A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

ConclusionWe described a novel Thr119Arg mutation in HDAC8 in a patient displaying the major phenotypic traits of the CdLS. Our results suggest that a modest change outside an active site is capable of triggering global structural changes that propagate through the protein scaffold to the catalytic site, creating de facto haploinsufficiency.

Source: Molecular Genetics & Genomic Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante Tags: CLINICAL REPORT Source Type: research