Table 1.
Details of ancestry and mutations in THES peripheral blood samples
| Status | Gene Mutated | Mutation 1 | Mutation 2 | Protein | Gender | Age at Harvest | Ancestry | Consanguinity |
|---|---|---|---|---|---|---|---|---|
| Control | SKIV2L | c.1635insA | - | p.Gly546Argfs*35 | Male | 49 | North Africa | - |
| Control | SKIV2L | c.1635insA | - | p.Gly546Argfs*35 | Female | 43 | North Africa | - |
| Control | TTC37 | c.3960C>A | - | p.(Tyr1320*) | Male | 50 | North Africa | - |
| THES | SKIV2L | c.3561_3581del | c.3561_3581del | p.(Ser1189_Leu1195del) | Male | 1 | Kuwait | Yes |
| THES | SKIV2L | c.848G>A | c.1022T>G | p.(Trp283*), p.Val341Gly | Female | 4 | France | No |
| THES | TTC37 | c.3960C>A | c.3960C>A | p.(Tyr1320*) | Male | 10 | France | Yes |
| THES | TTC37 | c.2808G>A | c.2808G>A | p.Trp936* | Male | 5 | Pakistan | Yes |
| THES | TTC37 | c.2779-2G>A | c.2779-2G>A | p.Glu974Glyfs*19 | Male | 9 | Pakistan | Yes |