Table 1.
List of the eIF2B-mutated patients selected for this study
| Patients' number | DNA mutation (mutated gene) | Protein mutation | GEF activity (%) |
|---|---|---|---|
| 569-3 | c.338G > A/c.766-1G > A (EIF2B5) | p.Arg113His/p.256_281del | 40 ± 2 |
| 571-1 | c.166T > G/c.944G > A (EIF2B5) | p.Phe56Val/p.Arg315His | 40 ± 3 |
| 357-2 | c.406C > T/c.1015C > T(EIF2B5) | p.Arg136Cys/p.Arg339Trp | 44.5 ± 4.5 |
| 1078-1 | c.407G > A/c.407G > A (EIF2B5) | p.Arg136His/p.Arg136His | 49.6 ± 5.7 |
| 432-2 | c.271A > G/c.1015C > T (EIF2B5) | p.Thr91Ala/p.Arg339Trp | 53.9 ± 0,.9 |
| 522-1 | c.47C > A/c.338G > A (EIF2B5) | p.Ala16Asp/p.Arg113His | 54 ± 6 |
| 648-1* | c.638A > G/c.638A > G (EIF2B2) | p.Glu213Gly/p.Glu213Gly | 59 ± 1 |
| 648-2* | c.638A > G/c.638A > G (EIF2B2) | p.Glu213Gly/p.Glu213Gly | 64 ± 4 |
| 1014-1 | c.338G > A/c.583C > T(EIF2B5) | p.Arg113His/p.Arg195Cys | 68 ± 4 |
| 338-1 | c.338G > A/c.338G > A (EIF2B5) | p.Arg113His/p.Arg113His | 75.2 ± 1.5 |
| 370-2 | c.338G > A/c.584G > A(EIF2B5) | p.Arg113His/p.Arg195His | 77 ± 2.5 |
| 630-1 | c.338G > A/c.338G > A (EIF2B5) | p.Arg113His/p.Arg113His | 77.5 ± 2.5 |
| 1241-1* | c.338G > A/c.338G > A (EIF2B5) | p.Arg113His/p.Arg113His | NA |
| 807-1* | c.338G > A/c.338G > A (EIF2B5) | p.Arg113His/p.Arg113His | 67 ± 4.3 |
The clinical and genetic status of these patients has previously been described [16]. Patients' lymphoblasts were used to quantify the protein and transcript expression of the ER-stress genes in comparison to associated controls. * Patients for whom ER-stress responses were compared between lymphoblasts and lymphocytes.
NA: not available.
Table adapted from Horzinski et al. [16]