Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rius R., Blakes AJM., Chen Y., De Jonghe J., Alvi J., Amblard F., Austin-Tse C., Baer S., Balasubramanian M., Balton E., Barcia G., Bernstein J., Blanc P., Buchzik D., Calame D., Cogne B., Coutton C., Cunningham C., Dargie N., Depienne C., Dipple K., Dieux A., Dixit A., Dreyer L., Du H., El Chehadeh S., Field M., Geiger V., Gibbs R., Glass I., Grunewald O., Gueguen P., Haack T., Hadj Abdallah H., Harbuz R., Isidor B., Jacquemont M-L., Jeanne M., Korenke C., Kotzaeridou U., Leventer R., Lupski J., Marijon P., McGinnis K., Mendez R., Messaoud O., Nava C., Nizard M., O’Donnell-Luria A., O’Leary M., Olivieri S., Parida A., Pehlivan D., Posey J., Reuter C., Satre V., Schluth-Bolard C., Smol T., Sultan T., Thauvin C., Thevenon J., Uebergang E., Vincent-Delorme C., Wassmer E., Wheeler M., Yilmaz Gulec E., Vanderver A., Vossough A., Sanders S., Banka S., Findlay G., MacArthur D., Simons C., Whiffin N.

DOI

10.1101/2025.08.13.25333306

Type

Preprint

Publication Date

2025-01-01T00:00:00+00:00

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