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.
BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia / Garone, G.; Capuano, A.; Amodio, D.; Nicita, F.; Travaglini, L.; Graziola, F.; De Benedictis, A.; Frascarelli, F.; Parisi, P.; Pizzi, S.; Tartaglia, M.; Marras, C. E.; Niceta, M.. - In: MOVEMENT DISORDERS CLINICAL PRACTICE. - ISSN 2330-1619. - 11:7(2024), pp. 897-901. [10.1002/mdc3.14084]
BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia
Garone G.
;Nicita F.;Parisi P.;Niceta M.
2024
Abstract
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.File | Dimensione | Formato | |
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Garone G et al- - BCL11B‐Related Dystonia 2024.pdf
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