Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/48610
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dc.contributor.authorBolze, Alexandreen_US
dc.contributor.authorBoisson, Bertranden_US
dc.contributor.authorBosch, Barbaraen_US
dc.contributor.authorAntipenko, Alexanderen_US
dc.contributor.authorBouaziz, Matthieuen_US
dc.contributor.authorSackstein, Paulen_US
dc.contributor.authorChaker-Margot, Maliken_US
dc.contributor.authorBarlogis, Vincenten_US
dc.contributor.authorBriggs, Tracyen_US
dc.contributor.authorColino, Elenaen_US
dc.contributor.authorElmore, Aurora C.en_US
dc.contributor.authorFischer, Alainen_US
dc.contributor.authorGenel, Ferahen_US
dc.contributor.authorHewlett, Angelaen_US
dc.contributor.authorJedidi, Maheren_US
dc.contributor.authorKelecic, Jadrankaen_US
dc.contributor.authorKrüger, Renateen_US
dc.contributor.authorKu, Cheng Lungen_US
dc.contributor.authorKumararatne, Dinakanthaen_US
dc.contributor.authorLefevre-Utile, Alainen_US
dc.contributor.authorLoughlin, Samen_US
dc.contributor.authorMahlaoui, Nizaren_US
dc.contributor.authorMarkus, Susanneen_US
dc.contributor.authorGarcia, Juan Miguelen_US
dc.contributor.authorNizon, Mathildeen_US
dc.contributor.authorOleastro, Matiasen_US
dc.contributor.authorPac, Malgorzataen_US
dc.contributor.authorPicard, Capucineen_US
dc.contributor.authorPollard, Andrew J.en_US
dc.contributor.authorRodriguez-Gallego, Carlosen_US
dc.contributor.authorThomas, Carolineen_US
dc.contributor.authorBernuth, Horst Vonen_US
dc.contributor.authorWorth, Austenen_US
dc.contributor.authorMeyts, Isabelleen_US
dc.contributor.authorRisolino, Maurizioen_US
dc.contributor.authorSelleri, Liciaen_US
dc.contributor.authorPuel, Anneen_US
dc.contributor.authorKlinge, Sebastianen_US
dc.contributor.authorAbel, Laurenten_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.date.accessioned2018-11-23T23:21:39Z-
dc.date.available2018-11-23T23:21:39Z-
dc.date.issued2018en_US
dc.identifier.issn0027-8424en_US
dc.identifier.urihttp://hdl.handle.net/10553/48610-
dc.description.abstractIsolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here 11 new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5′-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that 6 of 18 (33%) protein-coding mutations and the two (100%) 5′-UTR mutations display incomplete penetrance. Three mutations were identified in two independent kindreds, due to a hotspot or a founder effect. Finally, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetranceen_US
dc.languageengen_US
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_US
dc.sourceProceedings of the National Academy of Sciences of the United States of America[ISSN 0027-8424],v. 115, p. E8007-E8016en_US
dc.subject32 Ciencias médicasen_US
dc.subject3205 Medicina internaen_US
dc.subject.otherIsolated congenital aspleniaen_US
dc.subject.otherSpleenen_US
dc.subject.otherincomplete penetranceIen_US
dc.subject.otherRibosomopathyen_US
dc.subject.otherRPSAen_US
dc.titleIncomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exonsen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1073/pnas.1805437115en_US
dc.identifier.scopus85051824997-
dc.contributor.authorscopusid36468055100-
dc.contributor.authorscopusid23484212500-
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dc.contributor.authorscopusid6603067223-
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dc.contributor.authorscopusid7101616884-
dc.contributor.authorscopusid7103193821-
dc.contributor.authorscopusid6602114379-
dc.contributor.authorscopusid35448669600-
dc.contributor.authorscopusid6507779573-
dc.contributor.authorscopusid12786401200-
dc.contributor.authorscopusid56999018500-
dc.contributor.authorscopusid55656661200-
dc.contributor.authorscopusid7004307608-
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dc.contributor.authorscopusid21234197400-
dc.contributor.authorscopusid7103216988-
dc.contributor.authorscopusid7201863327-
dc.description.lastpageE8016en_US
dc.description.firstpageE8007en_US
dc.relation.volume115en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages10en_US
dc.utils.revisionen_US
dc.date.coverdateAgosto 2018en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr5,601-
dc.description.jcr9,58-
dc.description.sjrqQ1-
dc.description.jcrqQ1-
dc.description.scieSCIE-
dc.description.erihplusERIH PLUS
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Farmacología Molecular y Traslacional-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-4344-8644-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameRodríguez Gallego, José Carlos-
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