Coffin-Siris Syndrome

Common Name(s)

Coffin-Siris Syndrome

Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped “pinky” toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome is not usually inherited, but occurs for the first time in a family due to a new mutation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Coffin-Siris Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Coffin-Siris Syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
 

Author(s): Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi

Journal: J. Pathol.. 2017 Sep;243(1):9-15.

 

SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas ...

Last Updated: 13 Jun 2017

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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
 

Author(s): Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, , Susanne J Kühl, Usha Kini, Alisdair McNeill

Journal: J. Med. Genet.. 2016 Mar;53(3):152-62.

 

SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants ...

Last Updated: 25 Feb 2016

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

Author(s): Mari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, Riina Shor, Aleksandr Peet, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Katrin Õunap

Journal: Eur. J. Hum. Genet.. 2014 Nov;22(11):1327-9.

 

Coffin-Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features of CSS. We identified a novel heterozygous ...

Last Updated: 16 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Coffin-Siris Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
 

Author(s): Michael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung, Cornelius F Boerkoel

Journal: Am. J. Med. Genet. A. 2014 Jul;164A(7):1808-14.

 

Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of ...

Last Updated: 19 Jun 2014

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Coffin-Siris syndrome.
 

Author(s): P Levy, M Baraitser

Journal: J. Med. Genet.. 1991 May;28(5):338-41.

 

Last Updated: 6 Sep 1991

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.