<i>SETD2</i> and <i>DNMT3A</i> screen in the Sotos-like syndrome French cohort

Abstract

Our results illustrate the power of targeted NGS to identify rare disease-causing variants. These observations provided evidence for a unifying mechanism (disruption of apposition and reading of the epigenetic chromatin mark H3K36me) that causes an overgrowth syndrome phenotype. Further studies are needed in order to assess the role of <i>SETD2</i> and <i>DNMT3A</i> in intellectual deficiency without overgrowth.