Candidate genes involved in coffin-siris syndrome

Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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NGCMED10_018

تاریخ نمایه سازی: 16 تیر 1397

Abstract:

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.

Authors

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