A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects

Original research article by D.B. Beck et al. (2016).

Read the abstract here.

The researchers performed whole exome sequencing on people affected with neurodevelopmental disorders, and their parents. They found four people with a change in the CTBP1 gene. The CTBP1 gene has a critical role in regulating and coordinating development. The four people exhibited similar clinical features, suggesting that CTBP1 may be linked to these features. The four people, who ranged in age from 8 to 20 years old, had developmental delay and intellectual disability, low muscle tone, issues with muscle coordination, difficulty gaining weight, and dental defects. The CTBP1 gene is not currently linked to any certain diagnosis.

Clinical Features Observed in Individuals with CTBP1 Gene Changes
Neurodevelopmental Features
  • Global developmental delay
  • Intellectual disability
  • Motor function delay
Physical Features
  • Slow weight gain
  • Low muscle tone; muscle weakness
  • Ataxia (problems walking, standing, etc.)
  • Some differences in facial features observed
Dental Features
  • Enamel defects
  • Discoloration
  • Spacing of teeth