Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene

Lian, Sophie Wan Mei; Ting, Teck Wah; Lai, Angeline; Tan, Ee‐Shien; Wei, Heming; Cham, Breana; Tan, Ene‐Choo

doi:10.1016/j.jns.2020.116819

Cited by 5 publications

(5 citation statements)

References 26 publications

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“…Herein, we reported the largest cohort of Chinese CSS patients, with 17 due to ARID1B variants and one due to SMARCB1 variant. With our 17 ARID1B ‐CSS patients, together with two previous reported Chinese ARID1B ‐CSS patients with detailed phenotypic description (Lian et al, 2020), we compared the phenotypic features of Chinese ARID1B ‐CSS patients with the largest published cohort of AIRD1B ‐CSS patients (van der Sluijs et al, 2019). The comparison of frequencies of the major clinical features in Chinese cohort and the literature is illustrated in Table 3.…”

Section: Discussionmentioning

confidence: 99%

“…A large multi‐center series for exploring CSS genotype was published recently and was mainly addressing Japanese patients (Sekiguchi et al, 2019). The literatures concerning the CSS genotype and phenotype in Chinese population was lacking, with only a few case reports and studies (Lee et al, 2020; Lian et al, 2020; Yan et al, 2019). Herein, we reported the largest cohort of Chinese CSS patients, with 17 due to ARID1B variants and one due to SMARCB1 variant.…”

Section: Discussionmentioning

confidence: 99%

“…This is the largest case series for CSS patients of Chinese ethnicity. We attempted to review the clinical features of our ARID1B patients together with two previously reported Chinese patients with ARID1B variants (Lian et al, 2020), and explore the possible ethnicity‐related phenotypic variation in ARID1B ‐related CSS. Notably, this series include a family with familial occurrence of CSS in two half‐sisters due to somatic mosaicism of ARID1B variant in the mother.…”

Section: Introductionmentioning

confidence: 99%

“…aLian et al, 2020. b Van der Sluijs et al, 2019. c Failure to thrive was defined as body weight less than 2 SD. d Short stature was defined as body height less than 2 SD.…”

mentioning

confidence: 99%

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Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome

Cheng

Luk

Mok

et al. 2021

American J of Med Genetics Pt A

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Coffin‐Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1‐associated factors) chromatin modeling complex and its downstream transcriptional factor. To date over 220 CSS individuals with pathogenic variants found have been described in the literature. This case series reported 18 molecularly confirmed Chinese individuals (17 with ARIDIB (OMIM*614556) variants and one with SMARCB1 (OMIM*601607) variant) from 17 unrelated families in Hong Kong. The clinical features of these 18 Chinese CSS patients together with two previously reported Chinese patients with ARID1B variants were reviewed. Among the 19 Chinese patients with ARID1B variants, our data suggested a lower prevalence of feeding problem, autistic features, agenesis of corpus callosum (ACC) or partial/hypoplasia of corpus callosum, and sparse hair when compared with previous reports. There was appearing higher prevalence of digital hypoplasia. Digital hypoplasia was observed to become less noticeable with time in some patients. This report highlighted the age‐dependent phenotypic presentation of CSS and ethnicity‐related effect on ARID1B‐CSS phenotype. Moreover, this series included the first family with molecularly confirmed maternal somatic mosaicism of ARID1B variant leading to familial CSS recurrence.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…aLian et al, 2020. b Van der Sluijs et al, 2019. c Failure to thrive was defined as body weight less than 2 SD. d Short stature was defined as body height less than 2 SD.…”

mentioning

confidence: 99%

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Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome

Cheng

Luk

Mok

et al. 2021

American J of Med Genetics Pt A

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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: Mutations In Arid1bmentioning

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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