Seyed Mohsen Aghayee Zarch - Department of Medical Genetics, ShahidSadoughi University of Medical Sciences, Yazd, Iran
SeyedHamidreza Mirabutalebi - Department of Medical Genetics, ShahidSadoughi University of Medical Sciences, Yazd, Iran
Ali Khodadadian - Department of Medical Genetics, ShahidSadoughi University of Medical Sciences, Yazd, Iran
Mehrdad Talebi - Department of Medical Genetics, ShahidSadoughi University of Medical Sciences, Yazd, Iran

Coffin-siris syndrome (CSS) is a multiple congenital anomaly-intellectualdisability syndrome (MCA/ID) with autosomal dominant (AD) mode ofinheritance and genetic heterogeneity. This syndrome is characterized byclinical features such as developmental delay, hypertrichosis, feedingdifficulties, coarse facial appearance and also microcephaly develop in someCSS individuals. SWI/SNF as a remodeling complex play key role in geneexpression in an ATP-dependent manner and its role as a contributing factorin neurodevelopmental was also approved recently so its existence is criticalfor cell viability. This multiprotein complex was identified as major cause ofCSS. This complex was shown to consist of more than 15 subunits and eachsubunit encoded by disparate genes. These genes including ARID1A, ARID1B,SMARCA4, SMARCB1 and SMARCE1 were proved as a cause of CSS. SOX11 istype of transcription factor and its role in embryonic neurogenesis wasapproved and was also consider as another cause of CSS.

Coffin-siris syndrome, Intellectual disability, SWI/SNF