Table 1. Genes involved in Diamond–Blackfan anemia (DBA) from the most mutated to reported cases, incidence, and references.
| Mutated gene | Incidence in DBA
population |
References |
|---|---|---|
| RPS19 | 25% | Draptchinskaia
et al.
4
Willig et al. 51 Ramenghi et al. 55 Cmejla et al. 56 Proust et al. 57 Campagnoli et al. 58 |
| Large deletions | 10–20% | Gustavsson
et al.
59
Quarello et al. 60 Farrar et al. 39 Quarello et al. 49 Kuramitsu et al. 48 |
| RPL5 | 7% | Gazda
et al.
17
Cmejla et al. 16 Quarello et al. 61 |
| RPS26 | 6.6% | Doherty et al. 37 |
| RPL11 | 5% | Gazda
et al.
17
Cmejla et al. 16 Quarello et al. 61 |
| RPL35a | 3% | Farrar et al. 38 |
| RPS10 | 3% | Doherty et al. 37 |
| RPS24 | 2.4% | Gazda et al. 41 |
| RPS17 | 1% | Cmejla
et al.
42
Song et al. 62 |
| RPL15 | One case
Six cases |
Landowski
et al.
40
Wlodarski et al. 7 |
| RPS28 | Two families | Gripp et al. 52 |
| RPS29 | Two families | Mirabello et al. 45 |
| RPS7 | One case | Gazda et al. 17 |
| RPS15 | One case | Gazda et al. 17 |
| RPS27a | One case | Gazda et al. 17 |
| RPS27 | One case | Wang et al. 63 |
| RPL9 | One case
Two cases |
Gazda
et al.
17
euroDBA group, in preparation |
| RPL18 | One family | Mirabello et al. 64 |
| RPL26 | One case | Gazda et al. 65 |
| RPL27 | One case | Wang et al. 63 |
| RPL31 | One case | Farrar et al. 66 |
| TSR2 (X-linked) | One family | Gripp et al. 52 |
| GATA1 (X-linked) | Five families | Sankaran
et al.
43
Klar et al. 67 Ludwig et al. 53 Parrella et al. 68 |
| EPO | One case | Kim et al. 44 |