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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

  • Author(s): Bolze, Alexandre
  • Mahlaoui, Nizar
  • Byun, Minji
  • Turner, Bridget
  • Trede, Nikolaus
  • Ellis, Steven R
  • Abhyankar, Avinash
  • Itan, Yuval
  • Patin, Etienne
  • Brebner, Samuel
  • Sackstein, Paul
  • Puel, Anne
  • Picard, Capucine
  • Abel, Laurent
  • Quintana-Murci, Lluis
  • Faust, Saul N
  • Williams, Anthony P
  • Baretto, Richard
  • Duddridge, Michael
  • Kini, Usha
  • Pollard, Andrew J
  • Gaud, Catherine
  • Frange, Pierre
  • Orbach, Daniel
  • Emile, Jean-Francois
  • Stephan, Jean-Louis
  • Sorensen, Ricardo
  • Plebani, Alessandro
  • Hammarstrom, Lennart
  • Conley, Mary Ellen
  • Selleri, Licia
  • Casanova, Jean-Laurent
  • et al.
Abstract

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.

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