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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

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.
0036-8075
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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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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Bolze, A., Mahlaoui, N., Byun, M., Turner, B., Trede, N., Ellis, S.R., Abhyankar, A., Itan, Y., Patin, E., Brebner, S., Sackstein, P., Puel, A., Pickard, c., Abel, L., Quintana-Murci, L., Faust, S.N., Williams, A.P., Baretto, R., Duddridge, M., Kini, U., Pollard, A.J., Gaud, C., Frange, P., Orbach, D., Emile, J.F., Stephan, J.L., Sorensen, R., Plebani, A., Hammarstrom, L., Conley, M.E., Selleri, L. and Casanova, J.L. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science, 340 (6135), 976-978. (doi:10.1126/science.1234864). (PMID:23579497)

Record type: Article

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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More information

e-pub ahead of print date: 11 April 2013
Published date: 24 May 2013
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 353867
URI: https://eprints.soton.ac.uk/id/eprint/353867
ISSN: 0036-8075
PURE UUID: f7621092-dd25-4772-8471-b01b37dfe34e
ORCID for S.N. Faust: ORCID iD orcid.org/0000-0003-3410-7642

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Date deposited: 21 Jun 2013 13:44
Last modified: 06 Jun 2018 12:40

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Contributors

Author: A. Bolze
Author: N. Mahlaoui
Author: M. Byun
Author: B. Turner
Author: N. Trede
Author: S.R. Ellis
Author: A. Abhyankar
Author: Y. Itan
Author: E. Patin
Author: S. Brebner
Author: P. Sackstein
Author: A. Puel
Author: c. Pickard
Author: L. Abel
Author: L. Quintana-Murci
Author: S.N. Faust ORCID iD
Author: A.P. Williams
Author: R. Baretto
Author: M. Duddridge
Author: U. Kini
Author: A.J. Pollard
Author: C. Gaud
Author: P. Frange
Author: D. Orbach
Author: J.F. Emile
Author: J.L. Stephan
Author: R. Sorensen
Author: A. Plebani
Author: L. Hammarstrom
Author: M.E. Conley
Author: L. Selleri
Author: J.L. Casanova

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