Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

Abstract excerpt

The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, which are associated with various phenotypes of neurodevelopmental disorders, including West syndrome, Pierpont syndrome, and others. However, given the important role of TBL1XR1...

Topics

• Child
• Humans
• Male
• Mutation
• Neurodevelopmental Disorders
• Phenotype
• Receptors, Cytoplasmic and Nuclear