Abstract 2072 Colocalization of Dysregulated Genes by CTBP1 Mutation in the Brain

C-terminal binding proteins (CtBPs) play essential roles during early development and are highly conserved among vertebrates and invertebrates. Vertebrate genomes encode two closely related proteins, CtBP1 and CtBP2. CtBPs dimerize and function predominantly as transcriptional corepressors by targeting various chromatin-modifying factors to the promoter-bound repressors. Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defects Syndrome (HADDTS) is a recently discovered neurodevelopmental disorder resulting from CTBP1 mutation.