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

Chromatinopathies: A focus on Cornelia de Lange syndrome

Laura Avagliano  1 , Ilaria Parenti  2   3 , Paolo Grazioli  1 , Elisabetta Di Fede  1 , Chiara Parodi  1 , Milena Mariani  4 , Frank J Kaiser  2   5   6 , Angelo Selicorni  4 , Cristina Gervasini  1 , Valentina Massa  1
Affiliations
Review

Chromatinopathies: A focus on Cornelia de Lange syndrome

Laura Avagliano et al. Clin Genet. 2020 Jan.

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.

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References

REFERENCES

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