Coffin-Siris syndrome

Definition:

Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease.

References:

[1]. Ash Zawerton, et al. De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet. 2019 Feb 7;104(2):246-259. [Content Brief]

[2]. Gijs W E Santen, et al. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):379-80. [Content Brief]

[3]. Kevin C J Nixon, et al. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet. 2019 Apr 4;104(4):596-610. [Content Brief]

[4]. Scott Barish, et al. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. [Content Brief]

[5]. Y Tsurusaki, et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014 Jun;85(6):548-54. [Content Brief]

[6]. Yoshinori Tsurusaki, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. [Content Brief]

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