Autosomal dominant missense, nonsense, and frameshift variants, as well as deletion or duplication of the locus (6p25), have been associated with ocular abnormalities described as the Axenfeld-Rieger syndrome.25,26 Some variants are also associated with white matter abnormalities.25 Two heterozygous predicted high-impact variants in FOXC1 were identified in 2 individuals (0.2%, 95% CI 0.06%–0.8%): 1 novel in-frame insertion (p.Thr68_Pro69insThrProGln) and 1 frameshift variant (p.Ala381_Gly382fs) (table 3). The gene discussed is FOXC1; the disease is Axenfeld-Rieger syndrome.