Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder
- Resource Type
- Authors
- Chiara Doneda; Pierangelo Veggiotti; Maria Iascone; Elisa Cattaneo; Enrico Alfei; Luigina Spaccini
- Source
- Neuropediatrics. 53(4)
- Subject
- Male
Patient affected
business.industry
BCL11B
Tumor Suppressor Proteins
Central nervous system
Mutation, Missense
General Medicine
Disease
medicine.disease
Bioinformatics
Phenotype
Repressor Proteins
medicine.anatomical_structure
Hypospadias
Pediatrics, Perinatology and Child Health
Mutation
medicine
Missense mutation
Humans
Related disorder
Neurology (clinical)
business
Child
Transcription Factors
- Language
- ISSN
- 1439-1899
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.