Scientific Article 🇬🇧 Directly KS related

New Review Explores How Widespread Epigenetic Changes May Drive Chromatinopathies Like Kleefstra Syndrome

person Leandros Boukas & Hans T. Bjornsson

calendar_today Jul 14, 2026

A new review examines Mendelian disorders of the epigenetic machinery, including conditions such as Kleefstra syndrome. It proposes that symptoms may result from many small changes in chromatin and gene activity affecting multiple cellular pathways, rather than one disrupted process. The authors also discuss why severity varies between individuals and highlight emerging tools, including single-molecule profiling and targeted epigenome editing, that could deepen understanding of these disorders.