Chromatinopathies: A focus on Cornelia de Lange syndrome. Issue 1 (24th November 2019)

• Record Type: Journal Article
• Authors: Avagliano, Laura; Parenti, Ilaria; Grazioli, Paolo; Di Fede, Elisabetta; Parodi, Chiara; Mariani, Milena; Kaiser, Frank J.; Selicorni, Angelo; Gervasini, Cristina; Massa, Valentina
• Is Part Of: Clinical genetics. Volume 97:Issue 1(2020)
• Page Start: 3
• Page End: 11
• Publication Date: 2019-11-24
• Subjects: chromatin disorders -- cohesinopathies -- Cornelia de Lange syndrome -- genotype‐phenotype relationship; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13674
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: 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. Abstract :