Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.

BACKGROUND

Cleft lip with or without cleft palate (CL ± P) is a common congenital anomaly with complex genetic origins. CASE PRESENTATION: This study presents a genetic case series of three Ecuadorian families with non-syndromic cleft lip and/or palate analyzed using whole-exome sequencing (WES). We identified rare or novel variants in genes with established or emerging roles in craniofacial development. Bioinformatic analyses—while not supported by functional validation—helped prioritize several candidate variants, including a novel KIF7 variant.

CONCLUSION

These findings provide exploratory genetic data from an underrepresented Latin American population and highlight the need to include diverse cohorts in genomic research to improve diagnosis and genetic counseling.