Reviews
The ARID1B phenotype: What we have learned so far
… It is clear that that ARID1B haploinsufficiency has phenotypic consequences: However, … determine how severely affected a patient with ARID1B haploinsufficiency will be. We considered …
Publication: …, ARID1B‐CSS consortium - American Journal of …, 2014 - Wiley Online Library
The dataset provided lacks any empirical evidence to effectively summarize the role of ARID1B haploinsufficiency in human disease. Without specific case-level genetic evidence, including patient mutations and functional studies, it is not possible to offer a synthesized critique or overview of the gene's implications in the disease phenotype. Therefore, conclusive remarks on clinical features associated with ARID1B haploinsufficiency, individual patient cases, and functional study outcomes cannot be reported. Further research and data compilation are required to assess the role of ARID1B and substantiate its contribution to disease etiology.
Disruption of the ARID1B and ADAMTS6 loci due to at(5;6)(q12.3;q25.3) in a patient with developmental delay
… patient with ARID1B haploinsufficiency, presenting with a very mild phenotype that further underscores the phenotypic heterogeneity of ARID1B … with ARID1B haploinsufficiency are …
Publication: T Malli, HC Duba, M Erdel, R Marschon… - American Journal of …, 2014 - Wiley Online Library
The dataset provides evidence of the pathogenic role of ARID1B haploinsufficiency in human disease, supported by a description of a male patient presenting with developmental delay, speech impairment, mild dysmorphic features, and borderline intellectual disability. The identified mutation in this patient is a de novo balanced translocation, t(5;6)(q11;q25.3), leading to disruption of ARID1B at the breakpoint, with potential null or loss-of-function consequences, as confirmed by parental testing. This mutation exemplifies the case-level evidence suggesting that haploinsufficiency of ARID1B is a significant factor in the clinical phenotype of individuals affected by the associated disease. Furthermore, the synthesis of this case with a review of literature and clinical observations substantiates the association of ARID1B haploinsufficiency with a spectrum of disorders including intellectual disabilities, corpus callosum abnormalities, Coffin-Siris syndrome, and autism. These functional studies collectively contribute to our understanding of the critical role ARID1B plays in neurodevelopment and associated pathologies.
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
… The patient had ACC, intellectual disability, speech impairment, ASD, and mild dysmorphic … associated with haploinsufficiency of ARID1B, we compared the translocation patient to …
Publication: C Halgren, S Kjaergaard, M Bak, C Hansen… - Clinical …, 2012 - Wiley Online Library
This dataset presents evidence for the haploinsufficiency of the ARID1B gene in patients with neurodevelopmental disorders. Four key cases include a 'translocation patient' with a chromosome 6 breakpoint truncating ARID1B, 'Patient 1' with a de novo balanced reciprocal translocation, 'Patient 2' with a 0.2-Mb intragenic deletion, and 'patients 3 and 4' with deletions confined to ARID1B. Each case manifests intellectual disability, severe speech impairment, and varying dysmorphic features. Inheritance was tested for the translocation patient and Patient 1, establishing de novo occurrence of the mutations. Clinical features of ARID1B-associated haploinsufficiency frequently involved corpus callosum abnormalities, intellectual disability, autism spectrum disorder, hypotonia, and feeding problems in infancy. Supporting these clinical correlations, functional studies including Quantitative polymerase chain reaction (Q-PCR) confirmed the gene-disease association with differential expression of ARID1B highlighting the functional impact of haploinsufficiency on neurodevelopmental phenotypes.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
… patient-derived cells that alterations in cell cycle contribute to the underlying pathogenesis of syndromes associated with ARID1B haploinsufficiency… report ARID1B haploinsufficiency in …
Publication: JCH Sim, SM White, E Fitzpatrick, GR Wilson… - Orphanet journal of rare …, 2014 - Springer
This study profiles ARID1B haploinsufficiency in six patients presenting with a spectrum of clinical features such as intellectual disability, distinct facial dysmorphism, plantar fat pads, and speech impairments. Heterozygous deletions, including a ~1.2 Mb deletion at 6q25.3 (encompassing ARID1B), and frameshift as well as nonsense mutations like NM_020732.3(ARID1B):c.3208_3209delAA and NM_020732.3(ARID1B):c.2941C>T were identified across patients, often originating de novo. Inheritance was tested and confirmed de novo status in five instances; however, inheritance information was not available for the initial patient discussed. Functional analyses supported haploinsufficiency as a significant disease mechanism, demonstrating reduced cell cycle re-entry in patient-derived fibroblasts upon serum starvation, significantly reduced ARID1B transcription levels, and perturbed cell cycle regulation. Collectively, these results underscore the critical role of ARID1B function in neurodevelopmental disorders and affirm the genetic evidence for ARID1B haploinsufficiency in pathogenesis.
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
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.
Publication: The American Journal of Human Genetics
This dataset provides case-level evidence of haploinsufficiency in the ARID1B gene across nine patients exhibiting a spectrum of clinical phenotypes including severe developmental delay, intellectual disability, and muscular hypotonia. Each patient carried a heterozygous mutation predicted or proven to lead to loss of function, such as deletions, duplications creating null alleles, and nonsense or frameshift mutations. Mutations noted include a 2.5 Mb deletion, duplication of exons 5 and 6, and nonsense mutations like c.3919C>T and c.4038T>A. Frameshift mutations recorded include c.6463_6473del and c.1114dupC among others. Inheritance tests confirmed all these mutations occurred de novo. The clinical features strongly associated with ARID1B haploinsufficiency are consistent across cases, particularly intellectual disability and developmental delays. Functional studies including transcript analysis via RT-PCR supported the hypothesis that variants such as c.4110G>A induce exon skipping, leading to frameshifts and premature stop codons, confirming their role in disease phenotypes. Additionally, clinical observations underscore that the symptoms overlap between patients with point mutations and those with large genomic deletions, further validating ARID1B haploinsufficiency as the causal factor in the observed clinical manifestations.
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
… ARID1B in patient 3 and an 11 bp deletion in exon 20 of ARID1B (NM_020732.3) in patient 4… loss of function, we hypothesized that haploinsufficiency of ARID1B would underlie the ID in …
Publication: J Hoyer, AB Ekici, S Endele, B Popp, C Zweier… - The American Journal of …, 2012 - cell.com
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
… The patient had ACC, intellectual disability, speech impairment, ASD, and mild dysmorphic … associated with haploinsufficiency of ARID1B, we compared the translocation patient to …
Publication: C Halgren, S Kjaergaard, M Bak, C Hansen… - Clinical …, 2012 - Wiley Online Library
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
… patient-derived cells that alterations in cell cycle contribute to the underlying pathogenesis of syndromes associated with ARID1B haploinsufficiency… report ARID1B haploinsufficiency in …
Publication: JCH Sim, SM White, E Fitzpatrick, GR Wilson… - Orphanet journal of rare …, 2014 - Springer
Disruption of the ARID1B and ADAMTS6 loci due to at(5;6)(q12.3;q25.3) in a patient with developmental delay
… patient with ARID1B haploinsufficiency, presenting with a very mild phenotype that further underscores the phenotypic heterogeneity of ARID1B … with ARID1B haploinsufficiency are …
Publication: T Malli, HC Duba, M Erdel, R Marschon… - American Journal of …, 2014 - Wiley Online Library
ARID1B-mediated disorders: mutations and possible mechanisms
… Recent research has indicated that alterations in the cell cycle contribute to the underlying pathogenesis of syndromes associated with ARID1B haploinsufficiency in fibroblasts derived …
Publication: JCH Sim, SM White, PJ Lockhart - Intractable & Rare Diseases …, 2015 - jstage.jst.go.jp
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole …
… a patient with haploinsufficiency of ARID1B caused by a … of ARID1B. All of the three abnormalities were acquired spontaneously. ARID1B gene was the critical genetic factor for ARID1B-…
Publication: G Lu, Q Peng, L Wu, J Zhang, L Ma - BMC Medical Genomics, 2021 - Springer
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders
… In 2010, a patient that presented with agenesis of the corpus callosum, intellectual disability (ID) and features of autism spectrum disorder (ASD) was found to harbor a mutation …
Publication: JJ Moffat, AL Smith, EM Jung, M Ka, WY Kim - Molecular psychiatry, 2022 - nature.com
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
… have been identified as key features of ARID1B haploinsufficiency [Santen et al., 2014; Sim … haploinsufficiency of ARID1B and its upstream region. Deafness was observed in our patient …
Publication: L Ronzoni, F Tagliaferri, A Tucci… - American Journal of …, 2016 - Wiley Online Library
The ARID1B phenotype: What we have learned so far
… It is clear that that ARID1B haploinsufficiency has phenotypic consequences: However, … determine how severely affected a patient with ARID1B haploinsufficiency will be. We considered …
Publication: …, ARID1B‐CSS consortium - American Journal of …, 2014 - Wiley Online Library
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
… patient and fetuses in this report are provided in Supplementary Table 1. For the first patient, … The evolutionary conserved SWI/SNF subunits ARID1A and ARID1B are key modulators of …
Publication: A Slavotinek, M Lefebvre, AC Brehin, C Thauvin… - European journal of …, 2022 - Elsevier
Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
… In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a … a patient with a novel mutation in one of the components of the BAF complex—the ARID1B …
Publication: MA Vals, E Oiglane-Shlik, M Noukas, R Shor… - European Journal of …, 2014 - nature.com
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
… 2T>C variant of ARID1B detected in our patient was … Sanger sequencing of the patient's cDNA revealed that this variant … It is known that haploinsufficiency of ARID1B leads to the …
Publication: L Pranckėnienė, E Siavrienė… - Molecular genetics & …, 2019 - Wiley Online Library
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice
… Using Arid1b heterozygous knockout mice, we investigated whether Arid1b haploinsufficiency … This study demonstrates that Arid1b haploinsufficiency leads to ASD-like phenotypes in …
Publication: M Shibutani, T Horii, H Shoji, S Morita… - International journal of …, 2017 - mdpi.com
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
… (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-… Based on our patient cohort it seems unlikely that pathogenic …
Publication: PJ van der Sluijs, S Jansen, SA Vergano… - Genetics in …, 2019 - nature.com
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
… a mother and her son, with haploinsufficiency of the ARID1B gene due to a novel frameshift … Interestingly, a recent study described a patient with CSS with a truncating ARID1B mutation …
Publication: JA Smith, KR Holden, MJ Friez… - American Journal of …, 2016 - Wiley Online Library
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders
… All of these carried de novo ASXL1 LOF-mutations; so far, no single BOS patient with an inherited … Given the 16 LOF variants in the ARID1B gene identified in 60.706 ExAC controls, this …
Publication: HH Ropers, T Wienker - European journal of medical genetics, 2015 - Elsevier
… from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental …
… Here, we leveraged ARID1B +/− Coffin-Siris patient-derived iPSCs and modeled cranial neural … complex compensated for ARID1B haploinsufficiency. As mentioned above, ARID1A and …
Publication: L Pagliaroli, P Porazzi, AT Curtis, C Scopa… - Nature …, 2021 - nature.com
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
… patient (patient A) carries a 658 kb de novo deletion at 6q25.3 which affected only ARID1B; the second patient (patient B… q25.3 which overlaps with the deletion in Patient 1. The height Z-…
Publication: Y Yu, RE Yao, L Wang, Y Fan, X Huang, J Hirschhorn… - BMC genomics, 2015 - Springer
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
… We found a high proportion of variants in ARID1B (68%). All … to classify variants in ARID1A, ARID1B, and SMARCB1 reliably as … We therefore decided not to include this patient in the …
Publication: GWE Santen, E Aten, AT Vulto‐van Silfhout… - Human …, 2013 - Wiley Online Library
First Korean case of Coffin-Siris syndrome with a novel frameshift ARID1B mutation
… ARID1B haploinsufficiency may be due to variations in the reduction of ARID1B levels. [16]. … Though our patient exhibited some features characteristic of CSS, such as global …
Publication: BL Lee, SH Oh, KR Jun, YJ Hur, JE Lee… - Annals of Clinical & …, 2020 - Assoc Clin Scientists
ARID1B-related disorder
… If the ARID1B pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the pathogenic variant most likely occurred de novo in the proband. …
Publication: SA Vergano, PJ van der Sluijs, G Santen - 2019 - europepmc.org
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
… , and no specific gene hotspots have been suggested to cause haploinsufficiency 4,7,8 . … of proband in this study and previously reported individuals with ARID1B variants and CSS. …
Publication: V Sofronova, Y Fukushima, M Masuno, M Naka… - Human Genome …, 2022 - nature.com
Coffin-Siris syndrome with cafe-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
… ARID1B could modify the phenotype and determine how severely affected a patient with ARID1B haploinsufficiency … We thank the proband and her family for participating in this study. …
Publication: FM Sonmez, E Uctepe, M Gunduz… - Intractable & Rare …, 2016 - jstage.jst.go.jp
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
… ARID1B is one of the most frequently … the ARID1B gene seem to be lacking pathogenic variants, loss-of-function variants in those regions may not lead to ARID1B haploinsufficiency and …
Publication: PJ van der Sluijs, M Alders, AJM Dingemans… - Genes, 2021 - mdpi.com
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings
… Peripheral blood from the proband was collected in a sodium heparin vacutainer tube, … This report provides additional perspectives regarding ARID1B haploinsufficiency and its …
Publication: CM Seabra, N Szoko, S Erdin… - American Journal of …, 2017 - Wiley Online Library
Three novel ARID1B variations in coffin-Siris syndrome patients
… which suggest that haploinsufficiency is the mechanism resulting in the phenotype.[ 10 , 11 ] … representations consistent with CSS and variations in ARID1B. In adding these data to the …
Publication: Y Tan, J Chen, Y Li, Y Liu, Y Wang, S Xia, L Chen… - Neurology …, 2022 - journals.lww.com
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies
… Genomic DNA of the proband was extracted from peripheral … We found three de novo ARID1B variants in three unrelated … the BAF complex, and haploinsufficiency of BCL11A is closely …
Publication: S Miyamoto, M Kato, T Hiraide, T Shiohama… - Journal of Human …, 2021 - nature.com
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant
… ARID1B haploinsufficiency could result from missense variants, although variants within … were not observed in the proband, full lips were consistent with ARID1B-CSS, adding Bayesian …
Publication: C Forwood, K Ashton, Y Zhu, F Zhang… - American Journal of …, 2023 - Wiley Online Library
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
… ) with the exceptions of a proband from a family consistent with … point variants within single genes (ARID1B, EHMT1, NFIX, ZEB2… and transcripts studies support haploinsufficiency as the …
Publication: M Chevarin, Y Duffourd, RA Barnard… - Journal of medical …, 2020 - jmg.bmj.com
Mutations in ARID2 are associated with intellectual disabilities
… whole exome sequencing (WES) in proband-parent-trios to … ARID1B (BAF250b) [10], while ARID2 (p200; BAF200) is a subunit of the PBAF complexes [11]. Haploinsufficiency of ARID1B …
Publication: L Shang, MT Cho, K Retterer, L Folk, J Humberson… - Neurogenetics, 2015 - Springer
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B
… Here, we present a novel ARID1B mutation detected by targeted gene panel sequencing in … Sanger sequencing revealed the presence of the mutation in the proband, his parents and …
Publication: H Park, MS Kim, J Kim, JH Jang, JM Choi… - Neuroendocrinology …, 2020 - nel.edu
HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation
… Haploinsufficiency of ARID1B is associated with a broad … the ‘ARID1B phenotype’ umbrella, because of the link between … Sagittal weighted image of the proband’s MRI brain scan …
Publication: M Wafik, U Kini - Clinical Dysmorphology, 2018 - journals.lww.com
Growth Hormone Deficiency due to p.(Gln467Argfs* 64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
… testing in our patient are consistent with the diagnosis of ARID1B-related Coffin-Siris syndrome (ARID1B-CSS). Pathogenic variants in ARID1B are one of the most frequent causes of …
Publication: S Mouskou, S Leka-Emiri, A Korona… - Molecular …, 2022 - karger.com
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for …
… Trio and proband ES were performed as previously … The lower ARID1B contribution (39%) in our study is likely … clinical cohort suggested that haploinsufficiency of SMARCC1 might be …
Publication: CA Chen, J Lattier, W Zhu, J Rosenfeld, L Wang… - Genetics in …, 2022 - Elsevier
Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
… , SMARCE1 (2%), ARID1A (7%), ARID1B (65%), and PHF6 (2%). We review genotype-phenotype correlation of all previously reported patients with mutations in SMARCB1, SMARCA4, …
Publication: T Kosho, N Okamoto… - American Journal of …, 2014 - Wiley Online Library
Genotype-phenotype correlations in 208 individuals with Coffin-Siris syndrome
… of this phenotype in ARID1B (residual = −1.39) and ARID2 (residual = −1.26) patients. For the … phenotype, there is a trend towards the enrichment of this phenotype in ARID1B patients (…
Publication: A Vasko, TG Drivas, SA Schrier Vergano - Genes, 2021 - mdpi.com
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
… Disruption of ARID1B therefore seems to be the main driver of the observed CSS phenotype, … On the basis of these findings, we conclude that haploinsufficiency of ARID1B is likely to be …
Publication: GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen… - Nature …, 2012 - nature.com
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
… In summary, we have developed the first mouse model of Arid1b haploinsufficiency, one of the … how genotype relates to phenotype in diseases involving ARID1B. Some children with …
Publication: C Celen, JC Chuang, X Luo, N Nijem, AK Walker… - Elife, 2017 - elifesciences.org
Mutational landscapes and phenotypic spectrum of SWI/SNF-related intellectual disability disorders
… We will also outline important features to identify the ARID1B-related phenotype in the … haploinsufficiency, while ranks >90% indicate a gene is very unlikely to exhibit haploinsufficiency. …
Publication: N Bögershausen, B Wollnik - Frontiers in molecular neuroscience, 2018 - frontiersin.org
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
… The index patient was born at 36 weeks of gestation by Cesarean section with a weight of … The tentative diagnosis of CSS was made, but ARID1B sequencing costs were not going to be …
Publication: NC Bramswig, O Caluseriu, HJ Lüdecke, FV Bolduc… - Human genetics, 2017 - Springer
ARID1B as a potential therapeutic target for ARID1A-mutant ovarian clear cell carcinoma
… of ARID1B in OCCC by immunohistochemical analysis of 53 OCCC patient samples and loss-of-function … We also examined whether ARID1B could be a therapeutic target or prognostic …
Publication: E Sato, K Nakayama, S Razia, K Nakamura… - International journal of …, 2018 - mdpi.com
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
… ARID2 loss-of-function is associated with a rare genetic … complex, such as ARID1A, ARID1B, and SMARCA2, are mutated … a patient with a novel disease-causing ARID2 loss-of-function …
Publication: R Khazanchi, CA Ronspies, SC Smith… - American Journal of …, 2019 - Wiley Online Library
Significant contribution of intragenic deletions to ARID1B mutation spectrum
… of exons 1–2 in one patient (case 2) and of exon 16 in another patient (case 3), explaining … have a loss-of-function effect on ARID1B protein. Our findings complete the ARID1B mutation …
Publication: S Gorokhova, J Mortreux, A Afenjar, T Attie-Bitach… - Genetics in …, 2019 - nature.com
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
… deletion of SMARCB1 in one CSS patient and we thoroughly … Forty-eight ARID1B variants were found in our CSS cohort (… indicating that loss-of-function (LoF) changes in ARID1B cause …
Publication: F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik… - Journal of human …, 2019 - nature.com
ARID1A loss-of-function induces CpG island methylator phenotype
… characteristics, such as patient prognosis and susceptibility … The redundant function of ARID1A and ARID1B dependent upon … The SWI/SNF loss-of-function may have led to increased …
Publication: H Yamada, H Takeshima, R Fujiki, S Yamashita… - Cancer Letters, 2022 - Elsevier
… HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
… of patient 1 (P1, at age of 16 years), patient 2 (P2, at age of 17 years), and … loss of function mutation in a known ID gene could be detected, although the whole coding region of ARID1B …
Publication: M Zweier, MM Peippo, M Pöyhönen… - American journal of …, 2017 - ncbi.nlm.nih.gov
ARID1A mutations and expression loss in non-small cell lung carcinomas: clinicopathologic and molecular analysis
… variants were classified as loss-of-function (LOF) mutations. In … harboring mutations in ARID1A, ARID1B, ARID2, or PBRM1 (… enable better patient selection for personalized treatment. …
Publication: YP Hung, A Redig, JL Hornick, LM Sholl - Modern Pathology, 2020 - Elsevier
Protein destabilization underlies pathogenic missense mutations in ARID1B
… In ARID1A-deficient cancers, ARID1B-containing complex sustains BAF complex activity 5,6 … on ARID1B (ref. ). While most CSS mutations in ARID1B are loss of function nonsense …
Publication: F Mermet-Meillon, S Mercan, B Bauer-Probst… - Nature Structural & …, 2024 - nature.com
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
… Including the patient with a targeted molecular study, all of our 11 patients with ACC-ID and … Heterozygous ARID1B mutations identified in our patients were loss-of-function mutations (…
Publication: C Mignot, ML Moutard, A Rastetter, L Boutaud, S Heide… - Brain, 2016 - academic.oup.com
Aberration of ARID1A is associated with the tumorigenesis and prognosis of sporadic nonfunctional pancreatic neuroendocrine tumors
… or ARID1B loss-of-function mutations were given a diagnosis of G2 NF-pNETs, whereas the patients with wild-type ARID1A/ARID1B … in 2 patients and ARID1B in 1 patient; at same time, …
Publication: X Han, W Chen, P Chen, W Zhou, Y Rong, Y Lv, J Li… - Pancreas, 2020 - journals.lww.com
ARID2, a rare cause of Coffin–Siris Syndrome: a clinical description of two cases
… The mutation is de novo in the proband, whereas the parents … intelligence retardation and loss-of-function variants of four … Previously reported ARID1B gene knockout (ARID1B ±) mice …
Publication: X Wang, H Wu, H Sun, L Wang, L Chen - Frontiers in Pediatrics, 2022 - frontiersin.org
Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
… three CSS patients, with ARID1B variants in two patients and … Sanger sequencing of the proband and parents and found … PBAF functions caused by the loss of function of this protein [15]…
Publication: D Shin, YJ Lee, YH Jo, J Kong, YJ Lee… - Annals of Clinical & …, 2023 - Assoc Clin Scientists
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
… First, only SMARCA2, SMARCA4, SMARCC2 and ARID1B encoding genes were sequenced in this study. Recent studies has found involvement of other BAF subunits in ASD and …
Publication: T Lo, I Kushima, B Aleksic, H Kato, Y Nawa… - … Review of Psychiatry, 2022 - Taylor & Francis
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
… families, the proband was subsequently identified to have a microdeletion encompassing ARID1B, a known ID gene. Given our findings it is plausible that loss of function of both genes …
Publication: CC Homan, R Kumar, LS Nguyen, E Haan… - The American Journal of …, 2014 - cell.com
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
… individuals with heterozygous loss-of-function mutations in the … two additional heterozygous loss-of-function mutations. Tumors … in family 2 and the proband in family 4 during pregnancy. …
Publication: MJ Smith, J O'Sullivan, SS Bhaskar, KD Hadfield… - Nature …, 2013 - nature.com
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability
… In addition, in the family 2 proband, we observed a single … This analysis provides sufficient evidence that loss of function of … in ARID1B,29 might be one of the more common causes of …
Publication: D Grozeva, K Carss, O Spasic-Boskovic… - The American Journal of …, 2014 - cell.com
Chromatin-remodeling-factor ARID1B represses Wnt/β-catenin signaling
… that in individuals with intellectual disability and ARID1B loss-of-function mutations, Wnt/b-… IPA-identified pathways might be involved in the phenotype, we decided to concentrate first on …
Publication: G Vasileiou, AB Ekici, S Uebe, C Zweier, J Hoyer… - The American Journal of …, 2015 - cell.com
Dual ARID1A/ARID1B loss leads to rapid carcinogenesis and disruptive redistribution of BAF complexes
… contributes to the malignant phenotype, we re-expressed ARID1A or ARID1B in MFE-296 … and ARID1B missense mutations and truncations in cancer that lead to loss of function are …
Publication: Z Wang, K Chen, Y Jia, JC Chuang, X Sun, YH Lin… - Nature cancer, 2020 - nature.com
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
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.
Publication: The American Journal of Human Genetics
Significant contribution of intragenic deletions to ARID1B mutation spectrum
To the Editor:The arrival of high-throughput sequencing technology has revolutionized the field of medical genetics by steeply increasing the number of identified disease-causing variants, often bringing the previously unknown genes to the center of genetic investigations. The perfect example of this shift is the ARID1B gene, which in just several years became known as one of the most commonly mutated genes in Coffin–Siris syndrome as well as in isolated intellectual disability (ID).
Publication: Genetics in Medicine