The CECR2 candidate gene has previously been characterized as a chromatin remodeller. Fairbridge et al. suggests that CECR2 has a “role in [the regulation of] mesenchymal and ectodermal transcription factors” . Their study on mice demonstrated that 74% of mutations resulted in exencephaly with expression in the brain, spinal ganglia, and lens during development.
Further research is being performed.
1. Fairbridge, N.A, et al., (2010). CECR2 mutations causing exencephaly tigger misregulation of mesenchymal/ectodermal transcription factors. 88(8), November 3, 2012. 619-625.