In order to place our findings in a human pathological context, we analyzed primary skin fibroblasts from FD patients carrying the splice site IVS20 + 6T_C variant in ELP144 that expressed barely detectable amount of ELP1 proteins and low level of ELP3, resulting from its instability upon nonassembly of the Elongator complex (Supplementary Fig. 4a)25. This evidence concerns the gene ELP1 and Fabry disease.