Fig. 1.

The c.116_137del p.(Q39Lfs*14) and the c.707G>C p.(R236P) mutation. DNA from fibroblasts of the proband and DNA from blood of the control showing the c.116_137del mutation (A and B) and the c.707G>C mutation (C en D). cDNA from fibroblasts of the proband cultured with puromycin, which inhibits NMD (F), shows that the signal of the wild-type nucleotide c.707G is relatively higher compared to cDNA from fibroblasts cultured without puromycin (E). Amino acid alignment of the human SLC25A4 reference sequence versus various species for position 6 to 54 and position 205 to 254. Indicated is the position of the p.(Q39Lfs*14) mutation and the p.(R236P) mutation. The arginine at position 236 is conserved in all species shown (G)