Table 2.
Summary of KTS-associated ROGDI gene mutations.
| Type of Mutation | Genotype | Molecular Phenotype | Ref. |
|---|---|---|---|
| Deletion mutation | homozygous for c.229_230del | p.Leu77Alafs*64 | 14 |
| homozygous for c.507delC | p.Glu170Argfs*72 | 16 | |
| homozygous for c.46–37_46–30del | N/A | 16 | |
| homozygous for c.45 + 9_45 + 20del | p.Glu16Valfs*57 | 16 | |
| Nonsense mutation | homozygous for c.286 C > T | p.Gln96* | 14 |
| homozygous for c.469 C > T | p.Arg157* | 13 | |
| Duplication and deletion mutation | heterozygous for c.366dupA and c.45 + 9_45 + 20del | p.Ala123Serfs*19 | 16 |
| Splicing-site mutation | heterozygous for c.531 + 5 G > C and c.532-2 A > T | N/A | 14 |
| homozygous for c.117 + 1 G > T | 24A.A. deletion from position Glu16 to Lys39 | 15 |