Subscribe to RSS
Download PDF
DOI: 10.1055/s-0041-1736193
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder
Funding This study did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Abstract
We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.
Publication History
Received: 23 April 2021
Accepted: 05 August 2021
Article published online:
29 November 2021
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Prasad M, Balci TB, Prasad C. et al. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype. Eur J Med Genet 2020; 63 (09) 104007
- 2 Lennon MJ, Jones SP, Lovelace MD, Guillemin GJ, Brew BJ. Bcl11b-A critical neurodevelopmental transcription factor-roles in health and disease. Front Cell Neurosci 2017; 11: 89
- 3 Daher MT, Bausero P, Agbulut O, Li Z, Parlakian A. Bcl11b/Ctip2 in skin, tooth, and craniofacial system. Front Cell Dev Biol 2020; 8: 581674
- 4 Lessel D, Gehbauer C, Bramswig NC. et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 2018; 141 (08) 2299-2311
- 5 Yang S, Kang Q, Hou Y. et al. Mutant BCL11B in a patient with a neurodevelopmental disorder and T-cell abnormalities. Front Pediatr 2020; 8: 544894
- 6 Punwani D, Zhang Y, Yu J. et al. Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B. N Engl J Med 2016; 375 (22) 2165-2176
- 7 Arlotta P, Molyneaux BJ, Jabaudon D, Yoshida Y, Macklis JD. Ctip2 controls the differentiation of medium spiny neurons and the establishment of the cellular architecture of the striatum. J Neurosci 2008; 28 (03) 622-632
- 8 Fjodorova M, Louessard M, Li Z. et al. CTIP2-regulated reduction in PKA-dependent DARPP32 phosphorylation in human medium spiny neurons: implications for Huntington disease. Stem Cell Reports 2019; 13 (03) 448-457