Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of Miriam Nøstvik, Sarah M. Kateta and Bitten Schönewolf-Greulich shared first authorship. Rikke S. Møller and Zeynep Tümer shared senior authorship.

No abstract