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Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Author information

1
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA.

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.

PMID:
23579497
PMCID:
PMC3677541
DOI:
10.1126/science.1234864
[Indexed for MEDLINE]
Free PMC Article

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