{"id":7175,"date":"2022-05-10T15:17:34","date_gmt":"2022-05-10T13:17:34","guid":{"rendered":"https:\/\/www.nexmif.it\/cose-nexmif\/"},"modified":"2023-11-30T09:30:00","modified_gmt":"2023-11-30T08:30:00","slug":"what-is-nexmif","status":"publish","type":"page","link":"https:\/\/www.nexmif.it\/en\/what-is-nexmif\/","title":{"rendered":"What is Nexmif"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"7175\" class=\"elementor elementor-7175 elementor-6339\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4beae3b elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4beae3b\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-20d8e3c column-style-top column-top\" data-id=\"20d8e3c\" data-element_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-6ddf505 elementor-widget elementor-widget-gva-heading-block\" data-id=\"6ddf505\" data-element_type=\"widget\" data-widget_type=\"gva-heading-block.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div class=\"gva-element-gva-heading-block gva-element\">   <div class=\"align-center style-1 widget gsc-heading\">\r\n      <div class=\"content-inner\">\r\n                     <div class=\"heading-icon\"><img decoding=\"async\" src=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/gavias-oxpitan-themer\/elementor\/assets\/images\/icon-heading.png\" alt=\"The Nexmif syndrome\"\/><\/div>\r\n           \r\n                     <h2 class=\"title\">\r\n               <span>The Nexmif syndrome<\/span>\r\n            <\/h2>\r\n                              <div class=\"sub-title\"><span>What is it?<\/span><\/div>\r\n                  \r\n               <\/div>\r\n   <\/div>\r\n   <div class=\"clearfix\"><\/div>\r\n<\/div>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-bbab82a elementor-widget elementor-widget-text-editor\" data-id=\"bbab82a\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p>The <strong>Neurite EXtension and Migration Factor<\/strong> gene (NEXMIF &#8211; formerly known as KIAA2022, KIDLIA, XPN OR MRX-98) discovered in 2004 and clinically described between 2013 and 2016, is localized on the X chromosome at Xq13.2, with<br \/>little known biological function and encodes a deduced protein of 1516 amino acids.<br \/><br \/>The Nexmif knockdown leads to a <strong>marked impairment in neurite outgrowth<\/strong>, with a particular impact on <strong>dendrites<\/strong> and <strong>axons<\/strong> lenght.<\/p>\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<section class=\"elementor-section elementor-top-section elementor-element elementor-element-1d92713 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"1d92713\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-b13219d column-style-top column-top\" data-id=\"b13219d\" data-element_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-23b8e11 elementor-widget elementor-widget-image\" data-id=\"23b8e11\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-widget-image{text-align:center}.elementor-widget-image a{display:inline-block}.elementor-widget-image a img[src$=\".svg\"]{width:48px}.elementor-widget-image img{vertical-align:middle;display:inline-block}<\/style>\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"750\" height=\"510\" src=\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/cos-e-nexmif_1-750x510.jpg\" class=\"attachment-medium size-medium wp-image-8027\" alt=\"\" \/>\t\t\t\t\t\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-360c2b1 elementor-widget elementor-widget-text-editor\" data-id=\"360c2b1\" data-element_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<p>The underlying mechanism is the probable loss of function ranging from a <strong>total loss<\/strong> in hemizygotic <strong>males<\/strong> to a partial loss, with <strong>variable<\/strong> protein expression <strong>decrease<\/strong> in <strong>females<\/strong> due to X chromosome (XCI) inactivation.<\/p>\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<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-f2d9724 column-style-top column-top\" data-id=\"f2d9724\" data-element_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-907288f elementor-widget elementor-widget-text-editor\" data-id=\"907288f\" data-element_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<p>The protein product of this gene is thought to play an important role in <strong>early brain development<\/strong>, neuronal morphogenesis, migration and synapse formation.<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-6a4a60e elementor-widget elementor-widget-image\" data-id=\"6a4a60e\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"750\" height=\"510\" src=\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/cos-e-nexmif_2-750x510.jpg\" class=\"attachment-medium size-medium wp-image-8029\" alt=\"\" \/>\t\t\t\t\t\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<section class=\"elementor-section elementor-top-section elementor-element elementor-element-8cbf696 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"8cbf696\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-01d1534 column-style-top column-top\" data-id=\"01d1534\" data-element_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-bd8ffd5 elementor-widget elementor-widget-text-editor\" data-id=\"bd8ffd5\" data-element_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<p><img decoding=\"async\" class=\"alignleft wp-image-5821 boxshadowimg\" src=\"https:\/\/www.nexmif.it\/wp-content\/uploads\/2022\/05\/cos-e-nexmif_3.jpg\" alt=\"\" width=\"450\" height=\"300\" \/><\/p><p>Nexmif mRNA expression has been shown to begin <strong>as early as the fetal period<\/strong>, increase during development and continue to a lower level in adulthood, showing particularly strong expression in the cortex, hippocampus, cerebellum and olfactory bulb.<\/p><p>Symptoms of this mutation mainly concern <strong>intellectual disability<\/strong> and developmental delay <strong>starting from walking and talking<\/strong>.<\/p><p>In <strong>females<\/strong>, a severe drug-resistant epilepsy is often present. Behavioral disorders at various levels are reported very commonly, including hyperactivity and autism spectrum. Other <strong>comorbidities<\/strong> also occur such as infantile hypotonia, ataxia, gastroesophageal reflux, drooling, spasticity, lack of sphincter control, microcephaly and strabismus.<\/p><p><strong>Mutations in the Nexmif gene<\/strong> should be suspected in all cases of X-linked <strong>intellectual disability in males<\/strong> or even in cases of <strong>refractory epilepsy in females<\/strong>.<\/p>\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<section class=\"elementor-section elementor-top-section elementor-element elementor-element-7c69e28f elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"7c69e28f\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-15d0c896 column-style-top column-top\" data-id=\"15d0c896\" data-element_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-8eda7a3 elementor-align-center elementor-widget elementor-widget-button\" data-id=\"8eda7a3\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-xl elementor-animation-grow\" href=\"\/en\/nexmif\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-arrow-circle-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Back to the Nexmif section<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\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>The Nexmif syndrome What is it? The Neurite EXtension and Migration Factor gene (NEXMIF &#8211; formerly known as KIAA2022, KIDLIA, XPN OR MRX-98) discovered in 2004 and clinically described between 2013 and 2016, is localized on the X chromosome at Xq13.2, withlittle known biological function and encodes a deduced protein of 1516 amino acids. The [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_mc_calendar":[],"footnotes":""},"class_list":["post-7175","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>What is Nexmif syndrome - Unione Italiana Nexmif<\/title>\n<meta name=\"description\" content=\"The Neurite EXtension and MIgration Factor (NEXMIF) gene is caused by a mutation in the X gene that affects and impairs brain development.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.nexmif.it\/en\/what-is-nexmif\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is Nexmif syndrome - 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