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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,8,21]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth without any other developmental defect. ICA predisposes individuals to severe bacterial infections early in childhood. In 2013, we showed that very rare deleterious mutations in the protein-coding region of RPSA, which codes for a protein in the ribosome, caused ICA in 8 of 23 kindreds. We have since enrolled 33 more kindreds and identified 11 new ICA-causing RPSA protein-coding mutations, as well as the first two ICA-causing mutations in the 5\u2032-UTR of this gene. A few individuals carrying one of the new RPSA mutations had a spleen, indicating that mutations in RPSA can cause ICA with incomplete penetrance.<\/jats:p>","DOI":"10.1073\/pnas.1805437115","type":"journal-article","created":{"date-parts":[[2018,8,2]],"date-time":"2018-08-02T17:15:48Z","timestamp":1533230148000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":41,"title":["Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated\n                    <i>RPSA<\/i>\n                    exons"],"prefix":"10.1073","volume":"115","author":[{"given":"Alexandre","family":"Bolze","sequence":"first","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065;"},{"name":"Helix, San Carlos, CA 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