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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>TBC1D24-Related Disorders - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
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<meta name="citation_title" content="TBC1D24-Related Disorders">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2024/10/24">
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<meta name="citation_author" content="Simona Balestrini">
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<meta name="citation_author" content="Philippe M Campeau">
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<meta name="citation_author" content="Davide Mei">
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<meta name="citation_author" content="Renzo Guerrini">
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<meta name="citation_author" content="Sanjay Sisodiya">
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<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK274566/">
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<meta name="citation_keywords" content="DOORS Syndrome (Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures)">
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<meta name="citation_keywords" content="TBC1D24-Related Familial Infantile Myoclonic Epilepsy (FIME)">
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<meta name="citation_keywords" content="TBC1D24-Related Progressive Myoclonus Epilepsy (PME)">
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<meta name="citation_keywords" content="TBC1D24-Related Developmental and Epileptic Encephalopathy (DEE)">
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<meta name="citation_keywords" content="TBC1D24-Related Autosomal Dominant Nonsyndromic Hearing Loss (DFNA)">
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<meta name="citation_keywords" content="TBC1D24-Related Autosomal Recessive Nonsyndromic Hearing Loss (DFNB)">
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<meta name="citation_keywords" content="TBC1D24-Related Epilepsy of Infancy with Migrating Focal Seizures">
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<meta name="citation_keywords" content="TBC1D24-Related Rolandic Epilepsy with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)">
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<meta name="citation_keywords" content="TBC1 domain family member 24">
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<meta name="citation_keywords" content="TBC1D24">
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<meta name="citation_keywords" content="TBC1D24-Related Disorders">
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<meta name="DC.Title" content="TBC1D24-Related Disorders">
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<meta name="DC.Publisher" content="University of Washington, Seattle">
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<meta name="DC.Contributor" content="Simona Balestrini">
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<meta name="DC.Contributor" content="Philippe M Campeau">
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<meta name="DC.Contributor" content="Davide Mei">
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<meta name="DC.Contributor" content="Renzo Guerrini">
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<meta name="DC.Contributor" content="Sanjay Sisodiya">
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<meta name="DC.Date" content="2024/10/24">
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<meta name="description" content="TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).">
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<meta name="og:description" content="TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).">
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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK274566_"><span class="title" itemprop="name"><i>TBC1D24</i>-Related Disorders</span></h1><p class="contribs">Balestrini S, Campeau PM, Mei D, et al.</p><p class="fm-aai"><a href="#_NBK274566_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 46 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="tbc1d24-dis.Summary" itemprop="description"><h2 id="_tbc1d24-dis_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p><i>TBC1D24</i>-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (<i>d</i>eafness, <i>o</i>nychodystrophy, <i>o</i>steodystrophy, mental <i>r</i>etardation, and <i>s</i>eizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of a <i>TBC1D24</i>-related disorder is established in an individual with suggestive findings biallelic <i>TBC1D24</i> pathogenic variants when the mode of inheritance is autosomal recessive (i.e., DOORS syndrome, FIME, PME, EPRPDC, DEE, and DFNB), and in an individual with suggestive findings and a heterozygous <i>TBC1D24</i> pathogenic variant when the mode of inheritance is autosomal dominant (DFNA).</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Hearing aids or cochlear implants as needed for hearing loss; early educational intervention and physical, occupational, and speech therapy for developmental delay; symptomatic pharmacologic management for seizures; standard treatment for tremors, dystonic attacks, or other neurologic manifestations; routine management of visual impairment and renal, cardiac, dental, orthopedic, and endocrine issues.</p><p><i>Surveillance:</i> Neurologic evaluations with EEGs depending on seizure frequency and/or progression; annual audiologic evaluations to assess for possible progression of hearing loss and/or the efficacy of hearing aids; annual dental evaluations; annual endocrine evaluations.</p><p><i>Agents/circumstances to avoid:</i> Excessive ambient noise, which may exacerbate hearing loss in individuals with a heterozygous <i>TBC1D24</i> pathogenic variant that causes autosomal dominant hearing loss (DFNA).</p><p><i>Evaluation of relatives at risk:</i> Molecular genetic testing for the familial <i>TBC1D24</i> pathogenic variant(s) in older and younger sibs of a proband is appropriate in order to identify as early as possible those who would benefit from early treatment of seizures and/or hearing loss.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>Most <i>TBC1D24</i>-related disorders are inherited in an autosomal recessive manner (DOORS syndrome, FIME, PME, EPRPDC, and DEE [including EIMFS]). <i>TBC1D24</i>-related nonsyndromic hearing loss can be inherited in an autosomal recessive (DFNB) or autosomal dominant (DFNA) manner.</p><p><i>Autosomal recessive inheritance:</i> If both parents are known to be heterozygous for a <i>TBC1D24</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the familial <i>TBC1D24</i> pathogenic variants. Heterozygotes (carriers) are typically asymptomatic. Carrier testing for at-risk relatives requires prior identification of the <i>TBC1D24</i> pathogenic variants in the family.</p><p>Once the <i>TBC1D24</i> pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p></div></div><div id="tbc1d24-dis.GeneReview_Scope"><h2 id="_tbc1d24-dis_GeneReview_Scope_"><i>GeneReview</i> Scope</h2><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24relateddisordersi"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_i/?report=objectonly" target="object" title="Table" class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24relateddisordersi"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24related_disorders_i"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_i/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersi">Table</a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i>-Related Disorders: Included Phenotypes <sup>1</sup> </p></div></div></div><div id="tbc1d24-dis.Diagnosis"><h2 id="_tbc1d24-dis_Diagnosis_">Diagnosis</h2><p><i>TBC1D24</i>-related disorders comprise a continuum of distinct phenotypes:</p><ul><li class="half_rhythm"><div>DOORS syndrome (<i>d</i>eafness, <i>o</i>nychodystrophy, <i>o</i>steodystrophy, mental <i>r</i>etardation, and <i>s</i>eizures)</div></li><li class="half_rhythm"><div>Familial infantile myoclonic epilepsy (FIME)</div></li><li class="half_rhythm"><div>Progressive myoclonic epilepsy (PME)</div></li><li class="half_rhythm"><div>Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC)</div></li><li class="half_rhythm"><div>Developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS)</div></li><li class="half_rhythm"><div>Autosomal recessive nonsyndromic hearing loss (DFNB)</div></li><li class="half_rhythm"><div>Autosomal dominant nonsyndromic hearing loss (DFNA)</div></li></ul><div id="tbc1d24-dis.Suggestive_Findings"><h3>Suggestive Findings</h3><p>A <i>TBC1D24</i>-related disorder <b>should be suspected</b> in individuals with the following clinical features, which have been reported in several phenotypes that comprise a phenotypic continuum (information on additional features is provided in <a href="#tbc1d24-dis.Clinical_Characteristics">Clinical Characteristics</a>).</p><ul><li class="half_rhythm"><div>Deafness, including profound sensorineural hearing loss</div></li><li class="half_rhythm"><div>Seizures</div><ul><li class="half_rhythm"><div>Variable in severity; can be mild to severe, including early-onset and intractable epilepsy</div></li><li class="half_rhythm"><div>Different seizure types including myoclonic, generalized tonic-clonic, focal including hemifacial, with or without autonomic changes</div></li><li class="half_rhythm"><div>Variable EEG findings including centrotemporal sharp waves and spikes</div></li></ul></li><li class="half_rhythm"><div>Other neurologic features including:</div><ul><li class="half_rhythm"><div>Ataxia</div></li><li class="half_rhythm"><div>Exercise-induced dystonia</div></li><li class="half_rhythm"><div>Writer's cramp, difficulties with fine motor skills</div></li></ul></li><li class="half_rhythm"><div>Neurodevelopmental features, including intellectual disability / developmental delays; can vary in severity from mild to severe delays with progressive neurologic decline</div></li><li class="half_rhythm"><div>Nail and digital features including:</div><ul><li class="half_rhythm"><div>Onychodystrophy (short/absent nails)</div></li><li class="half_rhythm"><div>Osteodystrophy (short phalanges)</div></li></ul></li></ul></div><div id="tbc1d24-dis.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of a <i>TBC1D24</i>-related disorder <b>is established</b> in a proband with suggestive findings and <b>one of the following</b> identified by molecular genetic testing (see <a href="/books/NBK274566/table/tbc1d24-dis.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobtbc1d24disTmoleculargenetictesting">Table 1</a>):</p><ul><li class="half_rhythm"><div>Biallelic <i>TBC1D24</i> pathogenic variants when the mode of inheritance is autosomal recessive (i.e., DOORS syndrome, FIME, EIFMS, PME, EPRPDC, DEE, and DFNB)</div></li><li class="half_rhythm"><div>A heterozygous <i>TBC1D24</i> pathogenic variant when the mode of inheritance is autosomal dominant (DFNA)</div></li></ul><p>Notes: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [<a class="bibr" href="#tbc1d24-dis.REF.richards.2015.405" rid="tbc1d24-dis.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this <i>GeneReview</i> is understood to include likely pathogenic variants. (2) The identification of variant(s) of uncertain significance cannot be used to confirm or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single-gene testing, multigene panel) and <b>comprehensive</b>
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<b>genomic testing</b> (exome sequencing, genome sequencing) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in <a href="#tbc1d24-dis.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#tbc1d24-dis.Option_1">Option 1</a>), whereas those in whom the diagnosis of a <i>TBC1D24</i>-related disorder has not been considered are more likely to be diagnosed using genomic testing (see <a href="#tbc1d24-dis.Option_2">Option 2</a>).</p><div id="tbc1d24-dis.Option_1"><h4>Option 1</h4><p><b>Single-gene testing.</b> Sequence analysis of <i>TBC1D24</i> is performed first to detect missense, nonsense, and splice site variants as well as small intragenic deletions/insertions. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.</p><p>Note: (1) The molecular diagnostic yield appears to be highest in individuals who have all five typical features of DOORS syndrome [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>]. (2) The proportion of epilepsy caused by pathogenic variants in <i>TBC1D24</i> is unknown but appears to be small [<a class="bibr" href="#tbc1d24-dis.REF.symonds.2019.2303" rid="tbc1d24-dis.REF.symonds.2019.2303">Symonds et al 2019</a>].</p><p><b>A multigene panel</b> that includes <i>TBC1D24</i> and other genes of interest (see <a href="#tbc1d24-dis.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene 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 exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</p><p><b>Chromosomal microarray analysis (CMA)</b> uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including <i>TBC1D24</i>) that cannot be detected by sequence analysis. Some laboratories use low-pass whole-genome sequencing (LP-WGS) instead of CMA for genome-wide CNV detection.</p><p>For an introduction to CMA click <a href="/books/n/gene/app5/?report=reader#app5.Chromosomal_Microarray">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Chromosomal_Microarray_CMA">here</a>.</p></div><div id="tbc1d24-dis.Option_2"><h4>Option 2</h4><p>When the diagnosis of a <i>TBC1D24</i>-related disorder has not been considered because an individual has atypical phenotypic features, <b>comprehensive</b>
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<b>genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible. To date, the majority of <i>TBC1D24</i> pathogenic variants reported (e.g., missense, nonsense) are within the coding region and are likely to be identified on exome sequencing.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTmoleculargenetictesting"><a href="/books/NBK274566/table/tbc1d24-dis.T.molecular_genetic_testing/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTmoleculargenetictesting"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.molecular_genetic_testing"><a href="/books/NBK274566/table/tbc1d24-dis.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobtbc1d24disTmoleculargenetictesting">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in <i>TBC1D24</i>-Related Disorders </p></div></div></div></div></div><div id="tbc1d24-dis.Clinical_Characteristics"><h2 id="_tbc1d24-dis_Clinical_Characteristics_">Clinical Characteristics</h2><div id="tbc1d24-dis.Clinical_Description"><h3>Clinical Description</h3><p>Pathogenic variants in <i>TBC1D24</i> are associated with a spectrum of epilepsy and hearing loss phenotypes, including DOORS syndrome (<i>d</i>eafness, <i>o</i>nychodystrophy, <i>o</i>steodystrophy, mental <i>r</i>etardation, and <i>s</i>eizures), familial infantile myoclonic epilepsy (FIME), progressive myoclonic epilepsy (PME), rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC), developmental and epileptic encephalopathy (DEE) including epilepsy of infancy with migrating focal seizures (EIMFS), autosomal recessive nonsyndromic hearing loss (DFNB), and autosomal dominant nonsyndromic hearing loss (DFNA).</p><p>The contribution of <i>TBC1D24</i> variants to these phenotypes is shown in <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_f/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersf">Table 3</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTepilepsydeafnessphenotype"><a href="/books/NBK274566/table/tbc1d24-dis.T.epilepsydeafness_phenotype/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTepilepsydeafnessphenotype"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.epilepsydeafness_phenotype"><a href="/books/NBK274566/table/tbc1d24-dis.T.epilepsydeafness_phenotype/?report=objectonly" target="object" rid-ob="figobtbc1d24disTepilepsydeafnessphenotype">Table 2. </a></h4><p class="float-caption no_bottom_margin">Epilepsy/Deafness Phenotypes in <i>TBC1D24</i>-Related Disorders </p></div></div><p>To date, at least 200 individuals have been identified with pathogenic variant(s) in <i>TBC1D24</i> [<a class="bibr" href="#tbc1d24-dis.REF.corbett.2010.371" rid="tbc1d24-dis.REF.corbett.2010.371">Corbett et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.falace.2010.365" rid="tbc1d24-dis.REF.falace.2010.365">Falace et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.afawi.2013.240" rid="tbc1d24-dis.REF.afawi.2013.240">Afawi et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.guven.2013.199" rid="tbc1d24-dis.REF.guven.2013.199">Guven & Tolun 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.azaiez.2014.819" rid="tbc1d24-dis.REF.azaiez.2014.819">Azaiez et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.rehman.2014.144" rid="tbc1d24-dis.REF.rehman.2014.144">Rehman et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2014.814" rid="tbc1d24-dis.REF.zhang.2014.814">Zhang et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.bakhchane.2015.e0138072" rid="tbc1d24-dis.REF.bakhchane.2015.e0138072">Bakhchane et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.muona.2015.39" rid="tbc1d24-dis.REF.muona.2015.39">Muona et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.poulat.2015.72" rid="tbc1d24-dis.REF.poulat.2015.72">Poulat et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.appavu.2016.324" rid="tbc1d24-dis.REF.appavu.2016.324">Appavu et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.de_kovel.2016.568" rid="tbc1d24-dis.REF.de_kovel.2016.568">de Kovel et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.lozano.2016.3207" rid="tbc1d24-dis.REF.lozano.2016.3207">Lozano et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.hamdan.2017.664" rid="tbc1d24-dis.REF.hamdan.2017.664">Hamdan et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.atli.2018.1" rid="tbc1d24-dis.REF.atli.2018.1">Atli et al 2018</a>, <a class="bibr" href="#tbc1d24-dis.REF.danialfarran.2018.1840" rid="tbc1d24-dis.REF.danialfarran.2018.1840">Danial-Farran et al 2018</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.l_thy.2019.2319" rid="tbc1d24-dis.REF.l_thy.2019.2319">Lüthy et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.nakashima.2019.645" rid="tbc1d24-dis.REF.nakashima.2019.645">Nakashima et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.wang.2019.26" rid="tbc1d24-dis.REF.wang.2019.26">Wang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.boucher.2020.31278" rid="tbc1d24-dis.REF.boucher.2020.31278">Boucher et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.hong.2020.281" rid="tbc1d24-dis.REF.hong.2020.281">Hong et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.parzefall.2020.585669" rid="tbc1d24-dis.REF.parzefall.2020.585669">Parzefall et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.safka_brozkova.2020.548" rid="tbc1d24-dis.REF.safka_brozkova.2020.548">Safka Brozkova et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.salemi.2020.381" rid="tbc1d24-dis.REF.salemi.2020.381">Salemi et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.steel.2020.372" rid="tbc1d24-dis.REF.steel.2020.372">Steel et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.tona.2020.1122" rid="tbc1d24-dis.REF.tona.2020.1122">Tona et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.uzunhan.2020.106080" rid="tbc1d24-dis.REF.uzunhan.2020.106080">Uzunhan & Uyanik 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.xiang.2020.e1539" rid="tbc1d24-dis.REF.xiang.2020.e1539">Xiang et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.chen.2021.1004" rid="tbc1d24-dis.REF.chen.2021.1004">Chen et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.fang.2021.106669" rid="tbc1d24-dis.REF.fang.2021.106669">Fang et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.ozi_b_o.2021.10300" rid="tbc1d24-dis.REF.ozi_b_o.2021.10300">Oziębło et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.panjan.2021.68" rid="tbc1d24-dis.REF.panjan.2021.68">Panjan et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.lee.2022.107142" rid="tbc1d24-dis.REF.lee.2022.107142">Lee et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.quaio.2022.921324" rid="tbc1d24-dis.REF.quaio.2022.921324">Quaio et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.reis.2022.1" rid="tbc1d24-dis.REF.reis.2022.1">Reis et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.shao.2022.106923" rid="tbc1d24-dis.REF.shao.2022.106923">Shao et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhao.2022.4439" rid="tbc1d24-dis.REF.zhao.2022.4439">Zhao et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.hosseinpour.2023.381" rid="tbc1d24-dis.REF.hosseinpour.2023.381">Hosseinpour et al 2023</a>, <a class="bibr" href="#tbc1d24-dis.REF.jiang.2023.e2269" rid="tbc1d24-dis.REF.jiang.2023.e2269">Jiang et al 2023</a>, <a class="bibr" href="#tbc1d24-dis.REF.lei.2024.4734" rid="tbc1d24-dis.REF.lei.2024.4734">Lei et al 2024</a>]<i>.</i> The following description of the phenotypic features associated with this condition is based on these reports.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24relateddisordersf"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_f/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24relateddisordersf"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24related_disorders_f"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_f/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersf">Table 3. </a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i>-Related Disorders: Frequency of Select Features </p></div></div><div id="tbc1d24-dis.DOORS_Syndrome"><h4>DOORS Syndrome</h4><p><b>The five major features</b> of DOORS syndrome are profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures [<a class="bibr" href="#tbc1d24-dis.REF.james.2007.2821" rid="tbc1d24-dis.REF.james.2007.2821">James et al 2007</a>, <a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>].</p><p>Sensorineural hearing loss is often profound and prelingual. Some individuals have benefited from cochlear implants.</p><p>Onychoosteodystrophy affects the hands and feet equally. Small or absent nails (onychodystrophy) and hypoplastic terminal phalanges (osteodystrophy) are noted in most individuals. A triphalangeal thumb is present in one third of affected individuals.</p><p>Intellectual disability can vary significantly in degree but is often severe [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.atli.2018.1" rid="tbc1d24-dis.REF.atli.2018.1">Atli et al 2018</a>]. When such details were available, motor and language skills were most delayed [<a class="bibr" href="#tbc1d24-dis.REF.nomura.2009.75" rid="tbc1d24-dis.REF.nomura.2009.75">Nomura et al 2009</a>, <a class="bibr" href="#tbc1d24-dis.REF.girish.2011.479" rid="tbc1d24-dis.REF.girish.2011.479">Girish et al 2011</a>]. One child had autism spectrum disorder [<a class="bibr" href="#tbc1d24-dis.REF.nomura.2009.75" rid="tbc1d24-dis.REF.nomura.2009.75">Nomura et al 2009</a>].</p><p>Seizures, present in most individuals with DOORS syndrome, usually start in the first year of life. The seizures are more often generalized tonic-clonic, but myoclonic, partial, and absence seizures also occur. Occasionally their frequency or severity increases. In several instances, seizures have been difficult to control even with multiple anti-seizure medications and have led to status epilepticus and death.</p><p>On brain MRI, hyperintense T<sub>2</sub>-weighted signal anomalies may be observed in the cerebellar hemispheres and the frontal regions [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>].</p><p><b>Nonspecific dysmorphic features.</b> A wide nasal base and a bulbous nose are the most common facial dysmorphisms. Other findings in a minority of individuals include narrow forehead, narrow or high-arched palate, broad alveolar ridge, short frenulum, and nevus simplex on the glabella and nose.</p><p><b>Other features.</b> In individuals with DOORS syndrome, several additional anomalies may be noted, including the following [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>]:</p><ul><li class="half_rhythm"><div>Microcephaly (estimated to occur in one third of individuals)</div></li><li class="half_rhythm"><div>Other cranial anomalies (sagittal craniosynostosis, frontal bossing, trigonocephaly, or brachycephaly in several other affected individuals)</div></li><li class="half_rhythm"><div>Dental anomalies (delayed eruption, wide spacing, and abnormal shape, size, and number)</div></li><li class="half_rhythm"><div>Congenital heart defects (e.g., double outlet right ventricle, atrial septal defect, third-degree atrioventricular block)</div></li><li class="half_rhythm"><div>Skeletal anomalies (e.g., calcaneal deformities)</div></li><li class="half_rhythm"><div>Hypothyroidism</div></li><li class="half_rhythm"><div>Renal and urinary tract anomalies (e.g., hydronephrosis, nephrocalcinosis)</div></li><li class="half_rhythm"><div>Elevated levels of urinary 2-oxoglutaric acid, which can fluctuate between normal and elevated over time [<a class="bibr" href="#tbc1d24-dis.REF.patton.1987.207" rid="tbc1d24-dis.REF.patton.1987.207">Patton et al 1987</a>, <a class="bibr" href="#tbc1d24-dis.REF.van_bever.2007.763" rid="tbc1d24-dis.REF.van_bever.2007.763">van Bever et al 2007</a>, <a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>]</div></li><li class="half_rhythm"><div>Visual impairment [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>]</div></li><li class="half_rhythm"><div>Peripheral neuropathy (in 1 individual with confirmed <i>TBC1D24</i> pathogenic variants [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et la 2016</a>] and 3 individuals who either did not undergo genetic testing or in whom no <i>TBC1D24</i> pathogenic variant was identified)</div></li><li class="half_rhythm"><div>Hypochromic microcytic anemia (reported in at least 1 individual with confirmed <i>TBC1D24</i> pathogenic variants [<a class="bibr" href="#tbc1d24-dis.REF.atli.2018.1" rid="tbc1d24-dis.REF.atli.2018.1">Atli et al 2018</a>])</div></li></ul></div><div id="tbc1d24-dis.Familial_Infantile_Myoclonic"><h4>Familial Infantile Myoclonic Epilepsy (FIME)</h4><p><i>TBC1D24</i>-related FIME is characterized by early-onset myoclonic seizures. Findings include focal epilepsy, dysarthria, mild-to-moderate intellectual disability, and cerebellar abnormalities including symmetrical and bilateral selective atrophy and signal abnormality (including decreased T<sub>1</sub> signal and increased FLAIR and T<sub>2</sub> signal with blurring of the gray-white boundary in the ansiform lobule on brain MRI) [<a class="bibr" href="#tbc1d24-dis.REF.corbett.2010.371" rid="tbc1d24-dis.REF.corbett.2010.371">Corbett et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.afawi.2013.240" rid="tbc1d24-dis.REF.afawi.2013.240">Afawi et al 2013</a>].</p><p>Intellect may be normal; all seven members of an Italian family with FIME and biallelic <i>TBC1D24</i> pathogenic variants had normal intelligence. Six had normal brain imaging and one had periventricular nodular heterotopia [<a class="bibr" href="#tbc1d24-dis.REF.zara.2000.1552" rid="tbc1d24-dis.REF.zara.2000.1552">Zara et al 2000</a>, <a class="bibr" href="#tbc1d24-dis.REF.de_falco.2001.1541" rid="tbc1d24-dis.REF.de_falco.2001.1541">de Falco et al 2001</a>, <a class="bibr" href="#tbc1d24-dis.REF.falace.2010.365" rid="tbc1d24-dis.REF.falace.2010.365">Falace et al 2010</a>].</p></div><div id="tbc1d24-dis.Progressive_Myoclonic_Epilep"><h4>Progressive Myoclonic Epilepsy (PME)</h4><p><i>TBC1D24</i>-related PME is characterized by action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline. In one child with PME and biallelic pathogenic variants in <i>TBC1D24</i>, tonic seizures started 36 hours after birth. Developmental delay and later regression were reported. Myoclonus started at age eight months and tonic-clonic seizures at age 3.5 years. Ataxia, spasticity, supranuclear gaze palsy, and visual function decline were also noted. Although the initial clinical diagnosis was epileptic encephalopathy, a florid PME pattern became apparent by age nine years [<a class="bibr" href="#tbc1d24-dis.REF.muona.2015.39" rid="tbc1d24-dis.REF.muona.2015.39">Muona et al 2015</a>]. There were no digital anomalies or deafness [S Berkovic, personal observation]. Two additional sporadic individuals have been reported with PME caused by biallelic <i>TBC1D24</i> variants. The clinical manifestations included prominent myoclonus, cerebellar ataxia, and developmental delay. Seizure onset was at ages three and seven months, respectively. Both individuals had cerebellar atrophy with hyperintense T<sub>2</sub> signals; one also had global cerebral atrophy [<a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>]. In one of the affected individuals, hearing was assessed to be normal before age 9 years. However, bilateral profound sensorineural deafness became apparent on subsequent auditory testing.</p></div><div id="tbc1d24-dis.Rolandic_Epilepsy_with_Parox"><h4>Rolandic Epilepsy with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp (EPRPDC)</h4><p><i>TBC1D24</i>-related EPRPDC is a syndrome with onset in infancy, featuring focal motor seizures, often hemifacial, centrotemporal EEG abnormalities, and paroxysmal dystonia precipitated by sustained exercise or emotional stress. Exercise-induced dystonia includes forearm dystonia that causes writing to progressively become scribbled and then impossible after a few minutes. Data on long-term follow up show that focal motor seizures, manifesting infrequently after infancy, respond to carbamazepine or oxcarbazepine treatment, with no relapse in adulthood. Exercise-induced dystonia can still be present, although attacks are less frequent in adulthood, with affected individuals reported to have learned how to limit fatigue or physical exercise by modulating their activities.</p><p>Adult individuals can still exhibit mild nystagmus and postural tremor of the hands. Trihexyphenidyl can be effective as an anti-tremor drug. Treatment with carbidopa/levodopa, lamotrigine, and benzodiazepines can be effective for treatment of dystonic attacks or seizures. Acetazolamide, flunarizine, valproate, and levetiracetam have been reported as ineffective. Treatment with ubidecarenone was tentatively started at age 30 years in one individual who reported no overall benefits and ceased medication after two months, as seizures had long been under remission and exercise-induced dystonia episodes were rare at the time [<a class="bibr" href="#tbc1d24-dis.REF.guerrini.1999.344" rid="tbc1d24-dis.REF.guerrini.1999.344">Guerrini et al 1999</a>, <a class="bibr" href="#tbc1d24-dis.REF.l_thy.2019.2319" rid="tbc1d24-dis.REF.l_thy.2019.2319">Lüthy et al 2019</a>].</p><p>Brain MRI is typically normal including in adulthood in most individuals [<a class="bibr" href="#tbc1d24-dis.REF.l_thy.2019.2319" rid="tbc1d24-dis.REF.l_thy.2019.2319">Lüthy et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.hosseinpour.2023.381" rid="tbc1d24-dis.REF.hosseinpour.2023.381">Hosseinpour et al 2023</a>]. Mild nonprogressive pontocerebellar hypoplasia was reported in one individual [<a class="bibr" href="#tbc1d24-dis.REF.steel.2020.372" rid="tbc1d24-dis.REF.steel.2020.372">Steel et al 2020</a>].</p></div><div id="tbc1d24-dis.Developmental_and_Epileptic"><h4>Developmental and Epileptic Encephalopathy (DEE)</h4><p>Clinical manifestations in individuals with <i>TBC1D24</i>-related DEE include myoclonic epilepsy with episodic dystonia, hemiparesis, autonomic signs, and lethargy evolving to chronic dystonia, progressive diffuse cerebral atrophy, and early death. Several families [<a class="bibr" href="#tbc1d24-dis.REF.guven.2013.199" rid="tbc1d24-dis.REF.guven.2013.199">Guven & Tolun 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.lozano.2016.3207" rid="tbc1d24-dis.REF.lozano.2016.3207">Lozano et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.panjan.2021.68" rid="tbc1d24-dis.REF.panjan.2021.68">Panjan et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.lee.2022.107142" rid="tbc1d24-dis.REF.lee.2022.107142">Lee et al 2022</a>] and 21 additional unrelated individuals have been reported [<a class="bibr" href="#tbc1d24-dis.REF.appavu.2016.324" rid="tbc1d24-dis.REF.appavu.2016.324">Appavu et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.de_kovel.2016.568" rid="tbc1d24-dis.REF.de_kovel.2016.568">de Kovel et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.hamdan.2017.664" rid="tbc1d24-dis.REF.hamdan.2017.664">Hamdan et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.nakashima.2019.645" rid="tbc1d24-dis.REF.nakashima.2019.645">Nakashima et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.hong.2020.281" rid="tbc1d24-dis.REF.hong.2020.281">Hong et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.salemi.2020.381" rid="tbc1d24-dis.REF.salemi.2020.381">Salemi et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.uzunhan.2020.106080" rid="tbc1d24-dis.REF.uzunhan.2020.106080">Uzunhan & Uyanik 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.chen.2021.1004" rid="tbc1d24-dis.REF.chen.2021.1004">Chen et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhao.2022.4439" rid="tbc1d24-dis.REF.zhao.2022.4439">Zhao et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.jiang.2023.e2269" rid="tbc1d24-dis.REF.jiang.2023.e2269">Jiang et al 2023</a>].</p><p><b>Epilepsy of infancy with migrating focal seizures (EIMFS).</b> Epilepsy of infancy with migrating focal seizures (EIMFS) is a type of DEE characterized by seizure migration between cerebral hemispheres and profound developmental impairment often with regression. Seizure onset occurs in the first six months of life, with seizures that often increase in frequency over the first few months and are refractory to anti-seizure medications. This phenotype has been reported in French sibs [<a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>]. Several additional unrelated individuals have also been reported [<a class="bibr" href="#tbc1d24-dis.REF.appavu.2016.324" rid="tbc1d24-dis.REF.appavu.2016.324">Appavu et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.fang.2021.106669" rid="tbc1d24-dis.REF.fang.2021.106669">Fang et al 2021</a>].</p></div><div id="tbc1d24-dis.Autosomal_Recessive_Nonsyndr"><h4>Autosomal Recessive Nonsyndromic Hearing Loss (DFNB)</h4><p>Clinical findings in individuals with <i>TBC1D24</i>-related DFNB include profound prelingual deafness with hearing thresholds above 90 dB for all test frequencies (in 2 consanguineous Pakistani families; one affected family member and one individual with a heterozygous <i>TBC1D24</i> pathogenic variant also had seizures [<a class="bibr" href="#tbc1d24-dis.REF.rehman.2014.144" rid="tbc1d24-dis.REF.rehman.2014.144">Rehman et al 2014</a>]).</p><p>Additional compound heterozygous pathogenic variants have been reported in three Moroccan families [<a class="bibr" href="#tbc1d24-dis.REF.bakhchane.2015.e0138072" rid="tbc1d24-dis.REF.bakhchane.2015.e0138072">Bakhchane et al 2015</a>], one consaguineous family of the Arab population of northern Israel [<a class="bibr" href="#tbc1d24-dis.REF.danialfarran.2018.1840" rid="tbc1d24-dis.REF.danialfarran.2018.1840">Danial-Farran et al 2018</a>], one non-consaguineous Pakistani family [<a class="bibr" href="#tbc1d24-dis.REF.tona.2020.1122" rid="tbc1d24-dis.REF.tona.2020.1122">Tona et al 2020</a>], and several unrelated individuals of Czech [<a class="bibr" href="#tbc1d24-dis.REF.safka_brozkova.2020.548" rid="tbc1d24-dis.REF.safka_brozkova.2020.548">Safka Brozkova et al 2020</a>], Chinese [<a class="bibr" href="#tbc1d24-dis.REF.xiang.2020.e1539" rid="tbc1d24-dis.REF.xiang.2020.e1539">Xiang et al 2020</a>], Portuguese [<a class="bibr" href="#tbc1d24-dis.REF.reis.2022.1" rid="tbc1d24-dis.REF.reis.2022.1">Reis et al 2022</a>], and Brazilian ancestry [<a class="bibr" href="#tbc1d24-dis.REF.quaio.2022.921324" rid="tbc1d24-dis.REF.quaio.2022.921324">Quaio et al 2022</a>].</p></div><div id="tbc1d24-dis.Autosomal_Dominant_Nonsyndro"><h4>Autosomal Dominant Nonsyndromic Hearing Loss (DFNA)</h4><p>Clinical findings in individuals with <i>TBC1D24</i>-related DFNA include slowly progressive deafness with onset in the third decade, initially affecting high frequencies (in a Chinese family [<a class="bibr" href="#tbc1d24-dis.REF.zhang.2014.814" rid="tbc1d24-dis.REF.zhang.2014.814">Zhang et al 2014</a>] and in a family of European descent [<a class="bibr" href="#tbc1d24-dis.REF.azaiez.2014.819" rid="tbc1d24-dis.REF.azaiez.2014.819">Azaiez et al 2014</a>]). Additional heterozygous pathogenic variants in <i>TBC1D24</i> have been reported in two northern European, two Polish, one Brazilian, and one Chinese family with autosomal dominant nonsyndromic late-onset hearing loss [<a class="bibr" href="#tbc1d24-dis.REF.parzefall.2020.585669" rid="tbc1d24-dis.REF.parzefall.2020.585669">Parzefall et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.ozi_b_o.2021.10300" rid="tbc1d24-dis.REF.ozi_b_o.2021.10300">Oziębło et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.quaio.2022.921324" rid="tbc1d24-dis.REF.quaio.2022.921324">Quaio et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.lei.2024.4734" rid="tbc1d24-dis.REF.lei.2024.4734">Lei et al 2024</a>] and in one French individual [<a class="bibr" href="#tbc1d24-dis.REF.boucher.2020.31278" rid="tbc1d24-dis.REF.boucher.2020.31278">Boucher et al 2020</a>].</p></div><div id="tbc1d24-dis.Other_Phenotypes"><h4>Other Phenotypes</h4><p>Other phenotypes seen in individuals with biallelic <i>TBC1D24</i> pathogenic variants include parkinsonism [<a class="bibr" href="#tbc1d24-dis.REF.banuelos.2017.553" rid="tbc1d24-dis.REF.banuelos.2017.553">Banuelos et al 2017</a>], ataxia, dysarthria, axial hypotonia, hearing loss, visual impairment, mild dysmorphic facial features, developmental delay or intellectual disability, microcephaly [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>], alternating hemiplegia of childhood [<a class="bibr" href="#tbc1d24-dis.REF.ragona.2017.71" rid="tbc1d24-dis.REF.ragona.2017.71">Ragona et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.cordani.2022.69" rid="tbc1d24-dis.REF.cordani.2022.69">Cordani et al 2022</a>], non-convulsive status epilepticus (NCSE), cerebellar ataxia and ophthalmoplegia [<a class="bibr" href="#tbc1d24-dis.REF.li.2018.623" rid="tbc1d24-dis.REF.li.2018.623">Li et al 2018</a>], epilepsia partialis continua [<a class="bibr" href="#tbc1d24-dis.REF.zhou.2018.750" rid="tbc1d24-dis.REF.zhou.2018.750">Zhou et al 2018</a>], infantile-onset paroxysmal movement disorder and episodic ataxia [<a class="bibr" href="#tbc1d24-dis.REF.zimmern.2019.308" rid="tbc1d24-dis.REF.zimmern.2019.308">Zimmern et al 2019</a>], and multifocal polymyoclonus with or without neurodevelopmental delay [<a class="bibr" href="#tbc1d24-dis.REF.ngoh.2017.452" rid="tbc1d24-dis.REF.ngoh.2017.452">Ngoh et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.murofushi.2023.719" rid="tbc1d24-dis.REF.murofushi.2023.719">Murofushi et al 2023</a>, <a class="bibr" href="#tbc1d24-dis.REF.sar_gec_l_.2023.290" rid="tbc1d24-dis.REF.sar_gec_l_.2023.290">Sarıgecılı & Anlas 2023</a>].</p></div><div id="tbc1d24-dis.Heterozygotes"><h4>Heterozygotes</h4><p>Several clinical features have been observed in individuals who have heterozygous pathogenic <i>TBC1D24</i> variants in the context of autosomal recessive disease.</p><p>Two unrelated individuals with generalized tonic-clonic seizures and biallelic pathogenic <i>TBC1D24</i> variants had a family history of hearing loss, but the relatives with hearing loss were not tested for a heterozygous <i>TBC1D24</i> pathogenic variant. In one family the affected individual's brother had hearing loss, and in the other family the affected individual's maternal grandmother had hearing loss [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>].</p><p>In a family with autosomal recessive hearing loss, an individual with a heterozygous <i>TBC1D24</i> pathogenic variant (c.208G>T [p.Asp70Tyr]) developed seizures starting at age three years [<a class="bibr" href="#tbc1d24-dis.REF.rehman.2014.144" rid="tbc1d24-dis.REF.rehman.2014.144">Rehman et al 2014</a>].</p><p>A family history of seizures was also reported in two families with DOORS syndrome, including a mother who was heterozygous for the <i>TBC1D24</i> pathogenic variant <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">c.1008delT [p.His336GlnfsTer12]</a> and had absence seizures in childhood [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>] and a heterozygous father [Balestrini et al 2016 (supplemental material)].</p><p>In a family with an atypical neurologic phenotype in the proband, the affected individual's mother and her brother had seizures in childhood and adolescence, respectively. Both were confirmed to have a heterozygous pathogenic <i>TBC1D24</i> variant (c.404C>T [p.Pro135Leu]) [<a class="bibr" href="#tbc1d24-dis.REF.banuelos.2017.553" rid="tbc1d24-dis.REF.banuelos.2017.553">Banuelos et al 2017</a>].</p></div></div><div id="tbc1d24-dis.GenotypePhenotype_Correlatio"><h3>Genotype-Phenotype Correlations</h3><p><i>TBC1D24</i> pathogenic variants are located throughout the gene.</p><ul><li class="half_rhythm"><div>In general, loss-of-function (LOF) variants (frameshift, nonsense, or splice site variants) are associated with more severe epilepsy phenotypes with resistance to anti-seizure medications (ASM) and early death, except when the LOF variant is in the last exon.</div></li><li class="half_rhythm"><div>TBC1D24 (TBC1 domain family member 24; protein encoded by <i>TBC1D24</i>) has two functional domains: a proximal TBC domain and a distal TLDc domain. Pathogenic missense variants in or before the TBC domain are associated with a higher risk of mortality [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>].</div></li><li class="half_rhythm"><div>To date, all known pathogenic variants of <i>TBC1D24</i> associated with autosomal dominant inherited deafness have been missense variants [<a class="bibr" href="#tbc1d24-dis.REF.lei.2024.4734" rid="tbc1d24-dis.REF.lei.2024.4734">Lei et al 2024</a>].</div></li></ul><p><b>Interfamilial clinical heterogeneity.</b> Some pathogenic variants causing one phenotype have been demonstrated to cause other phenotypes in different families. Examples include:</p><ul><li class="half_rhythm"><div>The <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">p.Ala500Val</a> heterozygous variant, which has been identified in compound heterozygous individuals with EIMFS (n=3), infantile myoclonic epilepsy (n=1), and nonconvulsive status epilepticus (NCSE), cerebellar ataxia, and ophthalmoplegia (n=1);</div></li><li class="half_rhythm"><div>The <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">c.1008delT</a> frameshift variant, which has been identified in compound heterozygous individuals with DOORS syndrome (n=2) and one sib pair with DEE and early death (n=2);</div></li><li class="half_rhythm"><div>The <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">p.Ala39Val</a> pathogenic variant, which has been identified in compound heterozygous individuals with EIMFS (n=1) and alternating hemiplegia of childhood and epilepsia partialis continua (n=1);</div></li><li class="half_rhythm"><div>The <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">p.Gln207Term</a> pathogenic variant, which has been identified in compound heterozygous individuals with EIMFS (n=1), infantile myoclonic epilepsy (n=1), and generalised epilepsy, DOORS syndrome, and parkinsonism (n=1).</div></li></ul><p><b>Intrafamilial clinical heterogeneity.</b> The <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">c.965+1G>A</a> pathogenic splice site variant has been identified in <i>trans</i> with the <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">c.641G>A (p.Arg214His)</a> pathogenic missense variant in a Pakistani family in whom affected individuals exhibited either a deafness-seizure syndrome or nonsyndromic deafness.</p></div><div id="tbc1d24-dis.Penetrance"><h3>Penetrance</h3><p>Penetrance of <i>TBC1D24</i>-related disorders appears to be high, at least for the conditions known to be inherited in an autosomal recessive pattern, but variable expressivity, even within the same phenotype, has been described. Penetrance is not different between males and females. DFNA usually manifests in the third decade of life.</p></div><div id="tbc1d24-dis.Nomenclature"><h3>Nomenclature</h3><p>The acronym "DOOR syndrome" was coined in 1975 [<a class="bibr" href="#tbc1d24-dis.REF.cantwell.1975.261" rid="tbc1d24-dis.REF.cantwell.1975.261">Cantwell 1975</a>]. Subsequently, <a class="bibr" href="#tbc1d24-dis.REF.qazi.1984.391" rid="tbc1d24-dis.REF.qazi.1984.391">Qazi & Nangia [1984]</a> suggested adding an "S" (DOORS syndrome) because of the seizures present in most individuals. Other terms used for this condition include digito-reno-cerebral syndrome [<a class="bibr" href="#tbc1d24-dis.REF.eronen.1985.281" rid="tbc1d24-dis.REF.eronen.1985.281">Eronen et al 1985</a>] and Eronen syndrome [<a class="bibr" href="#tbc1d24-dis.REF.le_merrer.1992.196" rid="tbc1d24-dis.REF.le_merrer.1992.196">Le Merrer et al 1992</a>].</p><p>Developmental and epileptic encephalopathies (DEE) are defined by the International League Against Epilepsy (ILAE) as conditions in which epileptiform EEG abnormalities themselves are believed to contribute to progressive disturbance in cerebral function [<a class="bibr" href="#tbc1d24-dis.REF.scheffer.2017.512" rid="tbc1d24-dis.REF.scheffer.2017.512">Scheffer et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.scheffer.2024.61" rid="tbc1d24-dis.REF.scheffer.2024.61">Scheffer et al 2024</a>].</p><p>Epilepsy of infancy with migrating focal seizures (EIMFS) – a type of DEE – was initially referred to as migrating partial seizures of infancy (MMPSI) [<a class="bibr" href="#tbc1d24-dis.REF.coppola.1995.1017" rid="tbc1d24-dis.REF.coppola.1995.1017">Coppola et al 1995</a>, <a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>].</p></div><div id="tbc1d24-dis.Prevalence"><h3>Prevalence</h3><p>The prevalence of <i>TBC1D24</i>-related disorders is very low. To date, fewer than 50 families with DOORS syndrome are known. <i>TBC1D24</i> pathogenic variants have been identified in individuals from different populations, including Moroccan, Pakistani, Czech, Chinese, Brazilian, Polish, and northern European.</p></div></div><div id="tbc1d24-dis.Genetically_Related_Allelic"><h2 id="_tbc1d24-dis_Genetically_Related_Allelic_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with germline pathogenic variants in <i>TBC1D24.</i></p><p>A <b>contiguous gene deletion</b> involving <i>TBC1D24</i>, <i>ATP6V0C</i>, and <i>PDPK1</i> has been reported in individuals with epilepsy, microcephaly, and developmental delay [<a class="bibr" href="#tbc1d24-dis.REF.mucha.2019.1058" rid="tbc1d24-dis.REF.mucha.2019.1058">Mucha et al 2019</a>].</p></div><div id="tbc1d24-dis.Differential_Diagnosis"><h2 id="_tbc1d24-dis_Differential_Diagnosis_">Differential Diagnosis</h2><div id="tbc1d24-dis.DOORS_Syndrome_1"><h3>DOORS Syndrome</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTgeneticdisordersinthed"><a href="/books/NBK274566/table/tbc1d24-dis.T.genetic_disorders_in_the_d/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTgeneticdisordersinthed"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.genetic_disorders_in_the_d"><a href="/books/NBK274566/table/tbc1d24-dis.T.genetic_disorders_in_the_d/?report=objectonly" target="object" rid-ob="figobtbc1d24disTgeneticdisordersinthed">Table 4. </a></h4><p class="float-caption no_bottom_margin">Genetic Disorders in the Differential Diagnosis of DOORS Syndrome </p></div></div><p><b>Fetal anticonvulsant syndrome,</b> also associated with intellectual disability, developmental delay, and nail hypoplasia, can be considered in the differential diagnosis of DOORS syndrome. However, fetal anticonvulsant syndrome is not associated with hearing loss or seizures and is further characterized by dental abnormalities with delayed eruption, talipes equinovarus, and otitis media with effusion.</p></div><div id="tbc1d24-dis.Familial_Infantile_Myoclonic_1"><h3>Familial Infantile Myoclonic Epilepsy (FIME) and Progressive Myoclonus Epilepsy (PME)</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTdisorderstoconsiderint"><a href="/books/NBK274566/table/tbc1d24-dis.T.disorders_to_consider_in_t/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTdisorderstoconsiderint"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.disorders_to_consider_in_t"><a href="/books/NBK274566/table/tbc1d24-dis.T.disorders_to_consider_in_t/?report=objectonly" target="object" rid-ob="figobtbc1d24disTdisorderstoconsiderint">Table 5. </a></h4><p class="float-caption no_bottom_margin">Disorders to Consider in the Differential Diagnosis of FIME and PME </p></div></div></div><div id="tbc1d24-dis.Developmental_and_Epileptic_1"><h3>Developmental and Epileptic Encephalopathy (DEE)</h3><p>DEE is genetically heterogeneous. More than 100 genes are known to be associated with DEE. See <a href="https://omim.org/phenotypicSeries/PS308350" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM Phenotypic Series: Developmental and epileptic encephalopathy</a> to view genes associated with this phenotype in OMIM.</p></div><div id="tbc1d24-dis.Hereditary_Hearing_Loss_and"><h3>Hereditary Hearing Loss and Deafness</h3><p>See <a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>.</p></div></div><div id="tbc1d24-dis.Management"><h2 id="_tbc1d24-dis_Management_">Management</h2><p>No clinical practice guidelines for <i>TBC1D24</i>-related disorders have been published.</p><div id="tbc1d24-dis.Evaluations_Following_Initia"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with a <i>TBC1D24</i>-related disorder, the evaluations summarized in <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr">Table 6</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24relateddisordersr"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r/?report=objectonly" target="object" title="Table 6. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24related_disorders_r"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr">Table 6. </a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i>-Related Disorders: Recommended Evaluations Following Initial Diagnosis </p></div></div></div><div id="tbc1d24-dis.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>There is no cure for <i>TBC1D24</i>-related disorders. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_t/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisorderst">Table 7</a>).</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24relateddisorderst"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_t/?report=objectonly" target="object" title="Table 7. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24relateddisorderst"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24related_disorders_t"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_t/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisorderst">Table 7. </a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i>-Related Disorders: Treatment of Manifestations </p></div></div><div id="tbc1d24-dis.Developmental_Delay__Intelle"><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 that 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; 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 (US) 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 whether 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 the 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>Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US 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></div><div id="tbc1d24-dis.Motor_Dysfunction"><h4>Motor Dysfunction</h4><p>
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<b>Gross motor dysfunction</b>
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</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>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><div id="tbc1d24-dis.Surveillance"><h3>Surveillance</h3><p>To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in <a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r_1/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr1">Table 8</a> are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24relateddisordersr1"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r_1/?report=objectonly" target="object" title="Table 8. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24related_disorders_r_1"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r_1/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24relateddisordersr1">Table 8. </a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i>-Related Disorders: Recommended Surveillance </p></div></div></div><div id="tbc1d24-dis.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Individuals with a heterozygous <i>TBC1D24</i> pathogenic variant causing autosomal dominant deafness (DFNA) should avoid excessive ambient noise, as it may exacerbate hearing loss.</p></div><div id="tbc1d24-dis.Evaluation_of_Relatives_at_R"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk sibs of an affected individual to identify as early as possible those who would benefit from early treatment of seizures and/or hearing loss.</p><p>See <a href="#tbc1d24-dis.Related_Genetic_Counseling_I">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="tbc1d24-dis.Pregnancy_Management"><h3>Pregnancy Management</h3><p>In general, no information on specific prenatal presentations is available.</p><p>Polyhydramnios is often noted when a fetus has DOORS syndrome [<a class="bibr" href="#tbc1d24-dis.REF.james.2007.2821" rid="tbc1d24-dis.REF.james.2007.2821">James et al 2007</a>]. A subsequent affected pregnancy in one family with DOORS syndrome was terminated due to an increased nuchal translucency of 5.1 mm at 12 weeks' estimated gestational age [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>].</p></div><div id="tbc1d24-dis.Therapies_Under_Investigatio"><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="tbc1d24-dis.Genetic_Counseling"><h2 id="_tbc1d24-dis_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="tbc1d24-dis.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Most <i>TBC1D24</i>-related disorders are inherited in an autosomal recessive manner, including DOORS syndrome, familial infantile myoclonic epilepsy (FIME), progressive myoclonic epilepsy (PME), rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC), and developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS).</p><p><i>TBC1D24</i>-related nonsyndromic hearing loss can be inherited in an autosomal recessive (DFNB) or an autosomal dominant (DFNA) manner. For a review of genetic counseling issues associated with nonsyndromic hearing loss, see Genetic Hearing Loss Overview, <a href="/books/n/gene/deafness-overview/?report=reader#deafness-overview.Genetic_Counseling">Genetic Counseling</a>.</p></div><div id="tbc1d24-dis.Risk_to_Family_Members_Autos"><h3>Risk to Family Members (Autosomal Recessive Inheritance)</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The parents of an affected child are presumed to be heterozygous for a <i>TBC1D24</i> pathogenic variant.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for a <i>TBC1D24</i> pathogenic variant and to allow reliable recurrence risk assessment.</div></li><li class="half_rhythm"><div>If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#tbc1d24-dis.REF.j_nsson.2017.519" rid="tbc1d24-dis.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are typically asymptomatic. It is possible that certain <i>TBC1D24</i> pathogenic variants may be associated with an increased susceptibility to seizures in heterozygotes, but genotype-phenotype correlation is lacking and no risk estimates are available (see Clinical Description, <a href="#tbc1d24-dis.Heterozygotes">Heterozygotes</a>).</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for a <i>TBC1D24</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the familial <i>TBC1D24</i> pathogenic variants.</div></li><li class="half_rhythm"><div>Sibs who inherit biallelic pathogenic variants are likely to have clinical manifestations similar to those in the proband.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are typically asymptomatic. It is possible that certain <i>TBC1D24</i> pathogenic variants may be associated with an elevated susceptibility to seizures in heterozygotes, but genotype-phenotype correlation is lacking and no risk estimates are available (see Clinical Description, <a href="#tbc1d24-dis.Heterozygotes">Heterozygotes</a>).</div></li></ul><p>
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<b>Offspring of a proband</b>
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</p><ul><li class="half_rhythm"><div>To date, individuals with DOORS syndrome, <i>TBC1D24</i>-related PME, and <i>TBC1D24</i>-related DEE are not known to reproduce.</div></li><li class="half_rhythm"><div>The offspring of an individual with <i>TBC1D24</i>-related FIME or <i>TBC1D24</i>-related DFNB are obligate heterozygotes (carriers) for a pathogenic variant in <i>TBC1D24</i>.</div></li></ul><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of a <i>TBC1D24</i> pathogenic variant.</p><p><b>Heterozygote detection.</b> Carrier testing for at-risk relatives requires prior identification of the <i>TBC1D24</i> pathogenic variants in the family.</p></div><div id="tbc1d24-dis.Related_Genetic_Counseling_I"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#tbc1d24-dis.Evaluation_of_Relatives_at_R">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p>
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<b>The following points are noteworthy:</b>
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</p><ul><li class="half_rhythm"><div>Clear communication between individuals with hearing loss, families, and health care providers is key. D/deaf and hard of hearing (DHH) persons may use a variety of communication methods including spoken language, sign language, lip reading, and written notes. For DHH individuals and families who use sign language, a certified sign language interpreter must be used. Communication aids such as visual aids and verbal cues when changing topics can be helpful.</div></li><li class="half_rhythm"><div>It is important to ascertain and address the questions and concerns of the family/individual. DHH persons may be interested in obtaining information about the cause of their hearing loss, including information on medical, educational, and social services. Others may seek information about the chance of having children with hearing loss and information for family planning decisions.</div></li><li class="half_rhythm"><div>The use of neutral or balanced terminology can enhance the provision of services; for example: use of the term "chance" instead of "risk"; "deaf" or "hearing" instead of "affected" or "unaffected"; and "deaf" or "hard of hearing" instead of "hearing impaired." Members of the Deaf community may view deafness as a distinguishing characteristic and not as a handicap, impairment, or medical condition requiring a "treatment" or "cure," or to be "prevented." Terms such as "handicap" should be avoided.</div></li></ul><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.</div></li></ul></div><div id="tbc1d24-dis.Prenatal_Testing_and_Preimpl"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>TBC1D24</i> pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="tbc1d24-dis.Resources"><h2 id="_tbc1d24-dis_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>American Epilepsy Society</b>
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</div><div>
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<a href="https://www.aesnet.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">aesnet.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>American Society for Deaf Children</b>
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</div><div><b>Phone:</b> 800-942-2732 (ASDC)</div><div><b>Email:</b> info@deafchildren.org</div><div>
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<a href="https://deafchildren.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">deafchildren.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>Canadian Epilepsy Alliance</b>
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</div><div>Canada</div><div><b>Phone:</b> 1-866-EPILEPSY (1-866-374-5377)</div><div>
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<a href="https://www.canadianepilepsyalliance.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">canadianepilepsyalliance.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>Epilepsy Foundation</b>
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</div><div><b>Phone:</b> 800-332-1000; 866-748-8008</div><div>
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<a href="https://www.epilepsy.com/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">epilepsy.com</a>
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</div></li><li class="half_rhythm"><div>
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<b>National Association of the Deaf</b>
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</div><div><b>Phone:</b> 301-587-1788 (Purple/ZVRS); 301-328-1443 (Sorenson); 301-338-6380 (Convo)</div><div><b>Fax:</b> 301-587-1791</div><div><b>Email:</b> nad.info@nad.org</div><div>
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<a href="https://www.nad.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">nad.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>National Institute of Neurological Disorders and Stroke (NINDS)</b>
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</div><div><b>Phone:</b> 800-352-9424</div><div>
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<a href="https://www.ninds.nih.gov/Disorders/All-Disorders/Epilepsy-Information-Page" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epilepsy and Seizures</a>
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</div></li></ul>
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</div><div id="tbc1d24-dis.Molecular_Genetics"><h2 id="_tbc1d24-dis_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 class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24dismolgenTA"><a href="/books/NBK274566/table/tbc1d24-dis.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobtbc1d24dismolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.molgen.TA"><a href="/books/NBK274566/table/tbc1d24-dis.molgen.TA/?report=objectonly" target="object" rid-ob="figobtbc1d24dismolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">TBC1D24-Related Disorders: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24dismolgenTB"><a href="/books/NBK274566/table/tbc1d24-dis.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobtbc1d24dismolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.molgen.TB"><a href="/books/NBK274566/table/tbc1d24-dis.molgen.TB/?report=objectonly" target="object" rid-ob="figobtbc1d24dismolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for TBC1D24-Related Disorders (View All in OMIM) </p></div></div><div id="tbc1d24-dis.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>TBC1D24</i> encodes TBC1 domain family member 24 (TBC1D24), a Tre2-Bub2-Cdc16 (TBC) domain-containing RAB GTPase-activating protein, which catalyzes the hydrolysis of GTP by small GTPases, thus regulating the proper transport of intracellular vesicles. TBC1D24 is the only TBC/RabGAP protein with a TLDc domain (TBC, LysM, Domain catalytic); it is of unknown function but is thought to be involved in oxidative stress resistance and may have some enzymatic activity. TBC1D24 has been demonstrated to interact with ARF6 when both proteins are overexpressed in cell culture [<a class="bibr" href="#tbc1d24-dis.REF.falace.2010.365" rid="tbc1d24-dis.REF.falace.2010.365">Falace et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.falace.2014.2337" rid="tbc1d24-dis.REF.falace.2014.2337">Falace et al 2014</a>]. In <i>C elegans</i>, C31H2.1 (a TBC1D24 ortholog) was implicated in synaptic function by an RNAi screen [<a class="bibr" href="#tbc1d24-dis.REF.sieburth.2005.510" rid="tbc1d24-dis.REF.sieburth.2005.510">Sieburth et al 2005</a>]. In <i>Drosophila</i>, the ortholog Skywalker (Sky) facilitates endosomal trafficking in synaptic vesicles by facilitating GTP hydrolysis by Rab35, thus controlling synaptic vesicle rejuvenation and neurotransmitter release [<a class="bibr" href="#tbc1d24-dis.REF.uytterhoeven.2011.117" rid="tbc1d24-dis.REF.uytterhoeven.2011.117">Uytterhoeven et al 2011</a>]. Analysis of the crystal structure of Sky identified a cationic pocket that is preserved in human TBC1D24. This pocket is necessary for binding to the lipid membrane via phosphoinositides phosphorylated at the 4 and 5 positions [<a class="bibr" href="#tbc1d24-dis.REF.fischer.2016.965" rid="tbc1d24-dis.REF.fischer.2016.965">Fischer et al 2016</a>]. TBC1D24 facilitates the formation of tubular recycling endosomes that are a hallmark of the clathrin-independent endocytosis cargo trafficking pathway in HeLa cells. Overexpression of TBC1D24 in HeLa cells dramatically increased tubular recycling endosomes loaded with clathrin-independent endocytosis cargo proteins, while deletion of TBC1D24 impaired tubular recycling endosome formation and delayed the recycling of clathrin-independent endocytosis cargo proteins back to the plasma membrane. TBC1D24 binds to Rab22A, through which TBC1D24 regulates TRE-mediated clathrin-independent cargo recycling [<a class="bibr" href="#tbc1d24-dis.REF.kim_nguyen.2020.220" rid="tbc1d24-dis.REF.kim_nguyen.2020.220">Kim Nguyen et al 2020</a>].</p><p><i>TBC1D24</i>-related disorders inherited in an autosomal recessive manner are thought to be the result of reduced function or loss of function. Abrogation of the cationic pocket by introducing two human pathogenic variants, p.Arg40 and p.Arg242, led to impaired synaptic vesicle trafficking and seizures in <i>Drosophila</i> [<a class="bibr" href="#tbc1d24-dis.REF.fischer.2016.965" rid="tbc1d24-dis.REF.fischer.2016.965">Fischer et al 2016</a>]. The functional consequences of a strong and a weak TLDc variant (Gly501Arg and Arg360His, respectively) have been investigated in <i>Drosophila</i>, where TBC1D24/Skywalker regulates synaptic vesicle trafficking. In a <i>Drosophila</i> model neuronally expressing human TBC1D24, the Gly501Arg variant caused activity-induced locomotion and synaptic vesicle trafficking defects, while the Arg360His was benign. The neuronal phenotypes of the Gly501Arg variant were consistent with exacerbated oxidative stress sensitivity, which was rescued by treating animals with mutated Gly501Arg with antioxidants as indicated by restored synaptic vesicle trafficking levels and sustained behavioral activity. The humanized Gly501Arg fly model exhibited sustained activity and vesicle transport defects [<a class="bibr" href="#tbc1d24-dis.REF.l_thy.2019.2319" rid="tbc1d24-dis.REF.l_thy.2019.2319">Lüthy et al 2019</a>].</p><p>Cellular studies have revealed that disease-causing variants that disrupt either of the conserved protein domains in TBC1D24 are implicated in neuronal development and survival and are likely acting as loss-of-function alleles. Genetic disruption of <i>Tbc1d24</i> expression in mice leads to impaired endocytosis and enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission, demonstrating that TBC1D24 is also crucial for normal presynaptic function [<a class="bibr" href="#tbc1d24-dis.REF.finelli.2019.584" rid="tbc1d24-dis.REF.finelli.2019.584">Finelli et al 2019</a>]. A knock-in mouse model of the p.Phe251Leu variant [<a class="bibr" href="#tbc1d24-dis.REF.corbett.2010.371" rid="tbc1d24-dis.REF.corbett.2010.371">Corbett et al 2010</a>] showed increased neuronal excitability, spontaneous seizures, and premature death. The heterozygous p.Phe251Leu knock-in mice survive into adulthood but display dendritic spine defects and impaired memory [<a class="bibr" href="#tbc1d24-dis.REF.lin.2020.e1008587" rid="tbc1d24-dis.REF.lin.2020.e1008587">Lin et al 2020</a>]. Mouse models of DFNB (p.Asp70Tyr) and DFNA (p.Ser178Leu) as well as of syndromic forms of deafness (p.His336GlnfsTer12) have been generated. No auditory dysfunction was detected in <i>Tbc1d24</i> mutated mice, although homozygosity for some of the variants caused seizures or early lethality [<a class="bibr" href="#tbc1d24-dis.REF.tona.2020.1122" rid="tbc1d24-dis.REF.tona.2020.1122">Tona et al 2020</a>].</p><p>
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<b>Mechanism of disease causation</b>
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</p><ul><li class="half_rhythm"><div>Autosomal recessive disorders (DOORS syndrome, FIME, EIMFS, PME, EPRPDC, DEE, and DFNB): loss of function</div></li><li class="half_rhythm"><div>Autosomal dominant disorders (DFNA): unknown</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figtbc1d24disTtbc1d24pathogenicvariant"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" title="Table 9. " class="img_link icnblk_img" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="tbc1d24-dis.T.tbc1d24_pathogenic_variant"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object" rid-ob="figobtbc1d24disTtbc1d24pathogenicvariant">Table 9. </a></h4><p class="float-caption no_bottom_margin"><i>TBC1D24</i> Pathogenic Variants Referenced in This <i>GeneReview</i> </p></div></div></div></div><div id="tbc1d24-dis.Chapter_Notes"><h2 id="_tbc1d24-dis_Chapter_Notes_">Chapter Notes</h2><div id="tbc1d24-dis.Author_Notes"><h3>Author Notes</h3><p>The authors would like to thank the patients and family members who take part in the TBC1D24 Foundation and have contributed hugely to our understanding of this disorder.</p></div><div id="tbc1d24-dis.Acknowledgments"><h3>Acknowledgments</h3><p>This work was supported by Current Research 2023 of the Italian Ministry of Health (to RG, SB), Ministry of University and Research (MIUR), National Recovery and Resilience Plan (NRRP), project MNESYS (PE0000006) (to RG, SB), Brain Optical Mapping by Fondazione CARIFI (to RG), and DECODEE, Call Health 2018 of the Tuscany Region (to RG).</p></div><div id="tbc1d24-dis.Author_History"><h3>Author History</h3><p>Simona Balestrini, MD, PhD (2024-present)<br />Philippe M Campeau, MD (2015-present)<br />Renzo Guerrini, MD, FRCP (2024-present)<br />Raoul CM Hennekam, MD, PhD; University of Amsterdam (2015-2024)<br />Davide Mei, MSc (2024-present)<br />Bettina E Mucha, MD; Sainte-Justine Hospital (2015-2024)<br />Sanjay Sisodiya, MD, PhD (2015-present)</p></div><div id="tbc1d24-dis.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>24 October 2024 (gm) Comprehensive update posted live</div></li><li class="half_rhythm"><div>7 December 2017 (ma) Comprehensive update posted live</div></li><li class="half_rhythm"><div>26 February 2015 (me) Review posted live</div></li><li class="half_rhythm"><div>31 July 2014 (pmc) Original submission</div></li></ul></div></div><div id="tbc1d24-dis.References"><h2 id="_tbc1d24-dis_References_">References</h2><div id="tbc1d24-dis.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="tbc1d24-dis.REF.afawi.2013.240">Afawi
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Balestrini S, Campeau PM, Mei D, et al. TBC1D24-Related Disorders. 2015 Feb 26 [Updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/tardbp-als/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/tecpr2-hsan-id/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24relateddisordersi"><div id="tbc1d24-dis.T.tbc1d24related_disorders_i" class="table"><div class="caption"><p><i>TBC1D24</i>-Related Disorders: Included Phenotypes <sup>1</sup></p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_i/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24related_disorders_i_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Autosomal recessive phenotypes</b>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>DOORS syndrome (<i>d</i>eafness, <i>o</i>nychodystrophy, <i>o</i>steodystrophy, mental <i>r</i>etardation, and <i>s</i>eizures)</div></li><li class="half_rhythm"><div>Familial infantile myoclonic epilepsy (FIME)</div></li><li class="half_rhythm"><div>Progressive myoclonic epilepsy (PME)</div></li><li class="half_rhythm"><div>Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC)</div></li><li class="half_rhythm"><div>Developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS)</div></li><li class="half_rhythm"><div>Autosomal recessive nonsyndromic hearing loss (DFNB)</div></li></ul>
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</td></tr><tr><td scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Autosomal dominant phenotype</b>
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</td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autosomal dominant nonsyndromic hearing loss (DFNA)</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">For synonyms and outdated names see <a href="#tbc1d24-dis.Nomenclature">Nomenclature</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.d.1"><p class="no_margin">For other genetic causes of these phenotypes see <a href="#tbc1d24-dis.Differential_Diagnosis">Differential Diagnosis</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTmoleculargenetictesting"><div id="tbc1d24-dis.T.molecular_genetic_testing" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>TBC1D24</i>-Related Disorders</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.molecular_genetic_testing/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.molecular_genetic_testing_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.molecular_genetic_testing_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_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants <sup>2</sup> Identified by Method</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>TBC1D24</i>
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</td><td headers="hd_h_tbc1d24-dis.T.molecular_genetic_testing_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_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>90% <sup>4</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_tbc1d24-dis.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><10% <sup>4, 6</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.1.1"><p class="no_margin">See <a href="/books/NBK274566/?report=reader#tbc1d24-dis.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="tbc1d24-dis.TF.1.2"><p class="no_margin">See <a href="#tbc1d24-dis.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="tbc1d24-dis.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="tbc1d24-dis.TF.1.4"><p class="no_margin">Data derived from the subscription-based professional view of Human Gene Mutation Database [<a class="bibr" href="#tbc1d24-dis.REF.stenson.2020.1197" rid="tbc1d24-dis.REF.stenson.2020.1197">Stenson et al 2020</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="tbc1d24-dis.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="tbc1d24-dis.TF.1.6"><p class="no_margin">A contiguous gene deletion syndrome involving <i>TBC1D24</i>, <i>ATP6V0C</i>, and <i>PDPK1</i> has been reported (see <a href="#tbc1d24-dis.Genetically_Related_Allelic">Genetically Related Disorders</a>).</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTepilepsydeafnessphenotype"><div id="tbc1d24-dis.T.epilepsydeafness_phenotype" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Epilepsy/Deafness Phenotypes in <i>TBC1D24</i>-Related Disorders</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.epilepsydeafness_phenotype/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.epilepsydeafness_phenotype_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Epilepsy/Deafness Phenotype</th><th id="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons w/Phenotype & Identified <i>TBC1D24</i> Pathogenic Variant</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DOORS syndrome</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">9/18 families w/all 5 major features & 1 person of Turkish ancestry <sup>1</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Familial infantile myoclonic epilepsy (FIME)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 3</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive myoclonic epilepsy (PME)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 4</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rolandic epilepsy w/paroxysmal exercise-induced dystonia & writer's cramp (EPRPDC)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 5</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental & epileptic encephalopathy (DEE)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 6</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Epilepsy of infancy w/migrating focal seizures (EIMFS)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 7</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autosomal recessive nonsyndromic hearing loss (DFNB)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 8</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Autosomal dominant nonsyndromic hearing loss (DFNA)</td><td headers="hd_h_tbc1d24-dis.T.epilepsydeafness_phenotype_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare <sup>2, 9</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.2.1"><p class="no_margin"><a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al [2014]</a>. Genetic heterogeneity for DOORS syndrome is likely. Exome analysis in some of these families did not reveal a pathogenic variant [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.atli.2018.1" rid="tbc1d24-dis.REF.atli.2018.1">Atli et al 2018</a>].</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="tbc1d24-dis.TF.2.2"><p class="no_margin">Although a significant proportion of individuals with this phenotype have a genetic etiology, <i>TBC1D24</i> is a rare cause.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="tbc1d24-dis.TF.2.3"><p class="no_margin">Five families reported [<a class="bibr" href="#tbc1d24-dis.REF.corbett.2010.371" rid="tbc1d24-dis.REF.corbett.2010.371">Corbett et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.falace.2010.365" rid="tbc1d24-dis.REF.falace.2010.365">Falace et al 2010</a>, <a class="bibr" href="#tbc1d24-dis.REF.afawi.2013.240" rid="tbc1d24-dis.REF.afawi.2013.240">Afawi et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.poulat.2015.72" rid="tbc1d24-dis.REF.poulat.2015.72">Poulat et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.shao.2022.106923" rid="tbc1d24-dis.REF.shao.2022.106923">Shao et al 2022</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="tbc1d24-dis.TF.2.4"><p class="no_margin">One family and three unrelated individuals [<a class="bibr" href="#tbc1d24-dis.REF.muona.2015.39" rid="tbc1d24-dis.REF.muona.2015.39">Muona et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.wang.2019.26" rid="tbc1d24-dis.REF.wang.2019.26">Wang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>] reported</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="tbc1d24-dis.TF.2.5"><p class="no_margin">Two families and five sporadic cases reported [<a class="bibr" href="#tbc1d24-dis.REF.guerrini.1999.344" rid="tbc1d24-dis.REF.guerrini.1999.344">Guerrini et al 1999</a>, <a class="bibr" href="#tbc1d24-dis.REF.l_thy.2019.2319" rid="tbc1d24-dis.REF.l_thy.2019.2319">Lüthy et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.steel.2020.372" rid="tbc1d24-dis.REF.steel.2020.372">Steel et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.hosseinpour.2023.381" rid="tbc1d24-dis.REF.hosseinpour.2023.381">Hosseinpour et al 2023</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="tbc1d24-dis.TF.2.6"><p class="no_margin">Six families [<a class="bibr" href="#tbc1d24-dis.REF.guven.2013.199" rid="tbc1d24-dis.REF.guven.2013.199">Guven & Tolun 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.lozano.2016.3207" rid="tbc1d24-dis.REF.lozano.2016.3207">Lozano et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.panjan.2021.68" rid="tbc1d24-dis.REF.panjan.2021.68">Panjan et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.lee.2022.107142" rid="tbc1d24-dis.REF.lee.2022.107142">Lee et al 2022</a>] and 21 unrelated individuals reported [<a class="bibr" href="#tbc1d24-dis.REF.appavu.2016.324" rid="tbc1d24-dis.REF.appavu.2016.324">Appavu et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.de_kovel.2016.568" rid="tbc1d24-dis.REF.de_kovel.2016.568">de Kovel et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.hamdan.2017.664" rid="tbc1d24-dis.REF.hamdan.2017.664">Hamdan et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.nakashima.2019.645" rid="tbc1d24-dis.REF.nakashima.2019.645">Nakashima et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.hong.2020.281" rid="tbc1d24-dis.REF.hong.2020.281">Hong et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.salemi.2020.381" rid="tbc1d24-dis.REF.salemi.2020.381">Salemi et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.uzunhan.2020.106080" rid="tbc1d24-dis.REF.uzunhan.2020.106080">Uzunhan & Uyanik 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.chen.2021.1004" rid="tbc1d24-dis.REF.chen.2021.1004">Chen et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhao.2022.4439" rid="tbc1d24-dis.REF.zhao.2022.4439">Zhao et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.jiang.2023.e2269" rid="tbc1d24-dis.REF.jiang.2023.e2269">Jiang et al 2023</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="tbc1d24-dis.TF.2.7"><p class="no_margin">One family and 11 unrelated individuals reported [<a class="bibr" href="#tbc1d24-dis.REF.milh.2013.869" rid="tbc1d24-dis.REF.milh.2013.869">Milh et al 2013</a>, <a class="bibr" href="#tbc1d24-dis.REF.appavu.2016.324" rid="tbc1d24-dis.REF.appavu.2016.324">Appavu et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.fang.2021.106669" rid="tbc1d24-dis.REF.fang.2021.106669">Fang et al 2021</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="tbc1d24-dis.TF.2.8"><p class="no_margin">Autosomal recessive deafness; seven families [<a class="bibr" href="#tbc1d24-dis.REF.rehman.2014.144" rid="tbc1d24-dis.REF.rehman.2014.144">Rehman et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.bakhchane.2015.e0138072" rid="tbc1d24-dis.REF.bakhchane.2015.e0138072">Bakhchane et al 2015</a>, <a class="bibr" href="#tbc1d24-dis.REF.danialfarran.2018.1840" rid="tbc1d24-dis.REF.danialfarran.2018.1840">Danial-Farran et al 2018</a>, <a class="bibr" href="#tbc1d24-dis.REF.tona.2020.1122" rid="tbc1d24-dis.REF.tona.2020.1122">Tona et al 2020</a>] and six unrelated individuals reported [<a class="bibr" href="#tbc1d24-dis.REF.safka_brozkova.2020.548" rid="tbc1d24-dis.REF.safka_brozkova.2020.548">Safka Brozkova et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.xiang.2020.e1539" rid="tbc1d24-dis.REF.xiang.2020.e1539">Xiang et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.reis.2022.1" rid="tbc1d24-dis.REF.reis.2022.1">Reis et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.quaio.2022.921324" rid="tbc1d24-dis.REF.quaio.2022.921324">Quaio et al 2022</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>9. </dt><dd><div id="tbc1d24-dis.TF.2.9"><p class="no_margin">Autosomal dominant deafness; eight families [<a class="bibr" href="#tbc1d24-dis.REF.azaiez.2014.819" rid="tbc1d24-dis.REF.azaiez.2014.819">Azaiez et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2014.814" rid="tbc1d24-dis.REF.zhang.2014.814">Zhang et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.parzefall.2020.585669" rid="tbc1d24-dis.REF.parzefall.2020.585669">Parzefall et al 2020</a>, <a class="bibr" href="#tbc1d24-dis.REF.ozi_b_o.2021.10300" rid="tbc1d24-dis.REF.ozi_b_o.2021.10300">Oziębło et al 2021</a>, <a class="bibr" href="#tbc1d24-dis.REF.quaio.2022.921324" rid="tbc1d24-dis.REF.quaio.2022.921324">Quaio et al 2022</a>, <a class="bibr" href="#tbc1d24-dis.REF.lei.2024.4734" rid="tbc1d24-dis.REF.lei.2024.4734">Lei et al 2024</a>] and one French individual reported [<a class="bibr" href="#tbc1d24-dis.REF.boucher.2020.31278" rid="tbc1d24-dis.REF.boucher.2020.31278">Boucher et al 2020</a>]</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24relateddisordersf"><div id="tbc1d24-dis.T.tbc1d24related_disorders_f" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p><i>TBC1D24</i>-Related Disorders: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_f/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24related_disorders_f_lrgtbl__"><table><thead><tr><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Phenotype</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons w/Feature</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="5" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>DOORS syndrome</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (14/14)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Usually profound, requiring cochlear implants</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Onychodystrophy</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (14/14)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Involves hands & feet</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Osteodystrophy</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (14/14)</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability / developmental delay</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (14/14)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (14/14)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Familial infantile myoclonic epilepsy (FIME)</b>
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|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (22/22)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Usually early onset</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Dysarthria</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">13.6% (3/22)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability / developmental delay</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">68.2% (15/22)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Brain MRI abnormalities</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">18.2% (4/22)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Progressive myoclonic epilepsy (PME)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Action myoclonus</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25% (1/4)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Tonic-clonic seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50% (2/4)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Progressive neurologic decline</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25% (1/4)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Ataxia</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25% (1/4)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="5" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Rolandic epilepsy w/paroxysmal exercise-induced dystonia & writer's cramp (EPRPDC)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (10/10)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rolandic sharp waves & spikes seen on EEG</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Paroxysmal dystonia</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (10/10)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Typically exercise induced</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Fine motor delays, writer's cramp</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (10/10)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Myoclonus</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10% (1/10)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Nystagmus</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10% (1/10)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="5" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Developmental & epileptic encephalopathy (DEE)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (44/44)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability / developmental delay</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (44/44)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Dystonia</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11.4% (5/44)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Brain MRI abnormalities</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">50% (22/44)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Diffuse cerebral & cerebellar atrophy</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15.9% (7/44)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Epilepsy of infancy w/migrating focal seizures (EIMFS)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (13/13)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures move from 1 lobe/hemisphere of brain to another</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Status epilepticus</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (13/13)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Intellectual disability / developmental delay</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100% (13/13)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">15.4% (2/13)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Autosomal recessive nonsyndromic hearing loss (DFNB)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Autosomal dominant nonsyndromic hearing loss (DFNA)</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sensorineural hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_f_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTgeneticdisordersinthed"><div id="tbc1d24-dis.T.genetic_disorders_in_the_d" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Genetic Disorders in the Differential Diagnosis of DOORS Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.genetic_disorders_in_the_d/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.genetic_disorders_in_the_d_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Features of Disorder</th></tr><tr><th headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4" id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/DOORS syndrome</th><th headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4" id="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from DOORS syndrome</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ARID1A</i>
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<br />
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<i>ARID1B</i>
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<br />
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<i>ARID2</i>
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<br />
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<i>DPF2</i>
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<br />
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<i>SMARCA4</i>
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<br />
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<i>SMARCB1</i>
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<br />
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<i>SMARCC2</i>
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<br />
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<i>SMARCE1</i>
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<br />
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<i>SOX4</i>
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<br />
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<i>SOX11</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris syndrome</a> (See also <a href="/books/n/gene/arid1b-dis/?report=reader"><i>ARID1B</i>-Related Disorder</a>.)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD <sup>1</sup></td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ID/DD, aplastic or hypoplastic nails & terminal phalanges, seizures, hearing impairment</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Variably seen: coarse face, generalized hypertrichosis, scoliosis (some), gingival overgrowth (some), & 5th finger hypoplasia</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATP6B1B2</i>
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<br />
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<i>KCNH1</i>
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<br />
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<i>KCNN3</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Zimmermann-Laband syndrome (ZLS) (OMIM <a href="https://omim.org/phenotypicSeries/PS135500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS135500</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Variable ID/DD, seizures in <i>KCNH1-</i>related ZLS, hypoplasia or aplasia of nails & terminal phalanges, hearing loss (some)</div></li><li class="half_rhythm"><div>Seizures have been suspected in 1 person w/<i>KCNN3-</i>related ZLS.</div></li></ul>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Coarse face, hypertrichosis, gingival overgrowth, scoliosis</div></li><li class="half_rhythm"><div>No seizures in persons w/<i>ATP6B1B2-</i>related ZLS</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATP6V1B2</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Deafness-onychodystrophy syndrome (OMIM <a href="https://omim.org/entry/124480" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">124480</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital sensorineural deafness, onychodystrophy</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Dental anomalies (conical, hypoplastic teeth) (some)</div></li><li class="half_rhythm"><div>Absence of ID/DD & seizures</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>KCNH1</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Temple-Baraitser syndrome (OMIM <a href="https://omim.org/entry/611816" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">611816</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD <sup>1</sup></td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe ID/DD, seizures, nail hypoplasia/aplasia limited to 1st rays (thumb, great toe)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Broad & proximally implanted thumbs, long great toes</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MCCC1</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">3-methylcrotonyl-CoA carboxylase 1 deficiency (OMIM <a href="https://omim.org/entry/210200" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">210200</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>2-oxoglutaric aciduria in 1 individual</div></li><li class="half_rhythm"><div>ID/DD, seizures</div></li></ul>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Urinary excretion of 3-hydroxyisovalerate & 3-methylcrotonylglycine</div></li><li class="half_rhythm"><div>Metabolic decompensation</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>OGDH</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2-ketoglutarate dehydrogenase deficiency (OMIM <a href="https://omim.org/entry/203740" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">203740</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>↑ 2-oxoglutaric acid</div></li><li class="half_rhythm"><div>ID/DD, movement disorder</div></li></ul>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive neurodegenerative disorder; development initially normal</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PIGV &</i> other GPI-biosynthesis genes</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mabry syndrome (OMIM <a href="https://omim.org/phenotypicSeries/PS239300" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS239300</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe ID/DD, seizures, short terminal phalanges, & nail hypoplasia</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Hyperphosphatasia</div></li><li class="half_rhythm"><div>Absence of deafness</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SLC25A1</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Combined D-2- & L-2-hydroxyglutaric aciduria (OMIM <a href="https://omim.org/entry/615182" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615182</a>)</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>↑ 2-oxoglutaric acid</div></li><li class="half_rhythm"><div>Severe DD, seizures</div></li></ul>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>↑ D-2- & L-2-hydroxyglutaric acid</div></li><li class="half_rhythm"><div>Severe neonatal encephalopathy w/early death</div></li><li class="half_rhythm"><div>No skeletal manifestations</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SMARCA2</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/nbs/?report=reader">Nicolaides-Baraitser syndrome</a>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD <sup>1</sup></td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe ID/DD, seizures</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Coarse face, prominent finger joints & broad distal phalanges, scoliosis (some)</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>UBE3B</i>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/kos/?report=reader">Kaufman oculocerebrofacial syndrome</a>
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</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ID/DD, hearing loss (some), microcephaly, nail dysplasia, hearing impairment</td><td headers="hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_1_4 hd_h_tbc1d24-dis.T.genetic_disorders_in_the_d_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Absence of 2-oxoglutaric aciduria</div></li><li class="half_rhythm"><div>Blepharophimosis</div></li><li class="half_rhythm"><div>Hypoplastic/absent terminal phalanges rarely seen</div></li></ul>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.4.1"><p class="no_margin">Pathogenic variants are typically <i>de novo</i>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTdisorderstoconsiderint"><div id="tbc1d24-dis.T.disorders_to_consider_in_t" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Disorders to Consider in the Differential Diagnosis of FIME and PME</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.disorders_to_consider_in_t/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.disorders_to_consider_in_t_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Features of Disorder</th></tr><tr><th headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4" id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/FIME/PME</th><th headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4" id="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from FIME/PME</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Multiple genes incl:<br /><i>CLN3</i><br /><i>CLN5</i><br /><i>CLN6</i><br /><i>CLN8</i><br /><i>CTSD</i><br /><i>KCDT7</i><br /><i>MFSD8</i><br /><i>PPT1</i><br /><i>TPP1</i></td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuronal ceroid lipofuscinoses (OMIM <a href="https://omim.org/phenotypicSeries/PS256730" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PS256730</a>)</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR <sup>1</sup></td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, seizures</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive intellectual & motor deterioration w/vision loss</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CSTB</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/epm1/?report=reader">Progressive myoclonic epilepsy type 1</a> (Unverricht-Lundborg Disease)</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Generalized tonic-clonic seizures, myoclonic seizures</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">No or mild decline in intellectual performance, EEG always abnormal, later onset</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>EPM2A</i>
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<br />
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<i>NHLRC1</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/lafora/?report=reader">Progressive myoclonus epilepsy, Lafora type</a>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Generalized myoclonus &/or generalized tonic-clonic seizures</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive neurologic degeneration in previously healthy adolescents; Lafora bodies</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MT-TF</i>
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<br />
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<i>MT-TH</i>
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<br />
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<i>MT-TI</i>
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<br />
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<i>MT-TK</i>
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<br />
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<i>MT-TL1</i>
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<br />
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<i>MT-TP</i>
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<br />
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<i>MT-TS1</i>
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<br />
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<i>MT-TS2</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mat</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, generalized epilepsy, hearing loss, ataxia</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal early development, ragged-red fibers on muscle biopsy, lactic acidosis, cardiomyopathy (some)</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>POLG</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/alpers/?report=reader"><i>POLG</i>-related disorders</a>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, seizures, ataxia</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variable phenotype; may incl ophthalmoplegia, neuropathy, liver dysfunction</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PRICKLE1</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PRICKLE1</i>-related progressive myoclonus epilepsy w/ataxia (See <a href="/books/n/gene/me-ataxia/?report=reader"><i>PRICKLE1</i>-Related Disorders</a>.)</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic seizures, generalized convulsive seizures, ataxia</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal intellect</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SCARB2</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/amrf/?report=reader"><i>SCARB2</i>-related action myoclonus – renal failure syndrome</a>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive myoclonic epilepsy</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Onset in late teens or early 20s w/tremors, proteinuria, & development of kidney failure possible</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SCN1A</i>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/gefs/?report=reader"><i>SCN1A</i> seizure disorders</a>
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</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic epilepsy, generalized tonic-clonic/hemiclonic & focal seizures</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">No hearing loss</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SLC25A22</i>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental & epileptic encephalopathy 3 (OMIM <a href="https://omim.org/entry/609304" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">609304</a>)</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic refractory seizures, early onset</td><td headers="hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_1_4 hd_h_tbc1d24-dis.T.disorders_to_consider_in_t_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Burst suppression on EEG, abnormal visual evoked potentials, spasticity</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; Mat = maternal; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.5.1"><p class="no_margin">Neuronal ceroid-lipofuscinosis (NCL) is inherited in an autosomal recessive manner with the exception of <i>DNAJC5</i>-related NCL (OMIM <a href="https://omim.org/entry/162350" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">162350</a>) which is inherited in an autosomal dominant manner.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24relateddisordersr"><div id="tbc1d24-dis.T.tbc1d24related_disorders_r" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p><i>TBC1D24</i>-Related Disorders: Recommended Evaluations Following Initial Diagnosis</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24related_disorders_r_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Neurologic</b>
|
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic eval to assess for risk of epilepsy</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>EEG to assess overall degree & types of seizures</div></li><li class="half_rhythm"><div>Baseline brain MRI</div></li></ul>
|
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Clinical neurologic eval</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Neurologic exam to assess if a movement disorder or other neurologic involvement (e.g., dysarthria nystagmus, peripheral neuropathy) is present</div></li><li class="half_rhythm"><div>Head circumference to establish presence of microcephaly & assess whether other cranial abnormalities are present</div></li></ul>
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</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Neuropsychological eval to assess for neurodevelopmental delay &/or degree of ID</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Audiologic</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Audiologic eval for hearing loss</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Ophthalmologic</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmology eval to assess visual function</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Cardiac</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cardiac eval to assess for congenital heart defects & arrhythmia</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider echocardiogram & EKG</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Renal</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nephrology eval to assess for renal & urinary tract anomalies (e.g., hydronephrosis, nephrocalcinosis)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider renal ultrasound</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Dental</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dental eval to assess for dental anomalies (e.g., delayed eruption, wide spacing, & abnormal shape, size, & number)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Endocrine</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Endocrine eval for thyroid function</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Orthopedic</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Orthopedic eval to assess for skeletal anomalies</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Dermatologic</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dermatologic assessment for nail abnormalities</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic counseling</b>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of <i>TBC1D24-</i>related disorders to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
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<br />
|
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<b>& resources</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By clinicians, wider care team, & family support organizations</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of family & social structure to determine need for:
|
|
<ul><li class="half_rhythm"><div>Community or <a href="#tbc1d24-dis.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a></div></li><li class="half_rhythm"><div>Social work involvement for parental support</div></li><li class="half_rhythm"><div>Home nursing referral</div></li></ul>
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|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">ID = intellectual disability; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.6.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24relateddisorderst"><div id="tbc1d24-dis.T.tbc1d24related_disorders_t" class="table"><h3><span class="label">Table 7. </span></h3><div class="caption"><p><i>TBC1D24</i>-Related Disorders: Treatment of Manifestations</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_t/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24related_disorders_t_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Epilepsy</b>
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|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standardized treatment w/ASM by experienced neurologist based on clinical & EEG epilepsy phenotype</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Many ASMs may be effective; none have been demonstrated to be effective specifically for this disorder. <sup>1</sup> Acetazolamide, flunarizine, valproate, & levetiracetam have been reported as ineffective.</div></li><li class="half_rhythm"><div>Education of parents/caregivers <sup>2</sup></div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Other neurologic manifestations</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment for tremors, dystonic attacks, & other manifestations</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In persons w/<i>TBC1D24</i>-related EPRPDC:
|
|
<ul><li class="half_rhythm"><div>Adults can still exhibit mild nystagmus & postural tremor of the hands. Trihexyphenidyl can be effective as an anti-tremor drug.</div></li><li class="half_rhythm"><div>Treatment w/carbidopa/levodopa, lamotrigine, & benzodiazepines can be effective for treatment of dystonic attacks or seizures.</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Deafness</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider hearing aids or cochlear implants as needed for hearing loss (See <a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>.)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cochlear implants at age 1 year have been beneficial in persons w/DOORS syndrome. <sup>3</sup></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Vision issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment by ophthalmologist</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Cardiac issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment by cardiologist</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Renal anomalies</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment by nephrologist</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Endocrine issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment by endocrinologist</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Dental issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard dental treatment</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Orthopedic issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard orthopedic treatment</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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|
<b>Developmental delay /</b>
|
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<br />
|
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<b>Intellectual disability</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See <a href="#tbc1d24-dis.Developmental_Delay__Intelle">Developmental Delay / Intellectual Disability Management</a> Issues.</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family/Community</b>
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|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ensure appropriate social work involvement to connect families w/local resources, respite, & support.</div></li><li class="half_rhythm"><div>Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.</div></li></ul>
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|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_t_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ongoing assessment of need for palliative care involvement &/or home nursing</div></li><li class="half_rhythm"><div>Consider involvement in adaptive sports or <a href="https://www.specialolympics.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Special Olympics</a>.</div></li></ul>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">ASM = anti-seizure medication; EPRPDC = rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="tbc1d24-dis.TF.7.1"><p class="no_margin">
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<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al [2016]</a>
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</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="tbc1d24-dis.TF.7.2"><p class="no_margin">Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see <a href="https://www.epilepsy.com/sites/core/files/atoms/files/English_Toolkit_updated%202014.pdf" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epilepsy & My Child Toolkit</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="tbc1d24-dis.TF.7.3"><p class="no_margin">
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<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al [2014]</a>
|
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</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24relateddisordersr1"><div id="tbc1d24-dis.T.tbc1d24related_disorders_r_1" class="table"><h3><span class="label">Table 8. </span></h3><div class="caption"><p><i>TBC1D24</i>-Related Disorders: Recommended Surveillance</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24related_disorders_r_1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24related_disorders_r_1_lrgtbl__"><table><thead><tr><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_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_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Neurologic</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Monitor those w/seizures as clinically indicated, w/repeat EEGs as indicated depending on seizure frequency &/or progression.</div></li><li class="half_rhythm"><div>Assess for new manifestations such as seizures or any other neurologic features.</div></li></ul>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>At each visit</div></li><li class="half_rhythm"><div>Persons w/epilepsy, irrespective of cause, should have periodic EEGs.</div></li><li class="half_rhythm"><div>Consider repeat neuroimaging in case of new symptoms or clinical deterioration.</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Hearing loss</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for any hearing issues, possible progression of hearing loss, &/or efficacy of hearing aids</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annual audiologic eval</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Dental issues</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for dental anomalies (e.g., delayed eruption, wide spacing, & abnormal shape, size, & number)</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annual dental eval</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Endocrine function</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor for thyroid dysfunction.</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Development</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Monitor developmental progress & educational needs.</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Family/Community</b>
|
|
</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24related_disorders_r_1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobtbc1d24dismolgenTA"><div id="tbc1d24-dis.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>TBC1D24-Related Disorders: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_tbc1d24-dis.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_tbc1d24-dis.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
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<a href="/gene/57465" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>TBC1D24</i>
|
|
</a>
|
|
</td><td headers="hd_b_tbc1d24-dis.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=57465" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">16p13<wbr style="display:inline-block"></wbr>​.3</a>
|
|
</td><td headers="hd_b_tbc1d24-dis.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.uniprot.org/uniprot/Q9ULP9" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TBC1 domain family member 24</a>
|
|
</td><td headers="hd_b_tbc1d24-dis.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.LOVD.nl/TBC1D24" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TBC1D24 @ LOVD</a>
|
|
</td><td headers="hd_b_tbc1d24-dis.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TBC1D24" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TBC1D24</a>
|
|
</td><td headers="hd_b_tbc1d24-dis.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=TBC1D24[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TBC1D24</a>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="tbc1d24-dis.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
|
|
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
|
chromosome locus 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/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobtbc1d24dismolgenTB"><div id="tbc1d24-dis.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for TBC1D24-Related Disorders (<a href="/omim/220500,605021,608105,613577,614617,615338,616044" 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/NBK274566/table/tbc1d24-dis.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<a href="/omim/220500" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">220500</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<a href="/omim/605021" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">605021</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/608105" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">608105</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER''''S CRAMP; EPRPDC</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<a href="/omim/613577" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">613577</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<a href="/omim/614617" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">614617</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<a href="/omim/615338" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">615338</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/616044" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">616044</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobtbc1d24disTtbc1d24pathogenicvariant"><div id="tbc1d24-dis.T.tbc1d24_pathogenic_variant" class="table"><h3><span class="label">Table 9. </span></h3><div class="caption"><p><i>TBC1D24</i> Pathogenic Variants Referenced in This <i>GeneReview</i></p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK274566/table/tbc1d24-dis.T.tbc1d24_pathogenic_variant/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__tbc1d24-dis.T.tbc1d24_pathogenic_variant_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment [Reference]</th></tr></thead><tbody><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001199107.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001199107<wbr style="display:inline-block"></wbr>​.2</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001186036.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001186036<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.116C>T</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala39Val</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Identified in persons w/alternating hemiplegia of childhood & epilepsia partialis continua [<a class="bibr" href="#tbc1d24-dis.REF.ragona.2017.71" rid="tbc1d24-dis.REF.ragona.2017.71">Ragona et al 2017</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>]</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.619C>T</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gln207Term</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Identified in persons w/EIMFS, infantile myoclonic epilepsy, generalized epilepsy, DOORS syndrome, & parkinsonism [<a class="bibr" href="#tbc1d24-dis.REF.balestrini.2016.77" rid="tbc1d24-dis.REF.balestrini.2016.77">Balestrini et al 2016</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>]</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.641G>A</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg214His</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Variants identified in <i>trans</i> in a Pakistani family in whom affected persons exhibited either a deafness-seizure syndrome or nonsyndromic deafness [<a class="bibr" href="#tbc1d24-dis.REF.tona.2020.1122" rid="tbc1d24-dis.REF.tona.2020.1122">Tona et al 2020</a>]</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001199107.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001199107<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.965+1G>A</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001199107.2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001199107<wbr style="display:inline-block"></wbr>​.2</a>
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001186036.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001186036<wbr style="display:inline-block"></wbr>​.1</a>
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</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1008delT</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.His336GlnfsTer12</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Identified in compound heterozygous persons w/DOORS syndrome & one sib pair w/DEE & early death [<a class="bibr" href="#tbc1d24-dis.REF.campeau.2014.44" rid="tbc1d24-dis.REF.campeau.2014.44">Campeau et al 2014</a>, <a class="bibr" href="#tbc1d24-dis.REF.stra_i_ar.2015.251" rid="tbc1d24-dis.REF.stra_i_ar.2015.251">Stražišar et al 2015</a>]</td></tr><tr><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1499C>T</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala500Val</td><td headers="hd_h_tbc1d24-dis.T.tbc1d24_pathogenic_variant_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent variant in persons w/EIMFS, infantile myoclonic epilepsy, NCSE, & cerebellar ataxia & ophthalmoplegia [<a class="bibr" href="#tbc1d24-dis.REF.li.2018.623" rid="tbc1d24-dis.REF.li.2018.623">Li et al 2018</a>, <a class="bibr" href="#tbc1d24-dis.REF.burgess.2019.821" rid="tbc1d24-dis.REF.burgess.2019.821">Burgess et al 2019</a>, <a class="bibr" href="#tbc1d24-dis.REF.zhang.2019.228" rid="tbc1d24-dis.REF.zhang.2019.228">Zhang et al 2019</a>]</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">EIMFS = epilepsy of infancy with migrating focal seizures; NCSE = non-convulsive status epilepticus</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>​.hgvs.org</a>). See <a href="/books/n/gene/app3/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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