This report describes general characteristics of the group of diseases classified as Coffin-Siris syndrome (CSS). A comprehensive list of CSS subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. OMIM also classifies these diseases under the phenotypic series for autosomal dominant intellectual disability (see FBhh0000127). Links to more detailed reports for subtypes that have been investigated using fly models are listed in the 'Related diseases' table, below.
Forms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. In flies, the two major SWI/SNF complexes are designated BAP (FBgg0000281) and PBAP (FBgg0000292).
[updated Aug. 2019 by FlyBase; FBrf0222196]
Coffin-Siris syndrome is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]
Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014; pubmed:25169447). [from MIM:135900; 2019.07.19]
The diseases in this series all exhibit autosomal dominant inheritance. [from MIM:PS135900; 2019.07.19]
Based on different subunit composition, several distinct SWI/SNF complexes have been described. All complexes include the core subunits SMARCA4 (brm in Drosophila), SMARCD1, SMARCD2 or SMARCD3 (Dmel\Bap60), SMARCB1 (Dmel\Snr1) and SMARCC1 or 2 (Dmel\mor). The canonical (BAP or BAF) complex includes ARID1A or ARID1B (osa in Drosophila). The Polybromo-associated complex (PBAP or PBAF) includes PBRM1 (Dmel\polybromo), ARID2 (Dmel\Bap170), and PHF10 (Dmel\e(y)3). PHF10 has also been reported to be a component of a specific neural progenitor BAF (npBAF). See gene group reports BRAHMA COMPLEXES (FlyBase, FBgg0000294), BAF complex (HGNC, https://www.genenames.org/data/genegroup/#!/group/1604), and PBAF complex (HGNC, https://www.genenames.org/data/genegroup/#!/group/1605).
Forms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. [from MIM:135900; 2019.07.19]
