BCL11A
Homo sapiens
Gene Name: B-cell CLL/lymphoma 11A (zinc finger protein)
Aliases: BCL11A-L-S,BCL11A-XL,BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856,BCL11A
Chromosome No: 2
Chromosome Band: 2p16.1
Genetic Category: Rare single gene variant-Multigenic CNV, genetic association--Syndromic/Functional-Multigenic CNV-Syndromic-Functional-Genetic association
Associated Syndrome(s): Dias-Logan syndrome
Aliases: BCL11A-L-S,BCL11A-XL,BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856,BCL11A
Chromosome No: 2
Chromosome Band: 2p16.1
Genetic Category: Rare single gene variant-Multigenic CNV, genetic association--Syndromic/Functional-Multigenic CNV-Syndromic-Functional-Genetic association
Associated Syndrome(s): Dias-Logan syndrome
Summary Statistics:
ASD Reports: 31
Recent Reports: 5
Annotated variants: 83
Associated CNVs: 3
Evidence score: 4
ASD Reports: 31
Recent Reports: 5
Annotated variants: 83
Associated CNVs: 3
Evidence score: 4
| Associated Disorders: |
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Relevance to Autism
A de novo loss-of-function variant in the BCL11A gene has been identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). This gene was also identified in an ASD whole-exome sequencing study and subsequent TADA (transmission and de novo association) analysis as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (De Rubeis et al., 2014).
Molecular Function
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein that functions as a myeloid and B-cell proto-oncogene. BCL11A resides within the dyslexia susceptibility candidate region 3 (DYX3) and has been proposed to be a candidate gene in chromosome 2p16.1-p15 deletion syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia, macrocephaly
Support
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
ASD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
ADHD, DD, ID
Support
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
ID
Childhood apraxia of speech, dyspraxia, hypotonia
Support
The transcription factor BCL11A defines distinct subsets of midbrain dopaminergic neurons
Support
Brain malformations in a patient with deletion 2p16.1: A refinement ofthe phenotype to BCL11A.
DD
Dysmorphic features, brain malformations
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Support
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.
ASD, ID
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
ASD, DD
SCZ
Support
Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes
ASD
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD, DD
Support
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy
Dias-Logan syndrome
DD, ID, epilepsy/seizures, autistic behavior
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ASD, DD, ID
Support
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
DD, ID
Support
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Speech delay, autistic features, motor stereotypie
Hypotonia
Support
Utility of clinical exome sequencing in a complex Emirati pediatric cohort
DD
Support
De novo microdeletion of BCL11A is associated with severe speech sound disorder.
CAS
DD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Psychomotor retardation, movement disorder
Dystonia, chorea
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
DD, ID
ASD, ADHD, epilepsy/seizures
Recent Recommendation
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
ID
Microcephaly
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.
