Intellectual development disorders: two new genes implicated
11 June 2025
An international research team led in France by Inserm, CNRS, CHU Grenoble-Alpes, Université Grenoble-Alpes, Assistance publique des hôpitaux de Paris - APHP and the University of Essen in Germany, has succeeded in identifying two new genes that play a role in the onset of intellectual development disorders (IDD), in collaboration with Sorbonne Université, CHU Nantes, Université de Nantes and Université de Rouen-Normandie. The scientists also succeeded in developing two new types of test to diagnose Renu syndrome, a rare disease associated with mutations in the RNU4-2 gene that manifests itself, among other things, in intellectual developmental delays. These results, published in the journal Nature Genetics, are based on the analysis of nearly 24,000 genomes of French patients suffering from rare diseases. In addition to improving our knowledge of the causes of these diseases, they will enable us to provide a diagnosis for many patients who were previously at a loss. This study is part of the France Genomic Medicine Plan, led by Inserm.
Bibliography:
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nava, C.1, Cogne, B.2, Santini, A.3 et al.
Nature Genetics : https://doi.org/10.1038/s41588-025-02184-4