What question did this study set out to answer?

This study aims to investigate the role of EHHADH and MASP1 mutations in nonsyndromic cleft lip using familial and zebrafish models.

December 11, 2025Biology OpenOpen Access

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

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Familial analysis and zebrafish models demonstrate MASP1 and EHHADH mutations impair craniofacial morphogenesis.

This study aims to investigate the role of EHHADH and MASP1 mutations in nonsyndromic cleft lip using familial and zebrafish models.
Analyzed a Polish family with cleft lip using whole-genome sequencing and bioinformatic tools.
Conducted network analysis to determine functional associations between EHHADH and MASP1 genes.
Performed zebrafish mRNA injection experiments to validate phenotypic outcomes of mutations.
Identified mutations in EHHADH and MASP1 segregating with cleft lip phenotype in the family.
Zebrafish injected with mutant mRNAs exhibited craniofacial abnormalities, most severe with co-injection.
Alcian Blue staining revealed changes in cartilage development and morphology affecting extracellular matrix.

Swatowska et al. (2025) studied this question.

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