Researchers Identify RNU4-2 Gene Mutations As Explanation For Previously Unexplained Intellectual Disability

NBC News (5/31, Bendix) reported, “A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study” published in Nature Medicine. The study “investigates the effects of mutations in the gene RNU4-2, which is found in all animals, plants and fungi. The gene plays an important role in gene splicing,” and researchers “said that in theory, mutations in the RNU4-2 gene could disrupt that splicing process, ultimately leading to abnormal brain development and intellectual disability.”