Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models.

ABSTRACT: Cleft lip with or without cleft palate (CL/P) represents one of the most common congenital craniofacial anomalies. Its complex genetic etiology remains incompletely understood. This study investigated compound inheritance of mutations in the EHHADH and MASP1 genes in a Polish family with three affected individuals using whole-genome sequencing and bioinformatic analysis, followed by zebrafish functional validation. We identified mutations in both genes that segregated with the CL/P phenotype. Network analysis demonstrated significant functional associations between these genes, with enrichment for innate immune response pathways. Using zebrafish models, we validated the phenotypic consequences of these mutations through mRNA injection experiments. Individual or combined injections of mutan

SUBMITTER: Swatowska P 

PROVIDER: S-EPMC12746707 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature