Fig. 2

Long-read genome sequencing shows the homozygous c.333del variant. (A) Long reads show robust coverage of SEC24C. (B) Schematic representation of the SEC24C gene. Exons are depicted as blue rectangles and consecutively numbered. (C) Zoom into exon 5 of SEC24C showing the homozygous variant c.333del. (D) Schematic representation of the SEC24C protein. Domains are indicated as colored boxes. Orange: zinc finger domain; red: trunk domain; blue: β-sandwich domain; light green: helical domain; turquoise: gelsolin-like domain. Amino acid positions according to pfam are indicated below the schematic. The variant is indicated by a red arrow in the gene and protein representations. (E) Five-generation pedigree showing consanguineous marriages and cosegregation of the c.333del variant. hom., homozygous for the c.333del variant; wt, wild-type; mut, mutation. (F) Electropherograms showing the SEC24C c.333del variant (red arrow) in individual V-8 (homozygous), his parents (heterozygous), and the affected cousins’ parents (heterozygous). The electropherograms of V-6 and V-7 are not shown, for ethical reasons.