White-Kernohan syndrome

Definition:

White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease. DDB1 is part of the CUL4-DDB1 ubiquitin E3 ligase complex, which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction.

References:

[1]. Susan M White, et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet. 2021 Apr 1;108(4):749-756. [Content Brief]

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