Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
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.
976-978
Bolze, A.
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Mahlaoui, N.
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Byun, M.
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Turner, B.
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Trede, N.
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Ellis, S.R.
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Abhyankar, A.
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Itan, Y.
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Patin, E.
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Brebner, S.
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Sackstein, P.
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Puel, A.
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Pickard, c.
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Abel, L.
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Quintana-Murci, L.
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Faust, S.N.
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Williams, A.P.
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Baretto, R.
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Duddridge, M.
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Kini, U.
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Pollard, A.J.
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Gaud, C.
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Frange, P.
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Orbach, D.
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Emile, J.F.
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Stephan, J.L.
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Sorensen, R.
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Plebani, A.
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Hammarstrom, L.
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Conley, M.E.
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Selleri, L.
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Casanova, J.L.
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24 May 2013
Bolze, A.
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Mahlaoui, N.
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Byun, M.
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Turner, B.
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Trede, N.
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Ellis, S.R.
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Abhyankar, A.
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Itan, Y.
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Patin, E.
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Brebner, S.
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Sackstein, P.
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Puel, A.
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Pickard, c.
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Abel, L.
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Quintana-Murci, L.
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Faust, S.N.
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Williams, A.P.
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Baretto, R.
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Duddridge, M.
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Kini, U.
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Pollard, A.J.
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Gaud, C.
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Frange, P.
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Orbach, D.
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Emile, J.F.
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Stephan, J.L.
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Sorensen, R.
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Plebani, A.
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Hammarstrom, L.
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Conley, M.E.
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Selleri, L.
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Casanova, J.L.
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