Mutations in ARID2 are associated with intellectual disabilities.
paper
Cited
Public
Unavailable
- Authors
- 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
- Year
- 2015
- Journal
- Neurogenetics
- PMID
- 26238514
- DOI
- 10.1007/s10048-015-0454-0
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.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. | 2017 | 28981154 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions. | Lemke KI et al. | — | 2026 | → |
| Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome. | Ge Y et al. | — | 2026 | → |
| ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. | Houdayer C et al. | — | 2025 | → |
| Molecular and clinical aspects of histone-related disorders. | Al Ojaimi M et al. | — | 2025 | → |
| The Role of Epigenetics in Manganese Neurotoxicity: An Update with a Focus on Non-Coding RNAs and Histone Modifications. | Aschner M et al. | — | 2025 | → |
| The role of the polybromo-associated BAF complex in development. | Park J et al. | — | 2025 | → |
| ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals. | Schrier Vergano SA | — | 2024 | → |
| Frameshift Variant in <i>ARID2</i> in a Chilean Individual with Coffin-Siris Syndrome Phenotype. | Martin Merlez F et al. | — | 2024 | → |
| Knockout mice with pituitary malformations help identify human cases of hypopituitarism. | Martinez-Mayer J et al. | — | 2024 | → |
| Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up. | Bartek V et al. | — | 2024 | → |
| Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder. | Sleyp Y et al. | — | 2024 | → |
| ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review. | Xia D et al. | — | 2023 | → |
| Associations of DNA Methylation With Behavioral Problems, Gray Matter Volumes, and Negative Life Events Across Adolescence: Evidence From the Longitudinal IMAGEN Study. | Sun Y et al. | — | 2023 | → |
| Cell context-dependent CFI-1/ARID3 functions control neuronal terminal differentiation. | Li Y et al. | — | 2023 | → |
| Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis. | Qureshi HM et al. | — | 2023 | → |
| ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases. | Wang X et al. | — | 2022 | → |
| Clinical and neurodevelopmental outcome of prenatally diagnosed Wormian bones. | Weissbach T et al. | — | 2022 | → |
| Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4. | Liu M et al. | — | 2022 | → |
| Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. | van der Sluijs PJ et al. | — | 2022 | → |
| Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. | Gofin Y et al. | — | 2022 | → |
| PBAF chromatin remodeler complexes that mediate meiotic transitions in mouse. | de Castro RO et al. | — | 2022 | → |
| Reprogramming of the epigenome in neurodevelopmental disorders. | Wilson KD et al. | — | 2022 | → |
| Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. | Kang E et al. | — | 2021 | → |
| Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue. | Janowski M et al. | — | 2021 | → |
| Epigenetics and memory: an expanded role for chromatin dynamics. | Zovkic IB | — | 2021 | → |
| 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. | Lu G et al. | — | 2021 | → |
| Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders. | Pagliaroli L et al. | — | 2021 | → |
| Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in<i>ARID1B</i>-related neurodevelopmental disorders | Pagliaroli L et al. | — | 2021 | — |
| Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. | Li D et al. | — | 2021 | → |
| Neurodevelopmental Disorders Caused by Defective Chromatin Remodeling: Phenotypic Complexity Is Highlighted by a Review of ATRX Function. | Timpano S et al. | — | 2020 | → |
| Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. | Myers L et al. | — | 2020 | → |
| Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. | Gazdagh G et al. | — | 2019 | → |
| Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability. | Khazanchi R et al. | — | 2019 | → |
| Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort. | Callaghan DB et al. | — | 2019 | → |
| Deletion at 12q12 increases the risk of developmental delay and intellectual disability. | Weng Y et al. | — | 2018 | → |
| First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. | Mannino EA et al. | — | 2018 | → |
| Functional haplotypes of ARID4A affect promoter activity and semen quality of bulls. | Yang C et al. | — | 2018 | → |
| Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability. | Pilarowski GO et al. | — | 2018 | → |
| Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. | Bögershausen N et al. | — | 2018 | → |
| Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders. | Sokpor G et al. | — | 2017 | → |
| Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. | Van Paemel R et al. | — | 2017 | → |
| De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. | Berko ER et al. | — | 2017 | → |
| Genomic diagnosis for children with intellectual disability and/or developmental delay. | Bowling KM et al. | — | 2017 | → |
| Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. | Bramswig NC et al. | — | 2017 | → |
| Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. | Marom R et al. | — | 2017 | → |
| Identification and characterization of a novel <i>DGAT1</i> missense mutation associated with congenital diarrhea. | Gluchowski NL et al. | — | 2017 | → |
| Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. | Mathies LD et al. | — | 2017 | → |
| An update on the comorbidity of ADHD and ASD: a focus on clinical management. | Antshel KM et al. | — | 2016 | → |
| Clinical application of whole-exome sequencing across clinical indications. | Retterer K et al. | — | 2016 | → |
| Deep Genetic Connection Between Cancer and Developmental Disorders. | Qi H et al. | — | 2016 | → |
| De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. | Shang L et al. | — | 2016 | → |
| Molecular subtyping and improved treatment of neurodevelopmental disease. | Stessman HA et al. | — | 2016 | → |