ArticleHuman mutation2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- GBAF, a small BAF sub-complex with big implications: a systematic review.Epigenetics & chromatin · 2020Pooled it
- Trial
- Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.The Journal of clinical investigation · 2026Article
- Defining Pseudo-Haplotype Analysis Reveals Multi-Gene Genetic Pattern Across BAF Chromatin Remodeling Complexes.bioRxiv : the preprint server for biology · 2026Article
- SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System.Molecular neurobiology · 2025Review
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.Nature genetics · 2023Article
- Identification of mitophagy-related biomarkers and immune infiltration in major depressive disorder.BMC genomics · 2023Article
- Leveraging gene co-regulation to identify gene sets enriched for disease heritability.American journal of human genetics · 2022Article
- Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- ACTL6A knockdown inhibits cell migration by suppressing the AKT signaling pathway and enhances the sensitivity of glioma cells to temozolomide.Experimental and therapeutic medicine · 2021Article
- Case Report: BAF-Opathies/SSRIDDs Due to aFrontiers in cardiovascular medicine · 2021Article
- Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Prognostic role of ACTL10 in Cytogenetic Normal Acute Myeloid Leukemia.Journal of Cancer · 2020Article
- Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development.International journal of molecular sciences · 2019Article
- A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.American journal of human genetics · 2019Article
- Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of theDisease models & mechanisms · 2019Article
- Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.American journal of human genetics · 2019Article
- Article
Corrections and comments
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Authors and funding
24 authors at 11 institutions in 3 countries.
Funding
Abstract
Pathogenic variants in genes encoding components of the BRG1-associated factor (BAF) chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1. A third subject has a splicing variant that creates an in-frame deletion. Our findings suggest that the variants identified in our subjects may have a deleterious effect on the function of the protein by disturbing the integrity of the BAF complex. Thus, ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder.
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Registered trials
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.