Genes involved in DBA and DBA-like syndrome from the most to least frequently mutated: reported cases, incidence, and references
| Mutated gene . | RP . | Incidence in DBA population . | Reference . |
|---|---|---|---|
| Genes involved in DBA* | |||
| RPS19 | eS19 | 25%-30% | 7,51,53-55,102 |
| Large deletions | 10%-20% | 60,66-69 | |
| RPL5 | uL18 | 7%-12% | 7,57-59 |
| RPS26 | eS26 | 6.6%-9% | 7,64 |
| RPL11 | uL5 | 5%-7% | 7,57-59 |
| RPL35a | eL33 | 2%-3% | 7,60 |
| RPS10 | eS10 | 1%-3% | 7,64 |
| RPS24 | eS24 | 2.4%-3% | 7,61 |
| RPS17 | eS17 | 1%-3% | 7,62,63 |
| RPL15 | eL15 | 1 case | 12,73 |
| 6 cases | |||
| RPS28 | eS28 | 2 families | 48 |
| RPS29 | uS14 | 2 families | 71 |
| RPS7 | eS7 | 1 case | 58 |
| RPS15 | uS19 | 1 case | 58 |
| RPS27a | eS31 | 1 case | 58 |
| RPS27 | eS27 | 1 case | 70 |
| RPL9 | uL6 | 1 case | 58 |
| RPL18 | eL18 | 1 family | 71 |
| RPL26 | uL24 | 1 case | 74 |
| RPL27 | eL27 | 1 case | 70 |
| RPL31 | eL31 | 1 case | 75 |
| TSR2 (X linked)† | 1 family | 48 | |
| Genes involved in DBA-like diseases | |||
| GATA1 (X linked)‡ | 5 families | 47,77-80 | |
| EPO | 1 case | 46 | |
| ADA2§ | 9 individuals | 7 |
| Mutated gene . | RP . | Incidence in DBA population . | Reference . |
|---|---|---|---|
| Genes involved in DBA* | |||
| RPS19 | eS19 | 25%-30% | 7,51,53-55,102 |
| Large deletions | 10%-20% | 60,66-69 | |
| RPL5 | uL18 | 7%-12% | 7,57-59 |
| RPS26 | eS26 | 6.6%-9% | 7,64 |
| RPL11 | uL5 | 5%-7% | 7,57-59 |
| RPL35a | eL33 | 2%-3% | 7,60 |
| RPS10 | eS10 | 1%-3% | 7,64 |
| RPS24 | eS24 | 2.4%-3% | 7,61 |
| RPS17 | eS17 | 1%-3% | 7,62,63 |
| RPL15 | eL15 | 1 case | 12,73 |
| 6 cases | |||
| RPS28 | eS28 | 2 families | 48 |
| RPS29 | uS14 | 2 families | 71 |
| RPS7 | eS7 | 1 case | 58 |
| RPS15 | uS19 | 1 case | 58 |
| RPS27a | eS31 | 1 case | 58 |
| RPS27 | eS27 | 1 case | 70 |
| RPL9 | uL6 | 1 case | 58 |
| RPL18 | eL18 | 1 family | 71 |
| RPL26 | uL24 | 1 case | 74 |
| RPL27 | eL27 | 1 case | 70 |
| RPL31 | eL31 | 1 case | 75 |
| TSR2 (X linked)† | 1 family | 48 | |
| Genes involved in DBA-like diseases | |||
| GATA1 (X linked)‡ | 5 families | 47,77-80 | |
| EPO | 1 case | 46 | |
| ADA2§ | 9 individuals | 7 |
Data adapted.49
Defect in rRNA maturation as the signature of DBA.
Not an RP gene, but its protein product is involved in pre-rRNA maturation processing and binds to RPS26.
Whether GATA1 gene mutations are causative of DBA phenotypes is still being debated.
The ADA2 gene is not a classical DBA gene because of its involvement in DADA2 syndrome. Because erythroblastopenia is often a feature of patients with a mutated ADA2 gene, various groups in the DBA field choose to include it.