Floppy baby syndrome as the first presentation of HADDTS associated with CTBP1 mutation.

Abstract excerpt

The CtBP1 protein is a transcriptional regulator that interacts with chromatin-modifying enzymes and modulates gene expression in various cellular pathways. The dominant negative de novo molecular variant c.1024C>T, p.Arg342Trp in the CTBP1 gene is associated with hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS). Here we present a male patient with a recurrent hotspot mutation...

Topics

• Humans
• Male
• DNA-Binding Proteins
• Alcohol Oxidoreductases
• Mutation
• Developmental Disabilities