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July-September 2016 | Vol. 9 | Issue 3 | Page No 7-12
Coffin Siris Syndrome: A Disorder of SWI|SNF Pathway
Shivani Mishra and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
Coffin-Siris syndrome (CSS) is classically characterized by aplasia/hypoplasia of the distal phalanx or nail of the fifth digit, coarse facial features and moderate to severe developmental delay. CSS is a genetically heterogeneous disorder with clinical variability. Recently, mutations in five genes which encode for subunits of the ATP dependent chromatin-remodeling complex- switch/sucrose non-fermenting (SWI/SNF): SMARCB1, SMARCA4, SMARCE1, ARID1A and ARID1B, have been found to be responsible for the disorder. The CSS phenotypes and the SWI/SNF complex are discussed in this paper.
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