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 | |
| 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.
Research Areas and Centers
- Research Area: Medical Genetics
