ArticleAmerican journal of medical genetics. Part A2018
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 58 citations in OpenAlex.
- Longitudinal Study of Language of Twins at Ages 9 and 14 Years: Twinning, Zygosity, and Heritability.Journal of speech, language, and hearing research : JSLHR · 2026Article
- Bcl11a deficiency in cerebellar Purkinje cells causes ataxia and autistic-like behavior by altering Vav3.Molecular psychiatry · 2026Article
- BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Dias-Logan syndrome with aSAGE open medical case reports · 2025Article
- The BCL11A transcription factor stimulates the enzymatic activities of the OGG1 DNA glycosylase.Biological chemistry · 2024Article
- Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.American journal of speech-language pathology · 2023Article
- Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension.Frontiers in cardiovascular medicine · 2023Article
- The DNA repair function of BCL11A suppresses senescence and promotes continued proliferation of triple-negative breast cancer cells.NAR cancer · 2022Article
- Transcription factors Bcl11a and Bcl11b are required for the production and differentiation of cortical projection neurons.Cerebral cortex (New York, N.Y. : 1991) · 2022Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- A novelFrontiers in molecular neuroscience · 2022Article
- Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.PLoS genetics · 2021Article
- In Silico Analysis of Possible Interaction between Host Genomic Transcription Factors (TFs) and Zika Virus (ZikaSPH2015) Strain with Combinatorial Gene Regulation; Virus Versus Host-The Game Reloaded.Pathogens (Basel, Switzerland) · 2021Article
- A Novel de novo Frameshift Mutation in theMolecular syndromology · 2020Article
- Birdsong as a window into language origins and evolutionary neuroscience.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Review
- Bcl11 Transcription Factors Regulate Cortical Development and Function.Frontiers in molecular neuroscience · 2020Review
- BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases.Bioscience reports · 2019Review
- BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.American journal of medical genetics. Part A · 2018Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16.1 deletion encompassing the entire BCL11A gene and displaying a similar phenotype, we characterize in depth how BCL11A is involved in clinical aspects of language development and oral praxis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.