Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

• Published in: Nature medicine Vol. 30; no. 8; pp. 2165 - 2169
• Main Authors: Greene, Daniel, Thys, Chantal, Berry, Ian R., Jarvis, Joanna, Ortibus, Els, Mumford, Andrew D., Freson, Kathleen, Turro, Ernest
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2024; Nature Publishing Group
• Subjects: 631/208/2489/144; 631/208/366; Association analysis; Biomedical and Life Sciences; Biomedicine; Brief Communication; Cancer Research; Critical components; Etiology; Genetic analysis; Genetic screening; Genomic analysis; Hypotonia; Infectious Diseases; Intellectual disabilities; Metabolic Diseases; Microencephaly; Molecular Medicine; Mutation; Neurodevelopmental disorders; Neurological diseases; Neurosciences; Seizures; snRNA

Most people with intellectual disability (ID) do not receive a molecular diagnosis following genetic testing. To identify new etiologies of ID, we performed a genetic association analysis comparing the burden of rare variants in 41,132 noncoding genes between 5,529 unrelated cases and 46,401 unrelat...