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA, et al. WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features. <span><span class="ref-journal">Am J Hum Genet. </span>2017;<span class="ref-vol">101</span>:139–48.</span> [<a href="/pmc/articles/PMC5501873/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5501873</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28686853" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28686853</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.slavotinek.2009.429">Slavotinek AM, Moshrefi A, Lopenjimenez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. <span><span class="ref-journal">Clin Genet. </span>2009;<span class="ref-vol">75</span>:429–39.</span> [<a href="/pmc/articles/PMC2874832/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2874832</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19459883" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19459883</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.stirnimann.2010.565">Stirnimann CU, Petsalaki E, Russell RB, Muller CW. WD40 proteins propel cellular networks. <span><span class="ref-journal">Trends Biochem Sci. </span>2010;<span class="ref-vol">35</span>:565–74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20451393" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20451393</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.sun.2013.16715">Sun Z, Smrcka AV, Chen S. WDR26 functions as a scaffolding protein to promote Gbetagamma-mediated phospholipase C beta2 (PLCbeta2) activation in leukocytes. <span><span class="ref-journal">J Biol Chem. </span>2013;<span class="ref-vol">288</span>:16715–25.</span> [<a href="/pmc/articles/PMC3675605/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3675605</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23625927" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23625927</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.wat.2011.299">Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat J, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, De Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. <span><span class="ref-journal">J Med Genet. </span>2011;<span class="ref-vol">48</span>:299–307.</span> [<a href="/pmc/articles/PMC3227222/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3227222</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21525063" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21525063</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.yanagishita.2019.452">Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T. Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: the first case from Japan. <span><span class="ref-journal">Brain Dev. </span>2019;<span class="ref-vol">41</span>:452–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30635136" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30635136</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="wdr26-id.REF.zhu.2004.579">Zhu Y, Wang Y, Xia C, Li D, Li Y, Zeng W, Yuan W, Liu H, Zhu C, Wu X, Liu M. WDR26: a novel Gbeta-like protein, suppresses MAPK signaling pathway. <span><span class="ref-journal">J Cell Biochem. </span>2004;<span class="ref-vol">93</span>:579–87.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15378603" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15378603</span></a>]</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK540448/?report=reader">PubReader</a></li><li><a href="/books/NBK540448/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK540448" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK540448" style="display:none" title="Cite this Page"><div class="bk_tt">Skraban CM, Grand KL, Deardorff MA. WDR26-Related Intellectual Disability. 2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. 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xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Phelan-McDermid Syndrome-SHANK3 Related.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Phelan-McDermid Syndrome-SHANK3 Related.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Phelan K, Rogers RC, Boccuto L. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/37200470" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" 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class="invert">Review</span> CASK Disorders.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> CASK Disorders.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Moog U, Kutsche K. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/29023086" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SATB2-Associated Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> SATB2-Associated Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Zarate YA, Bosanko K, Fish J. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/27683934" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> DEPDC5-Related Epilepsy.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> DEPDC5-Related Epilepsy.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Baulac S, Baldassari S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=31021590" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=31021590" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a 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href="/portal/utils/pageresolver.fcgi?recordid=67da045367c23b31e0a93b1e">WAC WW domain containing adaptor with coiled-coil [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">WAC WW domain containing adaptor with coiled-coil [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:51322</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67da04502f30673f7bf51514">VWF von Willebrand factor [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">VWF von Willebrand factor [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:7450</div></div><div class="tertiary">Gene</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" 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