Table 1.
Individuals Carrying PADI3, TGM3, and TCHH Mutations
| Country | Gene | Mutation | Consequence | Clinical Description |
|---|---|---|---|---|
| United Kingdom | PADI3 | c.881C>T, homozygous | p.Ala294Val | this study |
| Denmark | PADI3 | c.881C>T, homozygous | p.Ala294Val | Nissen and Svendsen24 |
| Germany | PADI3 | c.335T>A, homozygous | p.Leu112His | this study |
| Spain | PADI3 | c.881C>T, c.335T>A | p.Ala294Val, p.Leu112His | Novoa et al.25 |
| Germany | PADI3 | c.881C>T, c.335T>A | p.Ala294Val, p.Leu112His | this study |
| Germany | PADI3 | c.881C>T, c.335T>A | p.Ala294Val, p.Leu112His | this study |
| Germany | PADI3 | c.881C>T, c.1813C>A | p.Ala294Val, p.Pro605Thr | this study |
| Germany | PADI3 | c.335T>A, c.1813C>A | p.Leu112His, p.Pro605Thr | this study |
| Switzerland | PADI3 | c.881C>T, c.1732A>T | p.Ala294Val, p.Lys578∗ | this study |
| Turkey | TGM3 | c.1351C>T, homozygous | p.Gln451∗ | Kilic et al.26 |
| Germany | TCHH | c.991C>T, homozygous | p.Gln331∗ | this study |