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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

  • Author(s): Bolze, A
  • Mahlaoui, N
  • Byun, M
  • Turner, B
  • Trede, N
  • Ellis, SR
  • Abhyankar, A
  • Itan, Y
  • Patin, E
  • Brebner, S
  • Sackstein, P
  • Puel, A
  • Picard, C
  • Abel, L
  • Quintana-Murci, L
  • Faust, SN
  • Williams, AP
  • Baretto, R
  • Duddridge, M
  • Kini, U
  • Pollard, AJ
  • Gaud, C
  • Frange, P
  • Orbach, D
  • Emile, JF
  • Stephan, JL
  • Sorensen, R
  • Plebani, A
  • Hammarstrom, L
  • Conley, ME
  • Selleri, L
  • Casanova, JL
  • 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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