FIGURE 3.

Schematic representation of the five reported genes, displaying their exons, mutation focal points, and respective protein domains. (A) Schematic overview of the GFM2 gene, protein domains, and position of the identified variant in P1; (B) schematic overview of the NDUFAF5 gene, protein domains, and position of the identified variant in P2; (C) schematic overview of the FASTKD2 gene, protein domains, position of the identified variant in P3, and the result of NMD prediction for this variant, indicating its location within the NMD-competent region; (D) schematic overview of the FOXRED1 gene, protein domains, and position of the identified variant in P4; and (E) schematic overview of the FH gene, protein domains, and position of the identified variant in P5.