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Clin Genet. 2020 Jan;97(1):3-11. doi: 10.1111/cge.13674. Epub 2019 Nov 24.

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Author information

1
Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.
2
Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
3
Institute of Science and Technology (IST) Austria, Klosterneuburg, Austria.
4
UOC Pediatria, ASST Lariana, Como, Italy.
5
DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Lübeck, Germany.
6
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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.

KEYWORDS:

Cornelia de Lange syndrome; chromatin disorders; cohesinopathies; genotype-phenotype relationship

PMID:
31721174
DOI:
10.1111/cge.13674

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