{"id":29293,"date":"2026-03-30T13:47:50","date_gmt":"2026-03-30T13:47:50","guid":{"rendered":"https:\/\/christiancorner.us\/index.php\/2026\/03\/30\/mount-sinai-researchers-have-identified-a-highly-prevalent-recessive-neurodevelopmental-disorder\/"},"modified":"2026-03-30T13:48:00","modified_gmt":"2026-03-30T13:48:00","slug":"mount-sinai-researchers-have-identified-a-highly-prevalent-recessive-neurodevelopmental-disorder","status":"publish","type":"post","link":"https:\/\/christiancorner.us\/index.php\/2026\/03\/30\/mount-sinai-researchers-have-identified-a-highly-prevalent-recessive-neurodevelopmental-disorder\/","title":{"rendered":"Mount Sinai researchers have identified a highly prevalent recessive neurodevelopmental disorder."},"content":{"rendered":"\n
\n <\/span><\/p>\n

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD), which appears to be the most prevalent yet discovered. This condition is caused by changes in a small noncoding gene called RNU2-2<\/em>. It is estimated to affect thousands of individuals in the United States and accounts for approximately 10 percent of all recessive NDD cases with a known genetic cause.<\/p>\n

The work was done in collaboration with U.S. colleagues in the Undiagnosed Diseases Network, led by colleagues at Stanford University, and international collaborators from the United Kingdom, the Netherlands, Belgium, and Italy. The findings, published in the March 30 issue nature genetics<\/em> (https:\/\/doi.org\/10.1038\/s41588-026-02539-5<\/a>), provide long-awaited answers for many families and may inform the future <\/strong>drug development.<\/p>\n

The team found that the disorder is caused by the almost complete absence of a molecule called U2-2 RNA, which is produced RNU2-2<\/em> Jean. Children with this condition usually inherit an altered copy of the gene from each parent, although sometimes the changes arise spontaneously due to a genetic mutation. While the parents remain unaffected, the combined effect on both copies of the gene results in disrupted brain development in their child.<\/p>\n

Symptoms of this disorder vary widely depending on the specific genetic changes the child has. Common features include low muscle tone, developmental delay, and limited speech. Some children have mild learning difficulties or signs of autism, while others have epilepsy, movement disorders or trouble walking. Brain imaging may appear normal initially but may show changes over time. In the most severe cases, additional challenges may include feeding difficulties or respiratory problems. The wide range of symptoms reflects how the underlying RNA deficiency affects each child differently.<\/p>\n

\n

Our discovery gives families what they have often waited years for \u2013 a clear molecular explanation for their child’s condition. For many families, that clarity can be deeply meaningful after a long and uncertain diagnosis journey. At the same time, it gives the research community a solid biological target to guide future therapeutics.”<\/p>\n

Daniel Green, PhD, first author of the study, assistant professor of genetics and genomic sciences, Icahn School of Medicine<\/p>\n<\/blockquote>\n

Using whole-genome sequencing data from the United Kingdom’s National Genomics Research Library, the team examined rare genetic variants in more than 41,000 non-coding genes\u2014genes that produce functional RNA molecules that do not encode proteins. They analyzed genetic data from 14,805 individuals with NDD and 52,861 \u201ccontrols\u201d without NDD. His statistical approach was specifically designed to detect dominant and recessive conditions. RNA sequencing of the blood of patients and controls revealed the immediate biological consequence of the disease-causing variant: severe reduction of U2-2 RNA.<\/p>\n

<\/p>\n

The discovery builds on two earlier landmark developments by the research group led by Ernest Turow, PhD, associate professor of genetics and genomic sciences at the Icahn School of Medicine.<\/p>\n

The new study expands this story by demonstrating that recessive changes in RNU2-2<\/em> Causes a distinct and surprisingly prevalent disorder, now called recessive ReNU2 syndrome. Specifically, researchers estimate that this recessive condition may be 60 percent as common as ReNU syndrome, which is unusual\u2014the most prevalent NDDs are dominant rather than recessive.<\/p>\n

Investigators are now enrolling families in the INDEED study at Mount Sinai to help provide a diagnosis and better understand the condition. Future work will focus on deepening the understanding of the biology behind the disorder and identifying pathways toward future treatments.<\/p>\n

“Our discovery will enable thousands of families affected by this previously hidden genetic condition to find closure through genetic diagnosis. Parents will have the opportunity to connect with each other through the recently established ReNU2 Syndrome Foundation. Given the recessive inheritance pattern, the diagnosis will provide important information for family planning,” says senior study author Dr. Turow.<\/p>\n

\u201cAlthough a specific treatment for recessive ReNU2 syndrome is not yet available, understanding that this disorder arises from loss of U2-2 RNA points to potential gene replacement strategies in the future,\u201d he explains. “We are now enrolling families into the study to actually diagnose affected individuals, improve our understanding of the natural course of the condition, develop clinical management guidelines, and explore how U2-2 RNA loss disrupts neurodevelopment. We hope these steps will lay a strong foundation for future clinical trials.”<\/p>\n

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Source:<\/p>\n

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Mount Sinai Health System<\/a><\/p>\n<\/div>\n

Journal Reference:<\/p>\n

\n

Green, D., And others.<\/em> (2026). Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorders. nature genetics<\/em>. doi:10.1038\/s41588-026-02539-5. https:\/\/www.nature.com\/articles\/s41588-026-02539-5<\/a><\/p>\n<\/div>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD), which appears to be the most prevalent yet discovered. This condition is caused by changes in a small noncoding gene called RNU2-2. It is estimated to affect thousands of individuals in<\/p>\n","protected":false},"author":1,"featured_media":6566,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[59],"tags":[11439,5763,8141,12678,12683,12681,12682,12680,12679],"class_list":{"0":"post-29293","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-daily-bread","8":"tag-disorder","9":"tag-highly","10":"tag-identified","11":"tag-mount","12":"tag-neurodevelopmental","13":"tag-prevalent","14":"tag-recessive","15":"tag-researchers","16":"tag-sinai"},"_links":{"self":[{"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/posts\/29293","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/comments?post=29293"}],"version-history":[{"count":1,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/posts\/29293\/revisions"}],"predecessor-version":[{"id":29294,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/posts\/29293\/revisions\/29294"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/media\/6566"}],"wp:attachment":[{"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/media?parent=29293"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/categories?post=29293"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/christiancorner.us\/index.php\/wp-json\/wp\/v2\/tags?post=29293"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}