Paediatrics Publications
Document Type
Article
Publication Date
10-1-2020
Journal
European Journal of Human Genetics
Volume
28
Issue
10
First Page
1422
Last Page
1431
URL with Digital Object Identifier
https://doi.org/10.1038/s41431-020-0654-4
Abstract
There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Notes
The final published version is available at https://doi.org/10.1038/s41431-020-0654-4.