Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
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Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genes have been identified in X-linked, autosomal-recessive, or syndromic types of ID, the establishment of an etiological basis remains a difficult task in unspecific, sporadic cases. Just recently, de novo mutations in SYNGAP1, STXBP1, MEF2C, and GRIN2B were reported as relatively common causes of ID in such individuals. On the basis of a patient with severe ID and a 2.5 Mb microdeletion including ARID1B in chromosomal region 6q25, we performed mutational analysis in 887 unselected patients with unexplained ID. In this cohort, we found eight (0.9%) additional de novo nonsense or frameshift mutations predicted to cause haploinsufficiency. Our findings indicate that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and they add to the growing evidence that chromatin-remodeling defects are an important contributor to neurodevelopmental disorders.
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Mutations in six BAF complex components (SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B) have been reported in patients with intellectual disability.
“Interestingly, mutations in patients with intellectual disability have been reported in six components of these complexes (SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B).”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [41]
The phenotype associated with mutations in these BAF component genes ranges from non-syndromic intellectual disability with hypotonia and speech delay to recognizable syndromes such as Coffin-Siris syndrome and Nicolaides-Baraitser syndrome.
“The phenotype associated with mutations in these genes ranges from non-syndromic intellectual disability with hypotonia and speech delay to recognizable syndromes such as the Coffin-Siris syndrome and Nicolaides-Baraitser syndrome.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [41]
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Beyond Mutations: Additional Mechanisms and Implications of SWI/SNF Complex Inactivation
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- Authors
- Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., Zweier, M., Göhring, I., Zink, A. M., Rappold, G., Schröck, E., Wieczorek, D., Riess, O., Engels, H., Rauch, A., & Reis, A.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University of Bonn (DE)
- University of Tübingen (DE)
- Heidelberg University (DE)
- Technische Universität Dresden (DE)
- Essen University Hospital (DE)
- Corresponding author
- Reis, André
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 90
- Issue
- 3
- Pages
- 565-572
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3309205
- OpenAlex
- W2071476740
- Cited by
- 263
- References
- 24
- Citations by year
- 2026: 11 · 2025: 7 · 2024: 16 · 2023: 19 · 2022: 12 · 2021: 31 · 2020: 16 · 2019: 18 · 2018: 18 · 2017: 22 · 2016: 16 · 2015: 25 · 2014: 28 · 2013: 18 · 2012: 4
- FWCI
- 14.45
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- Bundesministerium für Bildung und Forschung (01GS08160)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- ARID1B, haploinsufficiency, intellectual disability, chromatin remodeling, de novo mutations, nonsense mutation, frameshift mutation, neurodevelopmental disorders
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Female, Humans, Male, Intellectual Disability, Middle Aged, Mutation, Transcription Factors, Cohort Studies, Chromatin Assembly and Disassembly, Young Adult, Haploinsufficiency
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