This report describes Coffin-Siris syndrome 4 (CSS4), which is a subtype of Coffin-Siris syndrome; it is also called mental retardation autosomal dominant 16 (MRD16). CSS4 exhibits autosomal dominant inheritance. The human gene implicated in this disease is SMARCA4, which encodes a core component of SWI/SNF complexes; these complexes regulate transcription via chromatin remodeling. See the report for 'intellectual developmental disorders, SMARCA2,4-related' (FBhh0001097) for information on experimental results using Drosophila models of this and related diseases.
[updated Jul. 2019 by FlyBase; FBrf0222196]
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]
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 4; CSS4](https://omim.org/entry/614609)
[SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4](https://omim.org/entry/603254)
Coffin-Siris syndrome-4 (CSS4) is caused by heterozygous mutation in the SMARCA4 gene. [from OIMI:614609 ; 2019.07.20]
SMARCA4 encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by localized chromatin remodeling (alteration of DNA-nucleosome topology). [Gene Cards, SMARCA2, SMARCA4; 2019.07.22]
