Chromatinopathies: A focus on Cornelia de Lange syndrome

Laura Avagliano*, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, Valentina Massa

*Corresponding author for this work
5 Citations (Scopus)


In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome-like.” It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome, supporting the hypothesis that “CdLS-like syndromes” are part of a larger “rare disease family” sharing multiple clinical features and common disrupted molecular pathways.

Original languageEnglish
JournalClinical Genetics
Issue number1
Pages (from-to)3-11
Number of pages9
Publication statusPublished - 01.01.2020

Research Areas and Centers

  • Research Area: Medical Genetics


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