Topic: Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

C-terminal binding protein 1 (CTBP1) is a ubiquitously expressed transcriptional co-repressor protein that controls gene expression dependently of metabolic state of the cell. The recurrent mutation in the CTBP1 gene (CTBP1R331W) is associated with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS). Our study aims to elucidate how CTBP1R331W contributes to the neurodevelopmental defects observed in HADDTS. Recent studies have identified aberrant cellular metabolism in the muscle tissue of HADDTS patients, yet the molecular link between metabolic dysfunction and n