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last update : 07-10-2009
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
    Prevalence mutated in 25 p100 of DBA patients
    Function/system disorder hematology
    Type disease
    Gene product
    Name ribosomal protein S19
    Gene mutationChromosome rearrangementEffectComments
    nonsense   haploinsufficiency  
      deletion haploinsufficiency interstitial microdeletion encompassing RPS19 in some cases
  • 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)