Article
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
Molecular genetics & genomic medicine - 1 Jan 2024
Mir Atefeh, Song Yongjun, Lee Hane, Nadeali Zakiye, Tabatabaiefar Mohammad Amin
Abstract excerpt
BACKGROUND: The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo...
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