Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Vals, Mari-Anne; Õiglane-Shlik, Eve; Nõukas, Margit; R, Shor; Peet, Aleksandr; Kals, Mart; Kivistik, Paula Ann; Metspalu, Andres; Õunap, Katrin

doi:10.1038/ejhg.2014.25

Cited by 20 publications

(17 citation statements)

References 18 publications

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“…Here, we report a child with a novel ARID1B mutation identified by whole-exome sequencing (WES) that presented with obesity and hyperinsulinism supporting earlier studies (6). Also she has café-aulait (CAL) spots expanding the phenotypic spectrum of patients with CSS.…”

Section: Introductionsupporting

confidence: 51%

“…O u r p a t i e n t p r e s e n t e d w i t h o b e s i t y a n d hyperinsulinism supporting Vals et al They suggest that these features may be associated with ARID1B gene mutations, further broadening the phenotypic spectrum of CSS, and they may be added to the list of clinical features of ARID1B mutations (6). These results reinforce the view that reevaluation of individuals with a broader phenotype is needed to determine the frequency of this finding in persons with molecularly confirmed CSS.…”

Section: Discussionmentioning

confidence: 98%

“…Before the molecular basis of CSS was known, the diagnosis of CSS was based rigorously on clinical findings. After molecular diagnosis of the patients with CSS, the phenotypic spectrum of CSS is becoming wider especially in patients with ARID1B mutations (6).…”

Section: Introductionmentioning

confidence: 99%

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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

Sönmez

Uctepe²,

Gündüz

et al. 2016

IRDR

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Section: Introductionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 98%

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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

Sönmez

Uctepe²,

Gündüz

et al. 2016

IRDR

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“…One Coffin-Siris patient with an ARID1B mutation and obesity, macrocephaly, hepatomegaly, and hyperinsulinism was reported [Vals et al, 2014] though it is not yet possible to conclude if these features are truly associated with ARID1B or not. Interestingly, triggered by a patient with a deletion, ARID1B mutations have also been identified in four patients with a phenotype reminiscent of Pierpont syndrome, characterized by the presence of plantar fat pads [Sim et al, 2014].…”

Section: Point Mutations In Arid1bmentioning

confidence: 96%

The ARID1B phenotype: What we have learned so far

Santen

Clayton‐Smith²

2014

American J of Med Genetics Pt C

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Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by ARID1B mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding ARID1B and attempt to delineate the ARID1B phenotype. The vast majority of published ARID1B patients have been ascertained through studies of Coffin-Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequencing studies helps in delineation of the broader clinical phenotype. We are currently establishing an ARID1B consortium, aimed at collecting ARID1B patients identified through genome-wide sequencing strategies. We hope that this endeavor will eventually lead to a more comprehensive view of the ARID1B phenotype.

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“…Most of our BWS group patients were referred because of macrosomia, but some of them did not have previously defined overgrowth and their actual clinical score did not meet the required minimum. Also, macrosomia can be caused by other factors like overlapping syndromes or simple overweight/obesity (some patients had weight, but not height >97th centile), as we later diagnosed Coffin-Siris syndrome caused by ARID1B gene mutation in one patient of this investigation group (Vals et al, 2014). However, not all the BWS patients are macrosomic (Elliott and Maher, 1994) and therefore it is not mandatory to present with overgrowth in case of BWS.…”

Section: Discussionmentioning

confidence: 99%

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome

Vals

Yakoreva

Kahre

et al. 2015

Genetic Testing and Molecular Biomarkers

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Aims: To study the frequency of methylation abnormalities among Estonian patients selected according to published clinical diagnostic scoring systems for Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS). Materials and Methods: Forty-eight patients with clinical suspicion of SRS (n = 20) or BWS (n = 28) were included in the study group, to whom methylation-specific multiplex ligation-dependant probe amplification analysis of 11p15 region was made. In addition, to patients with minimal diagnostic score for either SRS or BWS, multilocus methylation-specific single nucleotide primer extension assay was performed. Results: Five (38%) SRS patients with positive clinical scoring had abnormal methylation pattern at chromosome 11p15, whereas in the BWS group, only one patient was diagnosed with imprinting control region 2 (ICR2) hypomethylation (8%). An unexpected hypomethylation of the PLAGL1 (6q24) and IGF2R (6q25) genes in the patient with the highest BWS scoring was found. Conclusions: Compared to BWS, diagnostic criteria used for selecting SRS patients gave us a similar detection rate of 11p15 imprinting disorders as seen in other studies. A more careful selection of patients with possible BWS should be considered to improve the detection of molecularly confirmed cases. Genome-wide multilocus methylation tests could be used in routine clinical practice as it increases the detection rates of imprinting disorders.

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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Cited by 20 publications

References 18 publications

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

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

The ARID1B phenotype: What we have learned so far

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome

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