Cornelia de Lange syndrome： advances in genetic and molecular mechanisms
10.19405/j.cnki.issn1000–1492.2026.05 021
- VernacularTitle:Cornelia de Lange综合征的遗传学与分子机制研究进展
- Author:
Yuqin AN
1
;
Ning CAO
1
;
Fanchao KONG
1
;
Huirong ZHANG
2
Author Information
1. School of Medicine，Shihezi University，Shihezi 832003
2. Department of Pediatrics， The First Affiliated Hospital of Shihezi University， Shihezi 832008
- Publication Type:Review
- Keywords:
Cornelia de Lange syndrome;
cohesin complex;
epigenetics;
signaling pathways;
molecular diagnosis
- From:
Acta Universitatis Medicinalis Anhui
2026;61(5):948-954
- CountryChina
- Language:Chinese
-
Abstract:
Cornelia de Lange syndrome （CdLS） is a rare genetic disorder characterized by multisystem developmental abnormalities， with its core pathogenic mechanism closely linked to dysfunction of the cohesin complex. Integrated multi‑omics evidence revealed that cohesin dysfunction disrupted three‑dimensional chromatin architecture and epigenetic homeostasis， triggered genome‑wide transcriptional dysregulation， and perturbed the regulatory networks of signaling pathways such as Wnt/β‑catenin， TGF‑β/BMP， and Sonic Hedgehog （SHH）. These disturbances collectively drove multisystem phenotypes involving the neurological， cardiovascular and skeletal systems， and laid a theoretical foundation for further understanding of the pathological mechanisms of CdLS and optimizing molecular diagnosis. This review summarized the genetic basis （including epigenetic dysregulation mechanisms） and disruption of key developmental signaling pathways in CdLS，and discussed strategies for optimizing molecular diagnosis.
