Skip to main content
. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163

Figure 2. Summary of CHRDL1 mutations.

Figure 2

(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 CHRDL1 gene. (C) CHRDL1 mutations previously reported in X-linked megalocornea families [3], [6]. Frameshift, splicing, nonsense, missense, and whole gene deletion mutations were identified. (D) Novel CHRDL1 mutations identified in MGC1 families in this study (Families A–J). The dagger (†) indicates Family K with MMR syndrome.