Mutacje genów kompleksu BAF jako nowy czynnik etiologiczny izolowanej oraz syndromicznej niepełnosprawności intelektualnej w zespołach Coffina i Siris oraz Nicolaidesa i Baraitsera

Multi-subunit complex SWI/SNF (Switch/Sucrose Nonfermenting) in yeast is one of the chromatin-remodelling complex that play an important role in many cellular processes such as transcription, cell differentiation and DNA repair. This complex, depending on the composition of the protein components, functions as an epigenetic modifier of chromatin structure, which changes the state of the biological availability of nucleosomes by modifying transcription factors, resulting in regulating gene expression. In recent years the relation has been found in the functioning of the human counterpart of the complex SWI/SNF, complex BAF (BRG- or BRM-associated factor), with the processes of tumor suppressor and intellectual disabilities and malformations syndromes, which is currently the subject of intense research in molecular genetics.