Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
paper
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- Authors
- Santen, Gijs W E; Aten, Emmelien; Sun, Yu; Almomani, Rowida; Gilissen, Christian; Nielsen, Maartje; Kant, Sarina G; Snoeck, Irina N; Peeters, Els A J; Hilhorst-Hofstee, Yvonne; Wessels, Marja W; den Hollander, Nicolette S; Ruivenkamp, Claudia A L; van Ommen, Gert-Jan B; Breuning, Martijn H; den Dunnen, Johan T; van Haeringen, Arie; Kriek, Marjolein
- Year
- 2012
- Journal
- Nature genetics
- PMID
- 22426309
- DOI
- 10.1038/ng.2217
We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
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| High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. | Yavarna T et al. | β | 2015 | β |
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells. | Letourneau A et al. | β | 2015 | β |
| Intellectual Disability: When the Hypertrichosis Is a Clue. | Pezzani L et al. | β | 2015 | β |
| Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics. | Kadoch C et al. | β | 2015 | β |
| miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. | Franzoni E et al. | β | 2015 | β |
| Molecular pathogenesis of ovarian clear cell carcinoma. | Gounaris I et al. | β | 2015 | β |
| Mutations in ARID2 are associated with intellectual disabilities. | Shang L et al. | β | 2015 | β |
| Neuroepigenomics: Resources, Obstacles, and Opportunities. | Satterlee JS et al. | β | 2015 | β |
| New insights into the genetics of glioblastoma multiforme by familial exome sequencing. | Backes C et al. | β | 2015 | β |
| Next-generation diagnostics: gene panel, exome, or whole genome? | Sun Y et al. | β | 2015 | β |
| Non-targeted metabolomics of <i>Brg1/Brm</i> double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis. | Banerjee R et al. | β | 2015 | β |
| PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. | Oostdijk W et al. | β | 2015 | β |
| Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. | LΓ³pez AJ et al. | β | 2015 | β |
| SWI/SNF complexes are required for full activation of the DNA-damage response. | Smith-Roe SL et al. | β | 2015 | β |
| Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. | Grozeva D et al. | β | 2015 | β |
| A de novo convergence of autism genetics and molecular neuroscience. | Krumm N et al. | β | 2014 | β |
| Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability and neuropsychiatric disorder models. | Taniguchi H et al. | β | 2014 | β |
| Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. | Vergano SS et al. | β | 2014 | β |
| Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. | Kosho T et al. | β | 2014 | β |
| Coffin-Siris syndrome is a SWI/SNF complex disorder. | Tsurusaki Y et al. | β | 2014 | β |
| Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. | Vals MA et al. | β | 2014 | β |
| De novo SOX11 mutations cause Coffin-Siris syndrome. | Tsurusaki Y et al. | β | 2014 | β |
| Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. | Malli T et al. | β | 2014 | β |
| Drosophila models of early onset cognitive disorders and their clinical applications. | van der Voet M et al. | β | 2014 | β |
| Exome sequencing greatly expedites the progressive research of Mendelian diseases. | Zhang X | β | 2014 | β |
| Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. | Sim JC et al. | β | 2014 | β |
| Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. | Zweier C et al. | β | 2014 | β |
| Genetic architecture of cognitive traits. | Le Hellard S et al. | β | 2014 | β |
| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. | Kosho T et al. | β | 2014 | β |
| Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. | Fahrner JA et al. | β | 2014 | β |
| Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use? | Karampetsou E et al. | β | 2014 | β |
| Minireview: Conversing with chromatin: the language of nuclear receptors. | Biddie SC et al. | β | 2014 | β |
| Molecular findings among patients referred for clinical whole-exome sequencing. | Yang Y et al. | β | 2014 | β |
| Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders. | Vogel-Ciernia A et al. | β | 2014 | β |
| Numerous BAF complex genes are mutated in Coffin-Siris syndrome. | Miyake N et al. | β | 2014 | β |
| Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B. | Vengoechea J et al. | β | 2014 | β |
| Prioritization of neurodevelopmental disease genes by discovery of new mutations. | Hoischen A et al. | β | 2014 | β |
| Prioritizing protein complexes implicated in human diseases by network optimization. | Chen Y et al. | β | 2014 | β |
| Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. | Au PY et al. | β | 2014 | β |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP et al. | β | 2014 | β |
| SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease. | Bevilacqua A et al. | β | 2014 | β |
| SWI/SNF factors required for cellular resistance to DNA damage include ARID1A and ARID1B and show interdependent protein stability. | Watanabe R et al. | β | 2014 | β |
| The ARID1B phenotype: what we have learned so far. | Santen GW et al. | β | 2014 | β |
| The promise of whole-exome sequencing in medical genetics. | Rabbani B et al. | β | 2014 | β |
| The role of BAF (mSWI/SNF) complexes in mammalian neural development. | Son EY et al. | β | 2014 | β |
| The Scc2-Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions. | Lopez-Serra L et al. | β | 2014 | β |
| The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors. | Patel ZH et al. | β | 2014 | β |
| The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases. | Romero OA et al. | β | 2014 | β |
| A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. | Wieczorek D et al. | β | 2013 | β |
| A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. | Zweier C et al. | β | 2013 | β |
| A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. | Ku CS et al. | β | 2013 | β |
| Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). | Sun Y et al. | β | 2013 | β |
| Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. | Kosho T et al. | β | 2013 | β |
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders. | Yang Y et al. | β | 2013 | β |
| Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. | Santen GW et al. | β | 2013 | β |
| Combined gene dosage requirement for SWI/SNF catalytic subunits during early mammalian development. | Smith-Roe SL et al. | β | 2013 | β |
| Creating a neural specific chromatin landscape by npBAF and nBAF complexes. | Staahl BT et al. | β | 2013 | β |
| De novo mutations in the genome organizer CTCF cause intellectual disability. | Gregor A et al. | β | 2013 | β |
| From neural development to cognition: unexpected roles for chromatin. | Ronan JL et al. | β | 2013 | β |
| GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. | Willemsen MH et al. | β | 2013 | β |
| Genetic syndromes caused by mutations in epigenetic genes. | Berdasco M et al. | β | 2013 | β |
| Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. | Kobayashi D et al. | β | 2013 | β |
| GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America. | Almomani R et al. | β | 2013 | β |
| Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. | Parikshak NN et al. | β | 2013 | β |
| Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways. | Staahl BT et al. | β | 2013 | β |
| Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. | Smith MJ et al. | β | 2013 | β |
| Peptide matching between Epstein-Barr virus and human proteins. | Capone G et al. | β | 2013 | β |
| Point mutations as a source of de novo genetic disease. | de Ligt J et al. | β | 2013 | β |
| Reprogramming human fibroblasts to neurons by recapitulating an essential microRNA-chromatin switch. | Tang J et al. | β | 2013 | β |
| The chromatin response to DNA breaks: leaving a mark on genome integrity. | Smeenk G et al. | β | 2013 | β |
| The continuing challenge of understanding, preventing, and treating neural tube defects. | Wallingford JB et al. | β | 2013 | β |
| The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory. | Vogel-Ciernia A et al. | β | 2013 | β |
| Transcriptional regulation and its misregulation in disease. | Lee TI et al. | β | 2013 | β |
| Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease. | Sifrim A et al. | β | 2012 | β |
| Cancer genetics and epigenetics: two sides of the same coin? | You JS et al. | β | 2012 | β |
| DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. | Swaminathan GJ et al. | β | 2012 | β |
| De novo mutations in human genetic disease. | Veltman JA et al. | β | 2012 | β |
| Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. | Kleefstra T et al. | β | 2012 | β |
| Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome. | Zhu J et al. | β | 2012 | β |
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | O'Roak BJ et al. | β | 2012 | β |
| Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. | Rabbani B et al. | β | 2012 | β |
| SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. | Santen GW et al. | β | 2012 | β |
| Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | Kim HG et al. | β | 2012 | β |