| First Author | Bolze A | Year | 2013 |
| Journal | Science | Volume | 340 |
| Issue | 6135 | Pages | 976-8 |
| PubMed ID | 23579497 | Mgi Jnum | J:198341 |
| Mgi Id | MGI:5496447 | Doi | 10.1126/science.1234864 |
| Citation | Bolze A, et al. (2013) Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science 340(6135):976-8 |
| abstractText | 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. |
