Topic: CHARGE syndrome

Chromatin remodelling plays an essential role in development, for instance by controlling gene expression during cell differentiation. Mutations of chromatin remodellers are often implicated in developmental diseases such as CHARGE syndrome, in which a heterozygous mutation of the chromatin remodeller CHD7 is the major driver of the disease. To investigate the role of Chd7 during brain development, we used a dorsal telencephalon-specific Chd7 loss-of-function mouse model and discovered Chd7 acts as a multi-lineage coordinator. Histological analysis of Chd7 mutant mice shows that upon ablation

CHARGE syndrome (CS) is a rare genetic disease, mainly due to mutations in the chromatin remodeler gene CHD7 and characterized by multiple neuronal dysfunctions and malformations of neural-crest derived organs, for which no pharmacological treatments are available. CS high phenotypic variability could be explained by mutations in genes with an epistatic relationship to CHD7, that may alter the expressivity of disease traits. In this context, recent evidence revealed that genes encoding semaphorins (SEMA) and their receptors might be good candidates as CHD7 genetic interactors. Thus, we generat