Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Am J Hum Genet. 2006 Dec;79(6):1110-8. doi: 10.1086/510020. Epub 2006 Nov 2.

Abstract

Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Anemia, Diamond-Blackfan / genetics*
  • Base Sequence
  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / physiology
  • Case-Control Studies
  • Cells, Cultured
  • Female
  • Gene Expression Regulation
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Reference Values
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism
  • Ribosomes / genetics
  • Ribosomes / metabolism

Substances

  • RPS24 protein, human
  • Ribosomal Proteins
  • ribosomal protein S19