Novel DKC1 mutations
Mutation . | AA substitution . | Exon . | Family . | Presentation . |
|---|---|---|---|---|
| 29C>T | P10L | 2 | DCR160 | S-DC/HH |
| 200C>T | T67I | 4 | DCR108 | X-DC/HH |
| 204C>A | H68Q | 4 | DCR187 | S-DC/HH |
| 941A>G | K314R | 10 | DCR163, DCR204 | X-DC/HH, S-DC |
| 1075G>A | D359N | 11 | DCR190 | S-DC |
| 1156G>A | A386T | 12 | DCR216 | S-DC/HH |
| 1223C>T | T408I | 12 | DCR125 | X-DC |
| 1258, 1259AG>TA | S420Y | 12 | DCR217 | S-DC |
| IVS14 nt 473A>G | N/A | IVS14 | DCR192 | S-DC |
Mutation . | AA substitution . | Exon . | Family . | Presentation . |
|---|---|---|---|---|
| 29C>T | P10L | 2 | DCR160 | S-DC/HH |
| 200C>T | T67I | 4 | DCR108 | X-DC/HH |
| 204C>A | H68Q | 4 | DCR187 | S-DC/HH |
| 941A>G | K314R | 10 | DCR163, DCR204 | X-DC/HH, S-DC |
| 1075G>A | D359N | 11 | DCR190 | S-DC |
| 1156G>A | A386T | 12 | DCR216 | S-DC/HH |
| 1223C>T | T408I | 12 | DCR125 | X-DC |
| 1258, 1259AG>TA | S420Y | 12 | DCR217 | S-DC |
| IVS14 nt 473A>G | N/A | IVS14 | DCR192 | S-DC |
S indicates sporadic case; DC/HH, patients with features of both classic DC and HH syndrome; X, X-linked inheritance; and nt, intronic mutation.