TRIP12-associated neurodevelopmental disorder

Targeted gene(s)/phenotype under study :

  • Gene: TRIP12 (OMIM 604506)  

Abstract :

Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD) and variable degree of intellectual disability (ID). Different types of mutations have been described, but it remains a rare cause of ID. After identifying several patients with a mutation in this gene, we wish to increase the number of newly diagnosed patients in order to better delineate the neuropsychological phenotype.

Coordinating clinicians /researchers: 

  • Hilde Van Esch

Institution :

Center for Human Genetics

University Hospitals Leuven,

3000 Leuven, Belgium

Contact : 

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : No
  • Resampling of patients : No
  • Linked to a translational/basic research project? No