|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also provide, for the first time, a review of previously published ARID1B mutated patients with NCBRS and CSS phenotype and a computer-assisted dysmorphology analysis of NCBRS and ARID1B related CSS individuals, through the Face2Gene suite, confirming the existence of highly overlapping facial gestalt of both conditions.
|
31421289 |
2020 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
|
31628733 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
|
31628733 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In cfDNA of CSS-affected individuals with heterozygous ARID1B mutations, we did not observe major changes in the nucleosome profile around transcription start sites.
|
31658463 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes.
|
30838730 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
|
30696996 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
There are only minor differences between ARID1B-ID and ARID1B-CSS patients.
|
30349098 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin-Siris syndrome.
|
30933046 |
2019 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a 69-year-old woman with CSS phenotype and a pathogenic ARID1B loss-of-function variant c.5259_5260dup.
|
30055038 |
2018 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.
|
28695822 |
2017 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior.
|
29184203 |
2017 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ARID1B encodes a subunit of the BAF chromatin-remodeling complex, and mutations in multiple components of the BAF complex have been implicated as causes of Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, and non-syndromic intellectual disability.
|
27570168 |
2016 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.
|
26340334 |
2015 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature.
|
26376624 |
2015 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth nail hypoplasia associated with Coffin-Siris syndrome.
|
24674232 |
2014 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
|
25294932 |
2014 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non-fermenting (SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B.
|
23815551 |
2014 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS.
|
24569609 |
2014 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID.
|
23637025 |
2013 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
|
23906836 |
2013 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
22426309 |
2012 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
|
22426308 |
2012 |
|
Coffin-Siris syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
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.
|
22426309 |
2012 |
|
Coffin-Siris syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
|
30349098 |
2019 |