Molecular characteristics

SMARCD1 is a subunit of the SWI/SNF chromatin remodeling complex (also known as the BAF complex in mammals). This complex works to open chromatin for transcription-factor binding, thus playing a major role in regulation of gene expression in cells. Various mutations in SWI/SNF chromatin remodeling complex have been associated with neurodevelopmental disorders (NDDs). NDDs are a group of disorders including, among others, intellectual disability and autism. Research suggests that SMARCD1 plays an important role in establishing proper cognitive functions.

De novo SMARCD1 gene mutations were identified in four of the five individuals (the father of the last individual was not available for testing). De novo mutations are new mutations in an individual that were not present or transmitted by their parents.