Fig. 3

A Sanger sequencing results for the family’s RIPK4 gene. The panel shows the presence of a significant variant in the father’s RIPK4 gene (c.1354G > A:p.E452K) and a distinct variant in the mother’s RIPK4 gene at a different locus (c.1558A > T:p.T520S). These findings confirm that the identified variants in the proband follow an autosomal recessive inheritance pattern, leading to pathogenic symptoms when both variants are present. B Conservation analysis of the RIPK4 variants. The image demonstrates the high degree of conservation for both variants (c.1354G > A:p.E452K and c.1558A > T:p.T520S) across different species, as indicated by Mutation Taster analysis