What is it about?

We studied individuals with mutations in CHD3. They tended to have a delayed development, especially their language development, and later on various degrees of intellectual disability. Some characteristics were in common between many individuals, such as a larger head, a flat facial profile, eyes more set apart, joint laxity and hernias. We studied the effect of the mutations in vitro. Several decreased the ability of CHD3 to remodel nucleosomes, while others had no in vitro effect or in fact increased the activity.

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Why is it important?

We defined the clinical characteristics of individuals with dysfunctional CHD3, thus allowing us to better know this genetic condition, and also allowing us to start to understand what happens in the cells and eventually in the neurons of such individuals.

Perspectives

We will now try to understand what are the consequences of this CHD3 dysregulation on gene expression and regulation in neurons, and we will continue expanding the phenotypic spectrum of this condition.

Dr Philippe M Campeau
Universite de Montreal

Read the Original

This page is a summary of: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language, Nature Communications, November 2018, Springer Science + Business Media,
DOI: 10.1038/s41467-018-06014-6.
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