<p>(A) Schematic of CHRDL1 protein domains. The following abbreviations are used: SP, signal peptide; VWFC, von Willebrand factor, type C domain. (B) Schematic of the <i>CHRDL1</i> gene. (C) <i>CHRDL1</i> mutations previously reported in X-linked megalocornea families <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0104163#pone.0104163-Webb1" target="_blank">[3]</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0104163#pone.0104163-Han1" target="_blank">[6]</a>. Frameshift, splicing, nonsense, missense, and whole gene deletion mutations were identified. (D) Novel <i>CHRDL1</i> mutations identified in MGC1 families in this study (Families A–J). The dagger (†) indicates Family K with MMR syndrome.</p
