PUF60 and 8q24.3 microdeletion syndrome: In this study, we describe a new patient with VRJS caused by a novel PUF60 variant and we (1) expand the phenotypic spectrum of VRJS and review the literature, and (2) since no episignature has been associated with PUF60 as yet, we aim to explore whether our patient exhibits a DNA methylation pattern that overlaps with any of the 65 genetic syndromes.