The Gene Encoding Ribosomal Protein S19 Is Mutated in Diamond-Blackfan Anaemia

Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Chromosomes, Human, Pair 19 / genetics
  • Cosmids
  • Fanconi Anemia / genetics*
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Ribosomal Proteins / biosynthesis
  • Ribosomal Proteins / chemistry
  • Ribosomal Proteins / genetics*
  • Sequence Analysis, DNA
  • Translocation, Genetic
  • X Chromosome / genetics

Substances

  • Ribosomal Proteins
  • ribosomal protein S19

Associated data

  • GENBANK/AF092906
  • GENBANK/AF092907