{"id":12380,"date":"2024-01-04T12:07:00","date_gmt":"2024-01-04T11:07:00","guid":{"rendered":"https:\/\/www.arcensus-diagnostics.com\/?p=12380"},"modified":"2025-02-07T13:13:25","modified_gmt":"2025-02-07T12:13:25","slug":"bi-allelic-genetic-variants-in-the-translational-gtpases-gtpbp1-and-gtpbp2-cause-a-distinct-identical-neurodevelopmental-syndrome","status":"publish","type":"post","link":"https:\/\/www.arcensus-diagnostics.com\/en\/publications\/2024\/01\/bi-allelic-genetic-variants-in-the-translational-gtpases-gtpbp1-and-gtpbp2-cause-a-distinct-identical-neurodevelopmental-syndrome\/","title":{"rendered":"Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome"},"content":{"rendered":"\n<p>At Arcensus, we periodically analyse unresolved cases and collaborate with researchers across the globe to uncover the role of novel disease associated genes.<br>&nbsp;<br>An example of this successful collaboration is the new study by Salpietro et al., revealing the role of the uncharacterized GTPBP1 gene. The study shows that individuals with damaging alterations in GTPBP1 gene phenotypically overlap with patients having pathogenic variants in GTPBP2 gene, which results in an identical neurodevelopmental syndrome, now proposed as \u201cGREND syndrome\u201d.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-summary\">Summary<\/h3>\n\n\n\n<p>The homologous genes&nbsp;<em>GTPBP1<\/em>&nbsp;and&nbsp;<em>GTPBP2<\/em>&nbsp;encode GTP-binding proteins 1 and 2, which are involved in ribosomal&nbsp;<a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/homeostasis\" target=\"_blank\" rel=\"noreferrer noopener\">homeostasis<\/a>. Pathogenic variants in&nbsp;<em>GTPBP2<\/em>&nbsp;were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to&nbsp;<em>GTPBP1<\/em>. Here, we describe individuals carrying bi-allelic&nbsp;<em>GTPBP1<\/em>&nbsp;variants that display an identical phenotype with&nbsp;<em>GTPBP2<\/em>&nbsp;and characterize the overall spectrum of GTP-binding protein (1\/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified&nbsp;<a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/genetic-divergence\" target=\"_blank\" rel=\"noreferrer noopener\">genetic variants<\/a>, semi-quantitative PCR,&nbsp;<a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/western-blot\" target=\"_blank\" rel=\"noreferrer noopener\">western blot<\/a>, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of&nbsp;<em>CG2017<\/em>, an ortholog of human&nbsp;<em>GTPBP1\/2<\/em>, in the fruit fly&nbsp;<em><a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/drosophila-melanogaster\" target=\"_blank\" rel=\"noreferrer noopener\">Drosophila melanogaster<\/a><\/em>. Individuals with bi-allelic&nbsp;<em>GTPBP1<\/em>&nbsp;or&nbsp;<em>GTPBP2<\/em>&nbsp;variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and\/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of&nbsp;<em>CG2017<\/em>&nbsp;<a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/isoform\" target=\"_blank\" rel=\"noreferrer noopener\">isoforms<\/a>&nbsp;was associated with locomotor impairment in&nbsp;<em>Drosophila<\/em>. In conclusion, bi-allelic&nbsp;<em>GTPBP1<\/em>&nbsp;and&nbsp;<em>GTPBP2<\/em>&nbsp;LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant&nbsp;<em>CG2017<\/em>&nbsp;knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in&nbsp;<a href=\"https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/nervous-system-development\" target=\"_blank\" rel=\"noreferrer noopener\">CNS development<\/a>&nbsp;across species.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-open-access-link\">Open Access Link<\/h3>\n\n\n\n<p><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929723004305\" target=\"_blank\" rel=\"noreferrer noopener\">Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome &#8211; ScienceDirect<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>At Arcensus, we periodically analyse unresolved cases and collaborate with researchers across the globe to uncover the role of novel disease associated genes.&nbsp;An example of this successful collaboration is the new study by Salpietro et al., revealing the role of the uncharacterized GTPBP1 gene. The study shows that individuals with damaging alterations in GTPBP1 gene [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":14796,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[82],"tags":[],"class_list":["post-12380","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v25.6 (Yoast SEO v25.6) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Arcensus &#8211; Variants in GTPBP1 and GTPBP2 cause GREND syndrome<\/title>\n<meta name=\"description\" content=\"Study shows that patients with pathogenic variants in GTPBP1 or GTPBP2 result in an identical neurodevelopmental syndrome, proposed as \u201cGREND syndrome\u201d.\" \/>\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.arcensus-diagnostics.com\/en\/publications\/2024\/01\/bi-allelic-genetic-variants-in-the-translational-gtpases-gtpbp1-and-gtpbp2-cause-a-distinct-identical-neurodevelopmental-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome\" \/>\n<meta property=\"og:description\" content=\"Study shows that patients with pathogenic variants in GTPBP1 or GTPBP2 result in an identical neurodevelopmental syndrome, proposed as \u201cGREND syndrome\u201d.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.arcensus-diagnostics.com\/en\/publications\/2024\/01\/bi-allelic-genetic-variants-in-the-translational-gtpases-gtpbp1-and-gtpbp2-cause-a-distinct-identical-neurodevelopmental-syndrome\/\" 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