Fig. 3. Variants in extracellular matrix-associated genes COL4A1, PXDN, ADAMTS17, and recently reported anterior segment disorder (ASD) genes CPAMD8 and ITPR1.

Variants reported in the rarely reported ASD genes a COL4A1, b PXDN, c ADAMTS17, d CPAMD8, e ITPR1. Variants above the gene were found in this study, and previously reported variants are listed underneath the gene diagrams. Note: in COL4A1 over 50 missense variants, mostly involving glycine residues in the triple helical domain, have been reported in the literature. Several well reported variants are displayed. Also, the ADAMTS17 variant we report is the first associated with an Axenfeld–Rieger anomaly (ARA) phenotype.