It is well established that mutations in different genes encoding proteins that act together can cause the same genetic disorder in humans. In the case of the SWI/SNF complex, variation in five different BAF genes, SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B, has been linked to Coffin-Siris Syndrome (CSS), a sporadic intellectual disability syndrome (Santen et al., 2012, Tsurusaki et al., 2012, Tsurusaki et al., 2014). Furthermore, in 87% of CSS patients studied, a mutation in a BAF complex subunit was identified. Together, these data underscore how mutations in different genes encoding members of the same SWI/SNF protein complex can cause similar clinical outcomes.
