Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves. Genetic factors are known to play a large role in these anomalies, but the list of known causal genes is far from complete. As part of a larger effort to sequence patients with micrognathia and cleft palate, we identified candidate pathogenic variants in dmx-like 1 (DMXL1). We used genome editing to create an allelic series of Dmxl1 in the mouse: a small deletion and the two orthologous missense variants. We do not find evidence that either missense allele is pathogenic, but we do see that loss of Dmxl1 leads to very early embryonic lethality. This confirms and extends two recent findings about Dmxl1, suggesting this gene has crucial basal functions in the cell and should be further considered in human disease genetics.
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