Interestingly, the human BOC gene is known to be situated on chromosome 3q13.2 and deletions of 3q13.1q13.3 or 3q13.2q21.3 have both previously been associated with agenesis of the corpus callosum and abnormal facial features (Genuardi et al., 1994; Lawson-Yuen et al., 2006). The gene discussed is BOC; the disease is Agenesis of corpus callosum.