Cited by 271Genetics and Neurodevelopmental DisordersChromatin Remodeling and CancerGenomics and Rare Diseases

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

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Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André·2012·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2012.02.007PMC PMC3309205

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Abstract

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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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: Hoyer, Juliane
Ekici, Arif B.
Popp, Bernt
Zweier, Christiane
Wiesener, Antje
Wohlleber, Eva
Dufke, Andreas
Zweier, Markus
Rappold, Gudrun
Schröck, Evelin
Wieczorek, Dagmar
Riess, Olaf
Engels, Hartmut
Rauch, Anita
Reis, André
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)
DOI: 10.1016/j.ajhg.2012.02.007
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 505 d)
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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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

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