Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities

Frontiers in Pediatrics
Sai YangZhenghui Xiao

Abstract

Background:BCL11B encodes B-cell lymphoma/leukemia 11B, a transcription factor that participates in the differentiation and migration of neurons and lymphocyte cells. De novo mutations of BCL11B have been associated with neurodevelopmental disorder and immunodeficiency, such as immunodeficiency 49 (IMD49) and intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA). However, the pathogenesis of the neurodevelopmental disorder and T-cell deficiency is still mysterious. The strategy to distinguish these two diseases in detail is also unclear. Methods: A patient with unique clinical features was identified. Multiple examinations were applied for evaluation. Whole-exome sequencing (WES) and Sanger sequencing were also performed for the identification of the disease-causing mutation. Results: We reported a 17-month-old girl with intellectual disability, speech impairment, and delay in motor development. She presented with mild dysmorphic facial features and weak functional movement. MRI indicated the abnormal myelination of the white matter. Immunological analysis showed normal levels of RTEs and γδT cells but a deficiency of naive T cells. Genetic sequencing identified a de novo h...Continue Reading

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Datasets Mentioned

BETA
PRJNA659874

Methods Mentioned

BETA
flow cytometry
Assay
PCR

Software Mentioned

MutationTaster2
Chromas Lite
ANNOVAR
GATK Analysis ToolKit
Primer Premier

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