Figure 2.

A de novo missense mutation of ZIC2 is identified. (A) The pedigree of the family; (B) The variant c.1069C >G is confirmed by bidirectional Sanger sequencing. (C) The resulted missense mutation p.H357D is located in the 3rd ZFD of the ZIC2 protein. (D) The amino acid residue 357 Histidine of ZIC2is evolutionarily conserved crossingall vertebrates we examined. (E) The interactionsinvolving amino acid C335, C340, H353, and H357 are predicted by SWISS-MODEL program. ZIC2 = Zic Family Member 2.