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RESULTS: We identified a missense L165F variant in the homeodomain of ALX1 leading to a loss-of-function of this transcription factor. This mutation was found to be heterozygous in the parents (ALX1+/-) and homozygous in the children born with FND (ALX1-/-). Using CRISPR, we generated mutant alx1-/zebrafish which exhibited reduced gene expression and anomalies of the craniofacial cartilage of the median palate, corresponding to the frontonasal oblique facial cleft phenotype of the subjects. The alx1-/zebrafish also formed smaller Meckel’s cartilage, analogous to human micrognathia. We also found that ALX1 mutant zebrafish displayed strong increases in the expression of ALX3 and ALX4a at early developmental stages relative to their wild-type counterparts, likely related to a redundancy of these genes. The reprogramming process into iPSC’s from the patient’s samples as well as those of the father and the control showed no differences pointing toward a role in later development of ALX1. Through the analysis of the EB’s developed from the iPSC’s, we found that ALX1 loss of function resulted in altered expression of genes relevant to neural crest differentiation, as well as PAX6 and its target gene SIX6, both key genes of eye development.

Abstract 8: Corneal Neurotization Rescues the Corneal Epithelium from Thinning in a Rat Model of Neurotrophic Keratopathy