Fig. 2

A Pedigree of Family 1. B Portions of the sequencing electropherograms (gDNA) showing the segregation of the MIA3 variant identified in the family. The arrow indicates the site of variant. C A 2% agarose gel showing partial amplification of the cDNA of the MIA3 (from exons 2–4) in Patient 1 and a normal control subject. D Schematic diagram showing exon 3 skipping and part of the sequencing electropherograms of the cDNA fragment of Patient 1 in comparison to normal control subject. E Pedigree of Family 2. F Portions of the sequencing electropherograms showing the identified MIA3 missense variant in the patient and his parents. The arrow indicates the site of variants. G Structural analysis of the TANGO1 with the p.Cys38Phe variant using Missense3D, predicting a disruption of a disulfide bond and increased steric clashes, potentially impairing protein function. H Schematic diagram of the two long and short transcripts of MIA3 and TANGO1 domains showing all reported variants and their locations. Variants identified in this study are in red