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 JR., Amblard F., Austin-Tse C., Baer S., Balasubramanian M., Balton EV., Barcia G., Bernstein JA., Blanc P., Buchzik D., Calame DG., Cogne B., Coutton C., Cunningham CA., Dargie N., Depienne C., Dipple KM., Dieux A., Dixit A., Dreyer L., Du H., El Chehadeh S., Field M., Geiger V., Gibbs RA., Glass I., Grunewald O., Gueguen P., Haack TB., Hadj Abdallah H., Harbuz R., Isidor B., Jacquemont M-L., Jeanne M., Korenke GC., Kotzaeridou U., Leventer RJ., Lupski JR., Marijon P., McGinnis KE., Mendez R., Messaoud O., Nava C., Nizard M., O’Donnell-Luria A., O’Leary MC., Olivieri S., Parida A., Pehlivan D., Posey JE., Reuter CM., Satre V., Schluth-Bolard C., Smol T., Sultan T., Thauvin C., Thevenon J., Uebergang E., Vincent-Delorme C., Wassmer E., Wheeler MT., Yilmaz Gulec E., Vanderver A., Vossough A., Sanders SJ., Banka S., Findlay GM., MacArthur DG., Simons C., Whiffin N.

DOI

10.1101/2025.08.13.25333306

Type

Preprint

Publication Date

2025-08-16T00:00:00+00:00

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