Published in

American Academy of Pediatrics, Pediatrics, Supplement_1(132), p. S52-S53, 2013

DOI: 10.1542/peds.2013-2294iiii

Links

Tools

Export citation

Search in Google Scholar

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

Journal article published in 2013 by Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, C. Pickard, Steven R. Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner, Paul Sackstein, Anne Puel, Capucine Picard ORCID, Laurent Abel and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Red circle
Preprint: archiving forbidden
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

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, a frameshift duplication and five different missense - cause autosomal dominant ICA by haploinsufficiency. Population genetic studies showed that RPSA was subject to purifying selection. 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.