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[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review]
1Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.
Insights
A BCL11B gene mutation causes neurodevelopmental and immune system disorders in a child. This genetic mutation is crucial for both nervous and immune system development.
Area of Science:
- Genetics and Immunology
- Neurodevelopmental Disorders
- BCL11B Gene Function
Background:
- Neurodevelopmental disorders can stem from complex genetic and immunological factors.
- The BCL11B gene plays a critical role in the development of the nervous and immune systems.
- Understanding BCL11B mutations is key to diagnosing and managing related disorders.
Observation:
- A pediatric case presented with neurodevelopmental retardation, facial dysmorphisms, and delayed development.
- Laboratory tests revealed altered lymphocyte subsets (reduced B cells, increased T cells) but normal immunoglobulin levels.
- Genetic analysis identified a de novo heterozygous frameshift mutation in the BCL11B gene (c.1887_c.1893delCGGCGGG).
Findings:
- The identified BCL11B mutation is associated with significant neurodevelopmental impairments, including delayed language and motor skills.
- Facial dysmorphisms such as hypertelorism and small palpebral fissures were observed, consistent with BCL11B-related syndromes.
- While overt immunodeficiency was not present in this case, subtle immunological abnormalities and a review of literature indicate a link between BCL11B mutations and immune system dysfunction.
Implications:
- This case highlights the essential role of BCL11B in human development, affecting both neurological and immunological functions.
- Early genetic testing for BCL11B mutations is crucial for children presenting with developmental delays and characteristic facial features.
- Further research into BCL11B's molecular pathways can lead to targeted therapies for these complex disorders.
Abstract:
Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10(-3)/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10(-3)/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions: BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.
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