BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia

BCL11B encodes for a bifunctional protein which acts both as a transcriptional repressor and transactivator, involved in dermis, dentition, immune and nervous system development.1 Heterozygous BCL11B mutations are associated with a neurodevelopmental syndrome featuring intellectual disability (ID), dysmorphic facies, and T cell abnormalities.2 Recent case reports suggested that a complex movement disorder (MD) including spasticity and dystonia can be part of the phenotypic spectrum.3–6 Here, we report on a young girl with childhood-onset generalized dystonia and ID carrying a de novo, likely pathogenic BCL11B variant.