Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with diagnostic categories. Clinical variability and ambiguity in diagnostic criteria exist among each disorder. Here we report an individual with a novel genotype and phenotype spanning all three disorders, expanding the phenotypic spectrum of RNU4ATAC-related spliceosomeopathies.
Keywords: Lowry-Wood syndrome; RNU4ATAC; Roifman syndrome; microcephalic osteodysplastic primordial dwarfism type 1; spliceosomopathy; whole genome sequencing.
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.