EP189: Insights into the phenotype of KDM1A-related neurodevelopmental disorder: A new chromatinopathy

Abstract

Chromatinopathies are a molecular heterogeneous group of neurodevelopmental syndromes with typical abnormal face related to congenital chromatin remodelling defects. The lysine-specific demethylase 1A gene (KDM1A, OMIM*609132) encodes a histone demethylase which is involved in chromatin remodeling. Recently, de novo missense variants in KDM1A gene were linked to developmental delay/intellectual disability (DD/ID) with specific dysmorphisms, thus a new chromatinopathy is emerging, namely the Cleft Palate, Psychomotor Retardation and Distinctive Facial Features Syndrome (CPRF, OMIM#616728).