AUTHOR=Parodi Chiara , Di Fede Elisabetta , Peron Angela , Viganò Ilaria , Grazioli Paolo , Castiglioni Silvia , Finnell Richard H. , Gervasini Cristina , Vignoli Aglaia , Massa Valentina TITLE=Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies JOURNAL=Frontiers in Cell and Developmental Biology VOLUME=9 YEAR=2021 URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2021.654467 DOI=10.3389/fcell.2021.654467 ISSN=2296-634X 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. Remarkably, critically examining the phenotype of FVSD and chromatinopathies, they shared several overlapping features that can be observed despite the different etiologies of these disorders, suggesting the possible existence of a common perturbed mechanism(s) during embryonic development.