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 recognisable, 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.

Chromatinopathies: a focus on Cornelia de Lange Syndrome / L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 97:1(2020 Jan), pp. 3-11. [10.1111/cge.13674]

Chromatinopathies: a focus on Cornelia de Lange Syndrome

L. Avagliano
;
I. Parenti;P. Grazioli;E. Di Fede;C. Parodi;M. Mariani;C. Gervasini;V. Massa
2020

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 recognisable, 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.
Chromatin disorders; Cohesinopathies; Cornelia de Lange Syndrome; Genotype-phenotype relationship
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
gen-2020
13-nov-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/692533
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