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Article

Mutations in ARID2 are associated with intellectual disabilities.

Neurogenetics - 1 Oct 2015

Shang Linshan, Cho Megan T, Retterer Kyle, Folk Leandra, Humberson Jennifer, Rohena Luis, Sidhu Alpa, Saliganan Sheila, Iglesias Alejandro, Vitazka Patrik, Juusola Jane, O'Donnell-Luria Anne H, Shen Yufeng, Chung Wendy K

Abstract excerpt

The etiology of intellectual disabilities (ID) remains unknown for the majority of patients. Due to reduced reproductive fitness in many individuals with ID, de novo mutations account for a significant portion of severe ID. The ATP-dependent SWI/SNF chromatin modifier has been linked with neurodevelopmental disorders including ID and autism. ARID2 is an intrinsic component of polybromo-associated BAF (PBAF), the...

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Source

Identifiers

PMID: 26238514
DOI: 10.1007/s10048-015-0454-0

Genes

ARID2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in ARID2 are associated with intellectual disabilities.PMID 26238514Read ↗

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.Semantic proximity Read ↗

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

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.Semantic proximity Read ↗

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

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

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.Semantic proximity Read ↗

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.Semantic proximity Read ↗

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.Semantic proximity Read ↗

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Semantic proximity Read ↗

Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in KoreaSemantic proximity Read ↗

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

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.Semantic proximity Read ↗

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