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A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report
Yonglin Yu1, Xiaoyi Jia1, Hongwei Yin1
1Department of Rehabilitation, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Insights
A BCL11B gene variant caused neurodevelopmental disorders in a male patient, including developmental delay and cerebral palsy. This finding expands the known spectrum of BCL11B-related conditions.
Area of Science:
- Genetics
- Neuroscience
- Immunology
Background:
- BCL11B is a transcription factor crucial for immune and neural system development.
- BCL11B variants are linked to neurodevelopmental disorders and immunodeficiency.
Observation:
- Whole-exome sequencing identified a novel frameshift variant (c.1206delG) in the BCL11B gene.
- A male patient presented with developmental delay and cerebral palsy associated with this BCL11B variant.
Findings:
- The identified BCL11B variant leads to frameshift truncation.
- Clinical and neuroimaging data were analyzed and compared with previously reported cases.
Implications:
- This case expands the known spectrum of BCL11B gene variants and associated neurodevelopmental abnormalities.
- Further research into BCL11B function can elucidate mechanisms of neurodevelopmental disorders.
Background:
B-Cell CLL/Lymphoma 11B (BCL11B) is a C2 H2 zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of BCL11B have been found in patients with neurodevelopmental disorders and immunodeficiency.
Materials And Methods:
Whole-exome sequencing (WES) and clinical examinations were performed to identify the etiology of our patient. A variant in the BCL11B gene, NM_138576.4: c.1206delG (p.Phe403Serfs*2) was found and led to frameshift truncation.
Results:
We reported a male patient with developmental delay and cerebral palsy who carried the BCL11B variant. The detailed clinical features, such as brain structure and immune detection, were described and reviewed in comparison to previous patients.
Conclusions:
The BCL11B-related neurodevelopmental disorders are rare, and only 17 variants in 25 patients have been found to date. Our report expands the variants spectrum of BCL11B and increases the case of neurodevelopmental abnormalities.
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