Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

Cleft palate probands are globally enriched for protein-altering de novo variants, and gene-specific enrichment was found for seven cleft-related genes. Differences in individuals with syndromic versus nonsyndromic cleft palate were observed, although overlap in affected genes between groups suggests the existence of a phenotypic spectrum rather than distinct etiologies.