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

doi:10.1111/cge.13674

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

Institute of Human Genetics

University of Milan

52 Citations (Scopus)

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.

Original language	English
Journal	Clinical Genetics
Volume	97
Issue number	1
Pages (from-to)	3-11
Number of pages	9
ISSN	0009-9163
DOIs	https://doi.org/10.1111/cge.13674
Publication status	Published - 01.01.2020

Funding

The authors are grateful to the following fundings: Fondazione Cariplo (2015‐0783 to V.M.); Dipartimento DISS, Linea 2, Università degli Studi di Milano (to C.G. and V.M.); Molecular and Translational Medicine PhD—Università degli Studi di Milano scholarship (to P.G.); Translational Medicine PhD—Università degli Studi di Milano scholarship (to C.P.); Nickel & Co S.p.A; Medical Faculty of the University of Lübeck (J09‐2017 to I.P.); German Federal Ministry of Education and Research (BMBF) (CHROMATIN‐Net to F.J.K.). The authors would also like to thank the Italian National Association of Volunteers Cornelia de Lange for support and inspiration and Susanna Brusa for graphical support.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Research Area: Medical Genetics

Access to Document

10.1111/cge.13674

Cite this

@article{e3205994d32343edac6f6395232bdfa0,

title = "Chromatinopathies: A focus on Cornelia de Lange syndrome",

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.",

author = "Laura Avagliano and Ilaria Parenti and Paolo Grazioli and \{Di Fede\}, Elisabetta and Chiara Parodi and Milena Mariani and Kaiser, \{Frank J.\} and Angelo Selicorni and Cristina Gervasini and Valentina Massa",

note = "Funding Information: The authors are grateful to the following fundings: Fondazione Cariplo (2015‐0783 to V.M.); Dipartimento DISS, Linea 2, Universit{\`a} degli Studi di Milano (to C.G. and V.M.); Molecular and Translational Medicine PhD—Universit{\`a} degli Studi di Milano scholarship (to P.G.); Translational Medicine PhD—Universit{\`a} degli Studi di Milano scholarship (to C.P.); Nickel \& Co S.p.A; Medical Faculty of the University of L{\"u}beck (J09‐2017 to I.P.); German Federal Ministry of Education and Research (BMBF) (CHROMATIN‐Net to F.J.K.). The authors would also like to thank the Italian National Association of Volunteers Cornelia de Lange for support and inspiration and Susanna Brusa for graphical support. Publisher Copyright: {\textcopyright} 2019 John Wiley \& Sons A/S. Published by John Wiley \& Sons Ltd Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",

year = "2020",

month = jan,

day = "1",

doi = "10.1111/cge.13674",

language = "English",

volume = "97",

pages = "3--11",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "1",

}

TY - JOUR

T1 - Chromatinopathies: A focus on Cornelia de Lange syndrome

AU - Avagliano, Laura

AU - Parenti, Ilaria

AU - Grazioli, Paolo

AU - Di Fede, Elisabetta

AU - Parodi, Chiara

AU - Mariani, Milena

AU - Kaiser, Frank J.

AU - Selicorni, Angelo

AU - Gervasini, Cristina

AU - Massa, Valentina

N1 - Funding Information: The authors are grateful to the following fundings: Fondazione Cariplo (2015‐0783 to V.M.); Dipartimento DISS, Linea 2, Università degli Studi di Milano (to C.G. and V.M.); Molecular and Translational Medicine PhD—Università degli Studi di Milano scholarship (to P.G.); Translational Medicine PhD—Università degli Studi di Milano scholarship (to C.P.); Nickel & Co S.p.A; Medical Faculty of the University of Lübeck (J09‐2017 to I.P.); German Federal Ministry of Education and Research (BMBF) (CHROMATIN‐Net to F.J.K.). The authors would also like to thank the Italian National Association of Volunteers Cornelia de Lange for support and inspiration and Susanna Brusa for graphical support. Publisher Copyright: © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/1/1

Y1 - 2020/1/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85075416302

U2 - 10.1111/cge.13674

DO - 10.1111/cge.13674

M3 - Scientific review articles

C2 - 31721174

AN - SCOPUS:85075416302

SN - 0009-9163

VL - 97

SP - 3

EP - 11

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

Chromatinopathies: A focus on Cornelia de Lange syndrome

Abstract

Funding

UN SDGs

Research Areas and Centers

Access to Document

Other files and links

Fingerprint

Cite this