RGD Reference Report - The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. - Rat Genome Database

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Authors: Draptchinskaia, N  Gustavsson, P  Andersson, B  Pettersson, M  Willig, TN  Dianzani, I  Ball, S  Tchernia, G  Klar, J  Matsson, H  Tentler, D  Mohandas, N  Carlsson, B  Dahl, N 
Citation: Draptchinskaia N, etal., Nat Genet. 1999 Feb;21(2):169-75.
RGD ID: 1599571
Pubmed: (View Article at PubMed) PMID:9988267
DOI: Full-text: DOI:10.1038/5951

Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.


Disease Annotations    

Objects Annotated

Genes (Mus musculus)
Rps19  (ribosomal protein S19)

Genes (Homo sapiens)
RPS19  (ribosomal protein S19)

Objects referenced in this article
Gene Rps19 ribosomal protein S19 Rattus norvegicus

Additional Information