{"id":1375,"date":"2026-06-14T20:28:33","date_gmt":"2026-06-14T20:28:33","guid":{"rendered":"https:\/\/curetaok1.org\/?page_id=1375"},"modified":"2026-08-14T12:30:10","modified_gmt":"2026-08-14T12:30:10","slug":"what-is-taok1","status":"publish","type":"page","link":"https:\/\/curetaok1.org\/?page_id=1375","title":{"rendered":"What is TAOK1?"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"1375\" class=\"elementor elementor-1375\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4d1722d e-flex e-con-boxed e-con e-parent\" data-id=\"4d1722d\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4cdd7bc elementor-widget elementor-widget-text-editor\" data-id=\"4cdd7bc\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"3:1-3:12;18-29\">In brief<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"5:1-5:432;31-462\">TAOK1 is a gene located on chromosome 17 that carries the &#8220;instructions&#8221; for making a protein called TAO1 kinase &#8211; an enzyme essential for normal brain development. When a pathogenic variant (change) occurs in one of the two copies of this gene, the protein does not work as it should. The result is <strong>TAOK1-associated neurodevelopmental disorder<\/strong> (TAOK1-NDD for short), listed in the OMIM classification under number <strong>#619575<\/strong>.<\/p>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"7:1-7:384;464-847\">It is a very rare genetic condition &#8211; the first cases were scientifically described only in 2019, and the total number of patients documented in the medical literature to date is fewer than one hundred people worldwide. The true number of people with TAOK1-NDD is almost certainly higher, because the diagnosis requires advanced genetic testing that is still not performed routinely.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"11:1-11:43;854-896\">The TAOK1 gene and its role in the body<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"13:1-13:371;898-1268\">Each of us has two copies of the TAOK1 gene &#8211; one from each parent. The gene encodes a protein belonging to a group of enzymes called <strong>serine\/threonine kinases<\/strong> from the TAO kinase family (<em>Thousand And One amino acid kinase<\/em> &#8211; the name comes from the length of the protein, which is 1,001 amino acids). Two related proteins belong to the same family: TAOK2 and TAOK3.<\/p>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"15:1-15:92;1270-1361\">TAO1 kinase performs several key functions in cells. Scientific research has shown that it:<\/p>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"17:1-21:78;1363-2207\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"17:1-17:182;1363-1544\"><strong>regulates the cell&#8217;s cytoskeleton<\/strong>, including microtubules &#8211; the internal &#8220;scaffolding&#8221; along which substances are transported inside neurons and which gives cells their shape;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"18:1-18:168;1545-1712\"><strong>acts in the MAPK signaling cascade<\/strong> &#8211; one of the most important signal transduction pathways in the cell, regulating growth, maturation, and responses to stimuli;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"19:1-19:251;1713-1963\"><strong>is essential for the proper migration of neurons<\/strong> during development of the cerebral cortex &#8211; in mouse studies, silencing the Taok1 gene during the fetal period caused serious disruptions in the journey of neurons to the correct cortical layers;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"20:1-20:166;1964-2129\"><strong>participates in neuronal maturation<\/strong> and the development of the dendritic tree, i.e., the branches through which neurons receive signals from other nerve cells;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"21:1-21:78;2130-2207\">plays a role in maintaining <strong>chromosomal stability<\/strong> during cell division.<\/li>\n<\/ul>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"23:1-23:162;2209-2370\">Put simply: TAOK1 is one of the &#8220;construction engineers&#8221; of the developing brain. It helps neurons reach the right place, mature, and connect with other neurons.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"27:1-27:59;2377-2435\">What happens when the TAOK1 gene doesn&#8217;t work properly?<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"29:1-29:142;2437-2578\">In people with TAOK1-NDD, one of the two copies of the gene contains a pathogenic variant. Various types of such changes have been described:<\/p>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"31:1-33:50;2580-3168\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"31:1-31:289;2580-2868\"><strong>protein-truncating variants<\/strong> (nonsense, frameshift, or splice-affecting variants) &#8211; these mean that no functional protein is produced from the damaged copy of the gene; the cell is then left with only half the normal amount of TAO1 kinase (a mechanism called <strong>haploinsufficiency<\/strong>);<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"32:1-32:250;2869-3118\"><strong>missense variants<\/strong> &#8211; a change of a single amino acid in the protein; in the largest published study, most such variants clustered in the protein&#8217;s <strong>kinase domain<\/strong> &#8211; its enzymatic &#8220;engine&#8221; &#8211; at sites that are particularly intolerant to change;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"33:1-33:50;3119-3168\"><strong>deletions<\/strong> covering part or all of the gene.<\/li>\n<\/ul>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"35:1-35:172;3170-3341\">Laboratory studies have shown that TAO1 kinase activity must be precisely controlled &#8211; both its deficiency and its dysregulation disrupt the normal functioning of neurons.<\/p>\n<h3 class=\"mt-2 -mb-1 text-base font-bold\" dir=\"ltr\" data-sourcepos=\"37:1-37:50;3343-3392\">Where does the variant come from? Inheritance<\/h3>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"39:1-39:297;3394-3690\">In most described cases, the variant in the TAOK1 gene arose <strong>de novo<\/strong> &#8211; that is, as a new, spontaneous change that appeared in a reproductive cell of one of the parents or at a very early stage of embryonic development. <strong>It is no one&#8217;s fault<\/strong> &#8211; such changes cannot be predicted or prevented.<\/p>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"41:1-41:486;3692-4177\">However, cases of the variant being <strong>inherited<\/strong> from a parent have also been described. In 2022, the first sibling pair was documented who inherited a TAOK1 variant from a mother with very mild symptoms (minor learning difficulties). This means that TAOK1-NDD shows <strong>incomplete penetrance and variable expressivity<\/strong> &#8211; the same genetic change can produce symptoms of very different severity in different people, even within one family, ranging from barely noticeable to significant.<\/p>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"43:1-43:244;4179-4422\">The disorder is inherited in an <strong>autosomal dominant<\/strong> manner &#8211; a variant in one copy of the gene is enough. A person carrying the variant has a 50% chance of passing it on to each child. Families are always advised to seek genetic counseling.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"47:1-47:31;4429-4459\">How does TAOK1-NDD present?<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"49:1-49:380;4461-4840\">The clinical picture is highly variable \u2014 from mild learning difficulties to significant intellectual disability. The data below come primarily from the largest study published to date (Elkhateeb et al., <em>Genetics in Medicine<\/em>, 2025), which included 50 individuals with TAOK1 variants, as well as from earlier publications describing a total of several dozen additional patients.<\/p>\n<h3 class=\"mt-2 -mb-1 text-base font-bold\" dir=\"ltr\" data-sourcepos=\"51:1-51:42;4842-4883\">Development and cognitive functioning<\/h3>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"53:1-55:248;4885-5735\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"53:1-53:328;4885-5212\"><strong>Neurodevelopmental abnormalities occurred in 100% of described patients<\/strong> &#8211; this is the core feature of the condition. In various combinations, they include: delayed motor development, delayed speech and language development, learning difficulties, and intellectual disability ranging in severity from borderline to severe.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"54:1-54:275;5213-5487\">A characteristic observation is that many children <strong>catch up on motor developmental milestones over time<\/strong> (sitting, walking), while <strong>speech and language difficulties persist longer<\/strong> &#8211; in studies, they were found in the majority of children assessed after the age of 3.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"55:1-55:248;5488-5735\">In some individuals, <strong>autism spectrum disorder or autistic traits<\/strong> have been described (approx. 31% in the 2025 cohort), as well as <strong>ADHD<\/strong> and other behavioral difficulties, and in isolated individuals anxiety, depressive, or mood disorders.<\/li>\n<\/ul>\n<h3 class=\"mt-2 -mb-1 text-base font-bold\" dir=\"ltr\" data-sourcepos=\"57:1-57:39;5737-5775\">Physical and neurological features<\/h3>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"59:1-67:108;5777-7332\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"59:1-59:173;5777-5949\"><strong>Macrocephaly<\/strong> (head circumference more than 2 standard deviations above the mean) &#8211; found in <strong>83%<\/strong> of patients in the 2025 cohort; present at birth in some children.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"60:1-60:145;5950-6094\"><strong>Hypotonia<\/strong> (reduced muscle tone) &#8211; in <strong>58%<\/strong> of patients; often noticeable already in infancy and potentially affecting motor development.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"61:1-61:202;6095-6296\"><strong>Feeding difficulties in the neonatal period and infancy<\/strong> &#8211; one of the most frequently recurring early symptoms; gastroesophageal reflux and other gastrointestinal problems have also been reported.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"62:1-62:101;6297-6397\"><strong>Joint hypermobility (laxity)<\/strong> &#8211; common; it may co-occur with hypotonia and affect motor skills.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"63:1-63:176;6398-6573\"><strong>Subtle, shared facial features<\/strong> &#8211; including frontal bossing, downslanting palpebral fissures, a long philtrum, and a bulbous nasal tip. These features are usually subtle.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"64:1-64:177;6574-6750\"><strong>Epileptic seizures are rare<\/strong> &#8211; in the 2025 cohort of 50 patients, they were reported in 4 individuals (one of whom had a second genetic diagnosis explaining the epilepsy).<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"65:1-65:282;6751-7032\">Brain imaging (MRI) revealed abnormalities in some patients &#8211; most commonly <strong>enlargement of the ventricular system (ventriculomegaly)<\/strong>; less commonly, abnormalities of the corpus callosum, white matter, or cerebellum, among others. In many individuals, brain imaging is normal.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"66:1-66:192;7033-7224\"><strong>Growth abnormalities<\/strong> have also been described, and the most recent study reported <strong>episodes of hypoglycemia<\/strong> and <strong>genital anomalies in boys<\/strong> as new elements of the clinical picture.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"67:1-67:108;7225-7332\">Heart defects and stereotypical hand movements have been reported less frequently (in isolated patients).<\/li>\n<\/ul>\n<blockquote class=\"ml-2 border-l-4 border-[hsl(var(--border-300)\/0.1)] pl-4 text-text-300\" data-sourcepos=\"69:1-69:335;7334-7668\">\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"69:3-69:335;7336-7668\"><strong>Important:<\/strong> no person with TAOK1-NDD has all of the symptoms listed above. The severity of the condition varies greatly \u2014 even among members of the same family with an identical variant. The list above describes the spectrum of what has been observed in the scientific literature so far, not a prognosis for any particular child.<\/p>\n<\/blockquote>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"73:1-73:30;7675-7704\"><br \/>How is the diagnosis made?<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"75:1-75:245;7706-7950\">The symptoms of TAOK1-NDD (developmental delay, hypotonia, feeding difficulties) are non-specific &#8211; they occur in hundreds of different genetic disorders. For this reason, the diagnosis cannot be made on the basis of the clinical picture alone.<\/p>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"77:1-77:65;7952-8016\">The diagnosis is made using <strong>next-generation genetic testing<\/strong>:<\/p>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"79:1-81:203;8018-8522\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"79:1-79:149;8018-8166\"><strong>exome sequencing (WES)<\/strong> or <strong>whole-genome sequencing (WGS)<\/strong> &#8211; it is these methods that led to the identification of nearly all known patients;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"80:1-80:153;8167-8319\">ideally as a <strong>trio test<\/strong> (child + both parents), which makes it possible to establish right away whether the variant arose de novo or was inherited;<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"81:1-81:203;8320-8522\">detected variants are classified according to international criteria and submitted to databases such as <strong>ClinVar<\/strong>, which helps other families and clinicians around the world interpret their results.<\/li>\n<\/ul>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"83:1-83:244;8524-8767\">Because cases inherited from mildly affected parents have been described, once a variant is detected in a child, <strong>testing of the parents<\/strong> is also recommended &#8211; this matters for genetic counseling and for assessing risk in future pregnancies.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"87:1-87:29;8774-8802\">Can TAOK1-NDD be treated?<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"89:1-89:216;8804-9019\">At present, <strong>there is no causal treatment<\/strong> &#8211; no therapy yet repairs the effects of a variant in the TAOK1 gene. Patient care is <strong>symptomatic and multidisciplinary<\/strong>, tailored to individual needs, and may include:<\/p>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"91:1-96:107;9021-9748\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"91:1-91:102;9021-9122\">early developmental intervention and regular <strong>physical therapy<\/strong> (for hypotonia and joint laxity),<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"92:1-92:181;9123-9303\"><strong>speech and language therapy<\/strong> and alternative\/augmentative communication methods \u2014 particularly important, because language difficulties are among the most persistent symptoms,<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"93:1-93:96;9304-9399\"><strong>feeding support<\/strong> in early life and gastroenterological care for gastrointestinal problems,<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"94:1-94:109;9400-9508\"><strong>neurological care<\/strong> (including treatment of epilepsy, if present) and periodic developmental assessment,<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"95:1-95:133;9509-9641\"><strong>psychological and educational support<\/strong>, and therapy targeting autism spectrum disorder or ADHD where these have been diagnosed,<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"96:1-96:107;9642-9748\">consultations with other specialists depending on symptoms (cardiologist, endocrinologist, orthopedist).<\/li>\n<\/ul>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"98:1-98:348;9750-10097\">The good news is that knowledge about TAOK1 is growing very quickly. Advances in genetic medicine &#8211; including research into gene therapies for rare neurodevelopmental disorders &#8211; provide real grounds for hope that treatments targeting the cause of the condition will emerge in the future. Bringing that day closer is the mission of our foundation.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"102:1-102:32;10104-10135\">A brief history of discovery<\/h2>\n<ul class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-disc flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"104:1-107:261;10137-11180\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"104:1-104:220;10137-10356\"><strong>2019<\/strong> &#8211; the team of Dulovic-Mahlow et al. describes the first 8 patients with de novo TAOK1 variants and neurodevelopmental disorders, identifying TAOK1 as a new disease gene (<em>American Journal of Human Genetics<\/em>).<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"105:1-105:303;10357-10659\"><strong>2021<\/strong> &#8211; the international study by van Woerden et al. (<em>Human Mutation<\/em>) confirms the causal link, defines the core phenotype, and demonstrates in animal models that TAOK1 is essential for neuronal maturation and cortical development. The disorder receives an OMIM classification number (<code class=\"bg-text-200\/5 border border-0.5 border-border-300 text-danger-000 whitespace-pre-wrap rounded-[0.4rem] px-1 py-px text-[0.9rem] inline-flex items-center h-5\">#619575<\/code>).<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"106:1-106:260;10660-10919\"><strong>2022<\/strong> &#8211; Hunter et al. (<em>Cold Spring Harbor Molecular Case Studies<\/em>) describe the first familial cases, including siblings with a variant inherited from a mildly affected mother, documenting the condition&#8217;s incomplete penetrance and variable expressivity.<\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"107:1-107:261;10920-11180\"><strong>2025<\/strong> &#8211; Elkhateeb et al. publish in <em>Genetics in Medicine<\/em> the largest cohort to date: 50 patients and 37 unique variants (including 30 novel ones). The study refines the frequency of individual symptoms and expands the clinical picture with new elements.<\/li>\n<\/ul>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"109:1-109:113;11182-11294\">This history shows what a young disease entity TAOK1-NDD is &#8211; and how much may still happen in the coming years.<br \/><br \/><\/p>\n<h2 class=\"mt-3 -mb-1 text-[1.125rem] font-bold\" dir=\"ltr\" data-sourcepos=\"113:1-113:11;11301-11311\">Sources<\/h2>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"115:1-115:109;11313-11421\">All information on this page comes from peer-reviewed scientific publications and curated genetic databases:<\/p>\n<ol class=\"[li_&amp;]:mb-0 [li_&amp;]:mt-1 [li_&amp;]:gap-1 [&amp;:not(:last-child)_ul]:pb-1 [&amp;:not(:last-child)_ol]:pb-1 list-decimal flex flex-col gap-1 pl-8 mb-3 print:block print:space-y-1\" dir=\"ltr\" data-sourcepos=\"117:1-123:253;11423-12849\">\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"117:1-117:259;11423-11681\">Elkhateeb N. et al. <em>Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.<\/em> Genetics in Medicine, 2025;27(3). <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00282-X\/fulltext\">https:\/\/www.gimjournal.org\/article\/S1098-3600(24)00282-X\/fulltext<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"118:1-118:234;11682-11915\">van Woerden G.M. et al. <em>TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.<\/em> Human Mutation, 2021;42(4). <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.24176\">https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.24176<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"119:1-119:227;11916-12142\">Hunter J.M. et al. <em>Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.<\/em> Cold Spring Harbor Molecular Case Studies, 2022;8(2). <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8958914\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8958914<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"120:1-120:202;12143-12344\">Dulovic-Mahlow M. et al. <em>De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.<\/em> American Journal of Human Genetics, 2019. <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929719301910\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929719301910<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"121:1-121:144;12345-12488\">OMIM <code class=\"bg-text-200\/5 border border-0.5 border-border-300 text-danger-000 whitespace-pre-wrap rounded-[0.4rem] px-1 py-px text-[0.9rem] inline-flex items-center h-5\">#619575<\/code> \u2014 Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB). <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/omim.org\/entry\/619575\">https:\/\/omim.org\/entry\/619575<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"122:1-122:108;12489-12596\">ClinGen \u2014 TAOK1 dosage sensitivity curation. <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/HGNC:29259\">https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/HGNC:29259<\/a><\/li>\n<li class=\"font-claude-response-body whitespace-normal break-words pl-2\" data-sourcepos=\"123:1-123:253;12597-12849\">Unique \u2014 Rare Chromosome Disorder Support Group: <em>TAOK1-related neurodevelopmental disorder<\/em> (family guide, 2025). <a class=\"underline underline underline-offset-2 decoration-1 decoration-current\/40 hover:decoration-current focus:decoration-current\" href=\"https:\/\/rarechromo.org\/media\/singlegeneinfo\/Single%20Gene%20Disorder%20Guides\/TAOK1-related%20neurodevelopmental%20disorder%20FTNW.pdf\">https:\/\/rarechromo.org\/media\/singlegeneinfo\/Single%20Gene%20Disorder%20Guides\/TAOK1-related%20neurodevelopmental%20disorder%20FTNW.pdf<\/a><\/li>\n<\/ol>\n<p class=\"font-claude-response-body break-words whitespace-normal\" dir=\"ltr\" data-sourcepos=\"125:1-125:114;12851-12964\"><span style=\"text-decoration: underline;\"><strong>This content is for informational purposes only and does not replace medical advice. Last updated: August 2026.<\/strong><\/span><\/p>\n<p><!-- \/wp:list-item --><\/p>\n<p><!-- \/wp:list --><!-- wp:paragraph --><\/p>\n<p><!-- \/wp:paragraph --><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>In brief TAOK1 is a gene located on chromosome 17 that carries the &#8220;instructions&#8221; for making a protein called TAO1 kinase &#8211; an enzyme essential for normal brain development. When a pathogenic variant (change) occurs in one of the two copies of this gene, the protein does not work as it should. The result is [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":34,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"elementor_theme","meta":{"give_campaign_id":0,"_angie_page":false,"ocean_post_layout":"","ocean_both_sidebars_style":"","ocean_both_sidebars_content_width":0,"ocean_both_sidebars_sidebars_width":0,"ocean_sidebar":"","ocean_second_sidebar":"","ocean_disable_margins":"enable","ocean_add_body_class":"","ocean_shortcode_before_top_bar":"","ocean_shortcode_after_top_bar":"","ocean_shortcode_before_header":"","ocean_shortcode_after_header":"","ocean_has_shortcode":"","ocean_shortcode_after_title":"","ocean_shortcode_before_footer_widgets":"","ocean_shortcode_after_footer_widgets":"","ocean_shortcode_before_footer_bottom":"","ocean_shortcode_after_footer_bottom":"","ocean_display_top_bar":"default","ocean_display_header":"default","ocean_header_style":"","ocean_center_header_left_menu":"","ocean_custom_header_template":"","ocean_custom_logo":0,"ocean_custom_retina_logo":0,"ocean_custom_logo_max_width":0,"ocean_custom_logo_tablet_max_width":0,"ocean_custom_logo_mobile_max_width":0,"ocean_custom_logo_max_height":0,"ocean_custom_logo_tablet_max_height":0,"ocean_custom_logo_mobile_max_height":0,"ocean_header_custom_menu":"","ocean_menu_typo_font_family":"","ocean_menu_typo_font_subset":"","ocean_menu_typo_font_size":0,"ocean_menu_typo_font_size_tablet":0,"ocean_menu_typo_font_size_mobile":0,"ocean_menu_typo_font_size_unit":"px","ocean_menu_typo_font_weight":"","ocean_menu_typo_font_weight_tablet":"","ocean_menu_typo_font_weight_mobile":"","ocean_menu_typo_transform":"","ocean_menu_typo_transform_tablet":"","ocean_menu_typo_transform_mobile":"","ocean_menu_typo_line_height":0,"ocean_menu_typo_line_height_tablet":0,"ocean_menu_typo_line_height_mobile":0,"ocean_menu_typo_line_height_unit":"","ocean_menu_typo_spacing":0,"ocean_menu_typo_spacing_tablet":0,"ocean_menu_typo_spacing_mobile":0,"ocean_menu_typo_spacing_unit":"","ocean_menu_link_color":"","ocean_menu_link_color_hover":"","ocean_menu_link_color_active":"","ocean_menu_link_background":"","ocean_menu_link_hover_background":"","ocean_menu_link_active_background":"","ocean_menu_social_links_bg":"","ocean_menu_social_hover_links_bg":"","ocean_menu_social_links_color":"","ocean_menu_social_hover_links_color":"","ocean_disable_title":"default","ocean_disable_heading":"default","ocean_post_title":"","ocean_post_subheading":"","ocean_post_title_style":"","ocean_post_title_background_color":"","ocean_post_title_background":0,"ocean_post_title_bg_image_position":"","ocean_post_title_bg_image_attachment":"","ocean_post_title_bg_image_repeat":"","ocean_post_title_bg_image_size":"","ocean_post_title_height":0,"ocean_post_title_bg_overlay":0.5,"ocean_post_title_bg_overlay_color":"","ocean_disable_breadcrumbs":"default","ocean_breadcrumbs_color":"","ocean_breadcrumbs_separator_color":"","ocean_breadcrumbs_links_color":"","ocean_breadcrumbs_links_hover_color":"","ocean_display_footer_widgets":"default","ocean_display_footer_bottom":"default","ocean_custom_footer_template":"","footnotes":""},"class_list":["post-1375","page","type-page","status-publish","hentry","entry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is TAOK1? - CureTAOK1<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/curetaok1.org\/?page_id=1375\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is TAOK1? - CureTAOK1\" \/>\n<meta property=\"og:description\" content=\"In brief TAOK1 is a gene located on chromosome 17 that carries the &#8220;instructions&#8221; for making a protein called TAO1 kinase &#8211; an enzyme essential for normal brain development. 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