Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies.

ABSTRACT: Prenatal exposure to valproate (VPA), an antiepileptic drug, has been associated with fetal valproate spectrum disorders (FVSD), a clinical condition including congenital malformations, developmental delay, intellectual disability as well as autism spectrum disorder, together with a distinctive facial appearance. VPA is a known inhibitor of histone deacetylase which regulates the chromatin state. Interestingly, perturbations of this epigenetic balance are associated with chromatinopathies, a heterogeneous group of Mendelian disorders arising from mutations in components of the epigenetic machinery. Patients affected from these disorders display a plethora of clinical signs, mainly neurological deficits and intellectual disability, together with distinctive craniofacial dysmorphisms. Remark

SUBMITTER: Parodi C 

PROVIDER: S-EPMC8093873 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature