{"id":303,"date":"2025-08-22T18:24:13","date_gmt":"2025-08-22T18:24:13","guid":{"rendered":"https:\/\/herdemcare.org.tr\/tbl1xr1\/"},"modified":"2025-10-02T18:21:44","modified_gmt":"2025-10-02T18:21:44","slug":"tbl1xr1","status":"publish","type":"page","link":"https:\/\/herdemcare.org.tr\/en\/tbl1xr1\/","title":{"rendered":"TBL1XR1"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"303\" class=\"elementor elementor-303 elementor-104\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section-with-custom-width elementor-section elementor-top-section elementor-element elementor-element-657d67aa elementor-section-boxed elementor-section-height-default elementor-section-height-default sc_fly_static\" data-id=\"657d67aa\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-extended\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-7c425841 sc_content_align_inherit sc_layouts_column_icons_position_left sc_fly_static\" data-id=\"7c425841\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-42890b75 sc_fly_static elementor-widget elementor-widget-heading\" data-id=\"42890b75\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Events &amp; Announcements<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7a87c083 sc_fly_static elementor-widget elementor-widget-text-editor\" data-id=\"7a87c083\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"color: #000000;\"><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone wp-image-247 size-large\" src=\"https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-1024x516.jpg\" alt=\"\" width=\"1024\" height=\"516\" srcset=\"https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-1024x516.jpg 1024w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-300x151.jpg 300w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-768x387.jpg 768w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-1536x774.jpg 1536w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-2048x1032.jpg 2048w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-370x186.jpg 370w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-840x423.jpg 840w, https:\/\/herdemcare.org.tr\/wp-content\/uploads\/2025\/10\/2-1-scaled-e1759424524656-410x207.jpg 410w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/span><\/p><p><span style=\"color: #000000;\"><strong>TBL1XR1<\/strong> is a gene that plays a critical role in brain development and cellular communication. It regulates cellular signaling pathways, supporting the development, connectivity, and proper functioning of nerve cells.<\/span><\/p><h3><span style=\"color: #000000;\">What is TBL1XR1?<\/span><\/h3><p><span style=\"color: #000000;\"><strong>TBL1XR1 (Transducin Beta Like 1 X-Linked Receptor 1)<\/strong> regulates cellular signaling pathways and influences the growth, connectivity, and functioning of neurons. Mutations in this gene are associated with <strong>neurodevelopmental differences<\/strong>, often appearing in early childhood. Symptoms can vary from person to person, but commonly include:<\/span><\/p><ul><li><span style=\"color: #000000;\">Developmental delays (e.g., sitting, walking, speaking)<\/span><\/li><li><span style=\"color: #000000;\">Speech and motor coordination difficulties<\/span><\/li><li><span style=\"color: #000000;\">Epilepsy (history of seizures)<\/span><\/li><li><span style=\"color: #000000;\">Sensory sensitivities (light, sound, touch)<\/span><\/li><li><span style=\"color: #000000;\">Challenges in social interaction and autism-like behaviors<\/span><\/li><li><span style=\"color: #000000;\">Differences in muscle tone (hypotonia or stiffness)<\/span><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-2ec11aa7 sc_fly_static elementor-widget elementor-widget-heading\" data-id=\"2ec11aa7\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Diagnosis Process<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3fcb1ed5 sc_fly_static elementor-widget elementor-widget-text-editor\" data-id=\"3fcb1ed5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"color: #000000;\">Because TBL1XR1-related disorders are rare and symptoms can resemble other conditions, diagnosis can be complex. It usually involves <strong>Whole Exome Sequencing (WES)<\/strong> or targeted genetic panels. Clinical findings must be assessed collaboratively by specialists in <strong>pediatric neurology, genetics, developmental pediatrics, and psychiatry<\/strong>.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3276d90a sc_fly_static elementor-widget elementor-widget-heading\" data-id=\"3276d90a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Research and Treatment<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3b49f56 sc_fly_static elementor-widget elementor-widget-text-editor\" data-id=\"3b49f56\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"color: #000000;\">Currently, there is <strong>no curative treatment<\/strong> for TBL1XR1-related conditions. However, <strong>personalized early intervention programs<\/strong> can significantly support a child\u2019s development.<\/span><br \/><span style=\"color: #000000;\">Prof. Dr. <strong>Florian Eichler<\/strong> and his team at <strong>Harvard University<\/strong> are conducting <strong>gene therapy research<\/strong> targeting TBL1XR1 mutations, paving the way for potential future treatments.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5d67069a sc_fly_static elementor-widget elementor-widget-heading\" data-id=\"5d67069a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">Key Scientific Publications<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-218801dc sc_fly_static elementor-widget elementor-widget-text-editor\" data-id=\"218801dc\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li><span style=\"color: #000000;\">Neurological features in individuals with TBL1XR1 mutations, <em>Orphanet Journal of Rare Diseases<\/em> (2024) \u2013 biomedcentral.com<\/span><\/li><li><span style=\"color: #000000;\">TBL1XR1 regulation of the MAPK pathway in nervous system development, <em>Frontiers in Cell &amp; Developmental Biology<\/em> (2021) \u2013 <a style=\"color: #000000;\" href=\"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2021.641410\/full\" target=\"_blank\" rel=\"noopener\">link<\/a><\/span><\/li><li><span style=\"color: #000000;\">A TBL1XR1 deletion case with brain and heart malformations, <em>European Journal of Medical Genetics<\/em> (2018) \u2013 <a style=\"color: #000000;\" href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721216304943\" target=\"_blank\" rel=\"noopener\">link<\/a><\/span><\/li><li><span style=\"color: #000000;\">A specific TBL1XR1 mutation causing Pierpont syndrome, <em>Journal of Medical Genetics<\/em> (2015) \u2013 <a style=\"color: #000000;\" href=\"https:\/\/jmg.bmj.com\/content\/53\/5\/330\" target=\"_blank\" rel=\"noopener\">link<\/a><\/span><\/li><li><span style=\"color: #000000;\">TBL1XR1 roles in physiological and pathological conditions, <em>American Journal of Clinical and Experimental Urology<\/em> (2015) \u2013 <a style=\"color: #000000;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4446378\/\" target=\"_blank\" rel=\"noopener\">link<\/a><\/span><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3d607e16 sc_fly_static elementor-widget elementor-widget-heading\" data-id=\"3d607e16\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">For Families<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5acbe743 sc_fly_static elementor-widget elementor-widget-text-editor\" data-id=\"5acbe743\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"color: #000000;\">Navigating the post-diagnosis process alone can be exhausting and confusing. At <strong>Herdem \u00c7are<\/strong>, we walk this path with families, providing <strong>information, guidance, and solidarity<\/strong>.<\/span><\/p><p><span style=\"color: #000000;\"><strong>Patient Registration System<\/strong><\/span><br \/><span style=\"color: #000000;\">A platform for families to register and receive tailored support throughout the journey.<\/span><\/p><p><span style=\"color: #000000;\"><strong>Family Stories<\/strong><\/span><br \/><span style=\"color: #000000;\">Sharing experiences from other families helps new families feel understood and supported.<\/span><\/p><p><span style=\"color: #000000;\"><strong>Support Groups<\/strong><\/span><br \/><span style=\"color: #000000;\">We organize <strong>WhatsApp, Zoom, and occasional in-person meetings<\/strong>, creating safe spaces for families to share questions and experiences.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Events &amp; Announcements TBL1XR1 is a gene that plays a critical role in brain development and cellular communication. It regulates cellular signaling pathways, supporting the development, connectivity, and proper functioning&hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-303","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/pages\/303","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/comments?post=303"}],"version-history":[{"count":3,"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/pages\/303\/revisions"}],"predecessor-version":[{"id":321,"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/pages\/303\/revisions\/321"}],"wp:attachment":[{"href":"https:\/\/herdemcare.org.tr\/en\/wp-json\/wp\/v2\/media?parent=303"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}