Genome-wide epigenetic signatures facilitated the variant classification of the PURAgene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders

Rare genetic variants in the PURAgene cause the PURA-related neurodevelopmental disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay. Using genome-wide DNA methylation analysis on patients with PURAvariants, we aim to establish a PURA-NDD-specific methylation profile and provide further insights on the molecular basis of the PURA-NDD.