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Article

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

American journal of human genetics - 9 Mar 2012

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 22405089
DOI: 10.1016/j.ajhg.2012.02.007
PMCID: PMC3309205

Genes

STXBP1
SYNGAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.PMID 22405089Read ↗

Mutations in ARID2 are associated with intellectual disabilities.Semantic proximity Read ↗

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersSemantic proximity Read ↗

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A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.Semantic proximity Read ↗

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.Semantic proximity Read ↗

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.Semantic proximity Read ↗

<i>ARID1B</i>-mediated disorders: Mutations and possible mechanismsSemantic proximity Read ↗

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Semantic proximity Read ↗

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.Semantic proximity Read ↗

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.Semantic proximity Read ↗

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