Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,...Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,including NIPBL and MAU2,are associated with CdLS,all encoding components or partners of the cohesin protein complex.Cohesins play a central role in gene expression regulation by organizing chromatin and modulating transcription.2 CdLS is classified as a transcriptomopathy due to dysregulated transcription resulting from pathogenic variants in cohesin-related genes.NIPBL mutations are the most common cause of CdLS,impairing cohesin loading onto DNA.展开更多
基金the Institutional Review Board of the Rouen University Hospital(CERDE notification E2023-65).
文摘Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,including NIPBL and MAU2,are associated with CdLS,all encoding components or partners of the cohesin protein complex.Cohesins play a central role in gene expression regulation by organizing chromatin and modulating transcription.2 CdLS is classified as a transcriptomopathy due to dysregulated transcription resulting from pathogenic variants in cohesin-related genes.NIPBL mutations are the most common cause of CdLS,impairing cohesin loading onto DNA.
