| Symbol
| DBA
|
| Location
| 19q13.2
|
| Name
|
Diamond-Blackfan anemia |
| Corresponding gene
|
RPS19
|
| Other symbol(s)
| DEL19Q13
|
| Main clinical features
|
pure red-cell aplasia with a selective decrease in erythroid precursors
associated with macrocephaly, hypotonia, mental retardation and skeletal dysplasia in a microdeletion syndrome due to deletion of 19q13.2 |
| Genetic determination
| autosomal recessive |
|
| chromosomal |
| Prevalence
| mutated in 25 p100 of DBA patients
|
| Function/system disorder
| hematology |
| Type
| disease
|
| Name
| ribosomal protein S19
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| nonsense
|
| haploinsufficiency
|
| |
| deletion
| haploinsufficiency
| interstitial microdeletion encompassing RPS19 in some cases
| |
| Remark(s)
|
mutations alter the capacity of the protein to localize in nucleolar structure and these mutated RPS19 are very unstable and is unable to be assembled into mature ribosome
impaired translation may be the main cause of DBA pathogenesis
primary fibroblasts from DBA patients with truncating mutations in RPS19 have a marked reduction in proliferative capacity (Badhai 2009)
deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells (Kuramitsu 2008)
possible that the DBA mutations directly affect the nucleolus to destabilize or otherwise deregulate the coresident cell cycle machinery (Pederson 2007) |