Most recently, de novo SOX11 mutations have been found in two CSS patients with mild phenotypes (Tsurusaki et al., 2014). SOX11 is a transcription factor that is targeted by the Pax6-BAF interaction in adult NSCs (Ninkovic et al., 2013). This suggests that a functional network emanating from BAF governs aspects of CSS pathology. It will be interesting to see if the host of CSS mutations can be experimentally linked to specific molecular and cellular phenotypes downstream of BAF malfunction, such as insufficient progenitor expansion (which could cause microcephaly), defects in the maturation of callosal projection neurons (which could cause AgCC) and misregulation of the Hedgehog signaling pathway (which could cause digit malformations).
