<scp>Coffin‐Siris</scp> syndrome with bilateral macular dysplasia caused by a novel exonic deletion in <scp><i>ARID1B</i></scp>

Fujita, Takako; Ihara, Yukiko; Hayashi, Hitomi; Ishii, Atsushi; Ideguchi, Hiroshi; Inoue, Takahito; Imaizumi, Taichi; Yamamoto, Toshiyuki; Hirose, Sachiko

doi:10.1111/cga.12383

Cited by 2 publications

(2 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, Pascolini et al [33] describe monozygotic twins with an in-frame deletion of exon 2-4 of ARID1B, where the father could not be tested. The location, in-frame nature and unknown inheritance cast doubt upon the pathogenicity of this particular variant [34], although a very similar variant was identified in a CSS patient by Fujita et al [35]. They identified an in-frame deletion of exons 2-5, of unknown inheritance, but the phenotype and the Face2Gene analysis (rank 1, similarity 0.62) make the pathogenicity of this variant more likely.…”

Section: Variant Location and The Pvs1 Categorymentioning

confidence: 94%

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Sluijs

Alders

Dingemans

et al. 2021

Genes

View full text Add to dashboard Cite

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines for the interpretation of sequence variants. However, familial loss-of-function variants can also occur and can be challenging to interpret. Such variants may be pathogenic with variable expression, causing only a mild phenotype in a parent. Alternatively, since some regions of the ARID1B gene seem to be lacking pathogenic variants, loss-of-function variants in those regions may not lead to ARID1B haploinsufficiency and may therefore be benign. We describe 12 families with potential loss-of-function variants, which were either familial or with unknown inheritance and were in regions where pathogenic variants have not been described or are otherwise challenging to interpret. We performed detailed clinical and DNA methylation studies, which allowed us to confidently classify most variants. In five families we observed transmission of pathogenic variants, confirming their highly variable expression. Our findings provide further evidence for an alternative translational start site and we suggest updates for the ACMG guidelines for the interpretation of sequence variants to incorporate DNA methylation studies and facial analyses.

show abstract

Section: Variant Location and The Pvs1 Categorymentioning

confidence: 94%

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Sluijs

Alders

Dingemans

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

“…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.

View full text Add to dashboard Cite

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.

show abstract

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

Cited by 2 publications

References 18 publications

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

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

Contact Info

Product

Resources

About