Mutations identified in patients with BMF
| Gene affected . | Mutation . | Initial diagnosis . | Frequency of mutation/total patients screened . |
|---|---|---|---|
| TERC | C35T | MDS | 1/200 |
| TERC | T100A | DC | 1/200 |
| TERC | 3′ del 74 bp | DC | 1/200 |
| TERC | 5′ del 316 bp | DC | 1/200 |
| TERT | P704S | AA, DC | 2/199 |
| TERT | Y846C | AA | 1/199 |
| TERT | H876Q | AA | 1/199 |
| TERT | A716V | AA | 1/199 |
| TERT | C1015R | AA | 1/199 |
| DKC1 | Q31E | DC | 1/19* |
| DKC1 | T66A | DC/HH | 1/19* |
| DKC1 | S304N | DC/HH | 1/19* |
| DKC1 | L317V | DC | 1/19* |
| DKC1 | A353V | DC, DC | 2/19* |
| DKC1 | A386T | DC | 1/19* |
| Gene affected . | Mutation . | Initial diagnosis . | Frequency of mutation/total patients screened . |
|---|---|---|---|
| TERC | C35T | MDS | 1/200 |
| TERC | T100A | DC | 1/200 |
| TERC | 3′ del 74 bp | DC | 1/200 |
| TERC | 5′ del 316 bp | DC | 1/200 |
| TERT | P704S | AA, DC | 2/199 |
| TERT | Y846C | AA | 1/199 |
| TERT | H876Q | AA | 1/199 |
| TERT | A716V | AA | 1/199 |
| TERT | C1015R | AA | 1/199 |
| DKC1 | Q31E | DC | 1/19* |
| DKC1 | T66A | DC/HH | 1/19* |
| DKC1 | S304N | DC/HH | 1/19* |
| DKC1 | L317V | DC | 1/19* |
| DKC1 | A353V | DC, DC | 2/19* |
| DKC1 | A386T | DC | 1/19* |
MDS indicates myelodysplastic syndrome; DC, dyskeratosis congenita; AA, aplastic anemia; and HH, Hoyeraal Hreidarson.
DKC1 gene was only analyzed in male patents with clinical signs of HH, DC, or telomere lengths less than the 1st percentile.