{"id":16268,"date":"2025-04-13T10:35:08","date_gmt":"2025-04-13T10:35:08","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/16268\/"},"modified":"2025-04-13T10:35:08","modified_gmt":"2025-04-13T10:35:08","slug":"newly-discovered-gene-mutation-linked-to-neurodevelopmental-disorders","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/16268\/","title":{"rendered":"Newly Discovered Gene Mutation Linked to Neurodevelopmental Disorders"},"content":{"rendered":"<p><strong>Summary: <\/strong>Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder, often accompanied by severe epilepsy. The discovery sheds light on the critical role of small non-coding genes in brain development and could affect thousands of families globally.<\/p>\n<p>RNU2-2 joins RNU4-2, previously linked to a related disorder, in highlighting the importance of this gene class. The findings were made possible through large-scale genome sequencing and pave the way for better diagnosis, support, and future therapeutic research.<\/p>\n<p><strong>Key Facts:<\/strong><\/p>\n<ul class=\"wp-block-list\">\n<li><strong>New Genetic Cause:<\/strong> Mutations in the small non-coding gene RNU2-2 are linked to a severe neurodevelopmental disorder with epilepsy.<\/li>\n<li><strong>Spontaneous Mutations:<\/strong> These mutations usually arise spontaneously rather than being inherited.<\/li>\n<li><strong>Broader Impact:<\/strong> The disorder may affect thousands worldwide and highlights the importance of non-coding genes in brain development.<\/li>\n<\/ul>\n<p><strong>Source: <\/strong>Mount Sinai Hospital<\/p>\n<p><strong>A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). <\/strong><\/p>\n<p>The discovery offers both closure and hope to potentially thousands of families worldwide who have long been searching for answers.<\/p>\n<p>  <img fetchpriority=\"high\" decoding=\"async\" width=\"1200\" height=\"799\" src=\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2025\/04\/neurodevelopment-genetics-neuroscience.jpg\" alt=\"This shows a child and DNA.\"  \/> The authors also identified a separate mutation in RNU2-2 that tends to arise in unaffected individuals as they age, which may have implications for age-related conditions. Credit: Neuroscience News<\/p>\n<p>The study, published in the April 10<strong>\u00a0<\/strong>online issue of\u00a0Nature Genetics,<strong>\u00a0<\/strong>reveals that mutations in a small, previously overlooked non-coding gene called\u00a0RNU2-2\u00a0are responsible for relatively common NDD.<\/p>\n<p>Non-coding genes are genes that don\u2019t produce proteins but may still play critical roles in regulating cell functions.<\/p>\n<p>Building on\u00a0their landmark discovery of\u00a0RNU4-2\u00a0\/ ReNU syndrome last year, the research team has identified the new, related disorder caused by mutations in the non-coding gene\u00a0RNU2-2.\u00a0RNU4-2\u00a0\/\u00a0ReNU syndrome\u00a0and\u00a0RNU2-2\u00a0syndromes share similarities, but patients with\u00a0RNU2-2\u00a0syndrome tend to be more severely affected by epilepsy.<\/p>\n<p>\u201cOur identification of\u00a0RNU2-2\u00a0mutations as a cause of NDDs is particularly notable because it cements the biological significance of a class of small non-coding genes in NDDs,\u201d says the study\u2019s first author,\u00a0Daniel\u00a0Greene, PhD, Assistant Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.<\/p>\n<p>\u201cThese mutations tend to occur spontaneously, rather than being inherited from an affected person\u2019s parents.\u201d<\/p>\n<p>NDDs are disorders that affect the development of the brain and nervous system. They include conditions such as intellectual disability, autism spectrum disorder, and motor disorders.<\/p>\n<p>These NDDs, which often have a genetic basis, manifest in early childhood and can lead to lifelong challenges in learning, behavior, and communication. The current findings involve a newly discovered form of NDD.<\/p>\n<p>\u201cWe know from years of experience supporting patients and families with rare genetic conditions how receiving a diagnosis like this can be life-changing and the first step on the journey to putting in place the right support and care,\u201d says Sarah Wynn, PhD, Chief Executive Officer of Unique, an organization that provides support, information, and a voice for all those affected by rare chromosome or gene disorders.<\/p>\n<p>Advances in genetic sequencing, including whole-genome sequencing of more than 50,000 individuals by Genomics England, made the development possible. This enabled the researchers to identify the cause of the novel disorder as mutations in\u00a0RNU2-2, a gene once thought to be inactive.<\/p>\n<p>The authors also identified a separate mutation in\u00a0RNU2-2\u00a0that tends to arise in unaffected individuals as they age, which may have implications for age-related conditions.<\/p>\n<p>\u201cWe estimate that the prevalence of\u00a0RNU2-2\u00a0disorder is approximately 20 percent that of\u00a0RNU4-2\u00a0\/ ReNU syndrome, one of the most common monogenic types of NDD. This means there must be thousands of affected families worldwide,\u201d says senior study author\u00a0Ernest Turro, PhD,\u00a0Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.<\/p>\n<p>\u201cWith a genetic diagnosis in hand, families can connect with others in similar situations, share valuable experiences, and gain a better understanding of how to manage the condition. This discovery also makes possible further research to explore the molecular mechanisms underlying the disorder,\u201d says Dr. Turro.<\/p>\n<p>About this genetics and neurodevelopment research news<\/p>\n<p class=\"has-background\" style=\"background-color:#ffffe8\"><strong>Author: <\/strong><a href=\"http:\/\/neurosciencenews.com\/cdn-cgi\/l\/email-protection#0d666c7f646323687e6668636c77644d607e7e6023686978\" target=\"_blank\" rel=\"noreferrer noopener\">Karin Eskenazi<\/a><br \/><strong>Source: <\/strong><a href=\"https:\/\/mssm.edu\" target=\"_blank\" rel=\"noreferrer noopener\">Mount Sinai Hospital<\/a><br \/><strong>Contact: <\/strong>Karin Eskenazi \u2013 Mount Sinai Hospital<br \/><strong>Image: <\/strong>The image is credited to Neuroscience News<\/p>\n<p class=\"has-background\" style=\"background-color:#ffffe8\"><strong>Original Research: <\/strong>Open access.<br \/>\u201c<a href=\"https:\/\/dx.doi.org\/10.1038\/s41588-025-02159-5\" target=\"_blank\" rel=\"noreferrer noopener\">Mutations in the snRNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy<\/a>\u201d by Daniel\u00a0Greene et al. Nature Genetics<\/p>\n<p><strong>Abstract<\/strong><\/p>\n<p><strong>Mutations in the snRNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy<\/strong><\/p>\n<p>The major spliceosome includes five small nuclear RNA (snRNAs), U1, U2, U4, U5 and U6, each of which is encoded by multiple genes. We recently showed that mutations in\u00a0RNU4-2, the gene that encodes the U4-2 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders.<\/p>\n<p>Here, we report that recurrent germline mutations in\u00a0RNU2-2\u00a0(previously known as pseudogene\u00a0RNU2-2P), a 191-bp gene that encodes the U2-2 snRNA, are responsible for a related disorder.<\/p>\n<p>By genetic association, we identified recurrent de novo single-nucleotide mutations at nucleotide positions 4 and 35 of\u00a0RNU2-2\u00a0in nine cases. We replicated this finding in 16 additional cases, bringing the total to 25.<\/p>\n<p>We estimate that\u00a0RNU2-2\u00a0syndrome has a prevalence of ~20% that of\u00a0RNU4-2\u00a0syndrome. The disorder is characterized by intellectual disability, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype.<\/p>\n<p>We found that U2-2 and canonical U2-1 were similarly expressed in blood. Despite mutant U2-2 being expressed in patient blood samples, we found no evidence of missplicing.<\/p>\n<p>Our findings cement the role of major spliceosomal snRNAs in the etiologies of neurodevelopmental disorders.<\/p>\n","protected":false},"excerpt":{"rendered":"Summary: Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental&hellip;\n","protected":false},"author":2,"featured_media":16269,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[648,215,11021,649,11022,267,11023,219,654,220,70,16,15],"class_list":{"0":"post-16268","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-brain-development","9":"tag-brain-research","10":"tag-childhood-epilepsy","11":"tag-developmental-neuroscience","12":"tag-epilepsy","13":"tag-genetics","14":"tag-mount-sinai-hospital","15":"tag-neurobiology","16":"tag-neurodevelopment","17":"tag-neuroscience","18":"tag-science","19":"tag-uk","20":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114330214894116014","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/16268","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=16268"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/16268\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/16269"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=16268"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=16268"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=16268"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}