Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the &lt;i&gt;ARID1B&lt;/i&gt; gene

Sönmez, Fatma Müjgan; Uctepe, Eyyup; Gündüz, Mehmet; Gormez, Zeliha; Erpolat, Seval; Oznur, Murat; Sağıroğlu, Mahmut Şamil; Demirci, Hüseyin; Gündüz, Esra

doi:10.5582/irdr.2014.01040

Cited by 15 publications

(16 citation statements)

References 15 publications

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“…Diabetes was diagnosed in 5/71 patients; 4 of these patients were reported to have type 2 diabetes and had a relatively high weight, while one was diagnosed with type 1 diabetes, and 1 patient was diagnosed with hyperinsulinism. This patient with hyperinsulinism has been described previously, 19 and one additional patient has been reported to have hyperinsulinism. 10 Of our patients, 7/51 were diagnosed with GH deficiency, and 6 of those received GH supplementation.…”

Section: Discussionsupporting

confidence: 53%

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Sluijs

Jansen

Vergano

et al. 2019

Genetics in Medicine

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104

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PurposePathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.MethodsClinicians entered clinical data in an extensive web-based survey.Results79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.ConclusionThere are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.

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Section: Discussionsupporting

confidence: 53%

“…Sixty-two patients were previously reported in literature. 4–6,9,19,26 Pathogenic variants were apparently de novo in all cases where parents could be tested (107/107). In two sisters the same pathogenic variant was found, while paternal DNA could not be obtained.…”

Section: Resultsmentioning

confidence: 99%

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Sluijs

Jansen

Vergano

et al. 2019

Genetics in Medicine

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104

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“…The SWI/SNF complexes have important roles in the chromatin remodeling process, 3 whereas CREBBP and EP300 , the genes responsible for RSTS, are also related to chromatin remodeling. Sonmez et al reported a patient who was initially considered to have RSTS 14 . After a comprehensive genomic analysis, the patient was found to have a novel ARID1B mutation and was diagnosed with CSS, similar to the present patient.…”

Section: Discussionsupporting

confidence: 76%

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Fujita

Ihara

Hayashi

et al. 2020

Congenital Anomalies

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Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.

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“…Other characteristics of this disorder include respiratory infections, feeding issues, hearing loss, sparse scalp hair and hypermobility of joints ( Vergano and Deardorff, 2014 ). Mutations in ARID1B have also been linked to Autism Spectrum Disorder (ASD), Intellectual Disabilities (ID), epilepsy and neuroblastoma ( Vergano et al, 1993 ; Halgren et al, 2012 ; Hoyer et al, 2012 ; Santen et al, 2012 ; Vals et al, 2014 ; Yu et al, 2015 ; Ben-Salem et al, 2016 ; Sonmez et al, 2016 ; Jung et al, 2017 ; Lee et al, 2017 ; Shibutani et al, 2017 ; Yu et al, 2018 ; Demily et al, 2019 ; Filatova et al, 2019 ; Pranckeniene et al, 2019 ; Sekiguchi et al, 2019 ; van der Sluijs et al, 2019 ; Curcio et al, 2020 ; Fujita et al, 2020 ; Lian et al, 2020 ; Pascolini et al, 2020 ; Smith et al, 2020 ). ARID1B mutations can be associated with both syndromic and non-syndromic forms of ID ( van der Sluijs et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination

Pagliaroli

Trizzino

2021

Front. Cell Dev. Biol.

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Organismal development is a process that requires a fine-tuned control of cell fate and identity, through timely regulation of lineage-specific genes. These processes are mediated by the concerted action of transcription factors and protein complexes that orchestrate the interaction between cis-regulatory elements (enhancers, promoters) and RNA Polymerase II to elicit transcription. A proper understanding of these dynamics is essential to elucidate the mechanisms underlying developmental diseases. Many developmental disorders, such as Coffin-Siris Syndrome, characterized by growth impairment and intellectual disability are associated with mutations in subunits of the SWI/SNF chromatin remodeler complex, which is an essential regulator of transcription. ARID1B and its paralog ARID1A encode for the two largest, mutually exclusive, subunits of the complex. Mutations in ARID1A and, especially, ARID1B are recurrently associated with a very wide array of developmental disorders, suggesting that these two SWI/SNF subunits play an important role in cell fate decision. In this mini-review we therefore discuss the available scientific literature linking ARID1A and ARID1B to cell fate determination, pluripotency maintenance, and organismal development.

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Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the <i>ARID1B</i> gene

Cited by 15 publications

References 15 publications

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination

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