ArticleNeurogenetics2015
Mutations in ARID2 are associated with intellectual disabilities.
Article in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 80 citations in OpenAlex.
- Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients.Orphanet journal of rare diseases · 2026Article
- Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.Acta neuropathologica communications · 2026Article
- Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.European journal of pediatrics · 2026Article
- ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.European journal of human genetics : EJHG · 2025Article
- The Role of Epigenetics in Manganese Neurotoxicity: An Update with a Focus on Non-Coding RNAs and Histone Modifications.Neurochemical research · 2025Review
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- The role of the polybromo-associated BAF complex in development.Biochemistry and cell biology = Biochimie et biologie cellulaire · 2025Review
- Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.Children (Basel, Switzerland) · 2024Article
- Frameshift Variant inJournal of pediatric genetics · 2024Article
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
- Cell context-dependent CFI-1/ARID3 functions control neuronal terminal differentiation.Cell reports · 2023Article
- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- PBAF chromatin remodeler complexes that mediate meiotic transitions in mouse.Development (Cambridge, England) · 2022Article
- Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2022Review
- Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.Genes & genomics · 2022Article
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.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
- ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases.Frontiers in pediatrics · 2022Article
- Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.BMC medical genomics · 2021Article
- Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.Nature communications · 2021Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 SWI/SNF subcomplex. In this study, we used clinical whole exome sequencing (WES) in proband-parent-trios to identify the etiology of ID. We identified four independent, novel, loss of function variants in ARID2 gene in four patients, three of which were confirmed to be de novo. The patients all have ID and share other clinical characteristics including attention deficit hyperactivity disorder, short stature, dysmorphic facial features, and Wormian bones. All four novel variants are predicted to lead to a premature termination with the loss of the two conservative zinc finger motifs. This is the first report of mutations in ARID2 associated with developmental delay and ID.
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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 Socratic graph.