The proband was heterozygous for a 1-bp deletion in the FOXC1 gene (c.317delA) that is expected to result in ARS through haploinsufficiency either due to nonsense-mediated decay of mutant mRNA or mutant FOXC1 protein produced with 181 amino acids rather than full-length 553 amino acids missing the forkhead domain, the most important function part of the protein (p.Gln106Argfs*75, Figure 1B,C). Here, FOXC1 is linked to Axenfeld-Rieger syndrome.