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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

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dc.creatorDiggle, Christine P.spa
dc.creatorParry, David A.spa
dc.creatorLogan, Clare V.spa
dc.creatorLaissue, Paulspa
dc.creatorRivera, Carolinaspa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorMorgan, Joanne E.spa
dc.creatorAllanore, Yannickspa
dc.creatorFontenay, Michaelaspa
dc.creatorWipff, Julienspa
dc.creatorVarret, Mathildespa
dc.creatorGibault, Laurespa
dc.creatorDalantaeva, Nadezhdaspa
dc.creatorKorbonits, Mártaspa
dc.creatorZhou, Bowenspa
dc.creatorYuan, Gangspa
dc.creatorHarifi, Ghitaspa
dc.creatorCefle, Kivancspa
dc.creatorPalanduz, Sukruspa
dc.creatorAkoglu, Hadimspa
dc.creatorZwijnenburg, Petra J.spa
dc.creatorLichtenbelt, Klaske D.spa
dc.creatorAubry?Rozier, Bérengèrespa
dc.creatorSuperti?Furga, Andreaspa
dc.creatorDallapiccola, Brunospa
dc.creatorAccadia, Mariaspa
dc.creatorBrancati, Francescospa
dc.creatorSheridan, Eamonn G.spa
dc.creatorTaylor, Graham R.spa
dc.creatorCarr, Ian M.spa
dc.creatorJohnson, Colin A.spa
dc.creatorMarkham, Alexander F.spa
dc.creatorBonthron, David T.spa
dc.date.accessioned2020-05-26T00:10:25Z
dc.date.available2020-05-26T00:10:25Z
dc.date.created2012spa
dc.description.abstractPachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E2 (PGE2) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE2, but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE2 metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. © 2012 Wiley Periodicals, Inc.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/humu.22111
dc.identifier.issn10981004
dc.identifier.issn10597794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24227
dc.language.isoengspa
dc.relation.citationEndPage1181
dc.relation.citationIssueNo. 8
dc.relation.citationStartPage1175
dc.relation.citationTitleHuman Mutation
dc.relation.citationVolumeVol. 33
dc.relation.ispartofHuman Mutation, ISSN:10981004, 10597794, Vol.33, No.8 (2012); pp. 1175-1181spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84863859795&doi=10.1002%2fhumu.22111&partnerID=40&md5=cb9d6974f7502abe963c1693be4e5ccespa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keyword15 hydroxyprostaglandin dehydrogenasespa
dc.subject.keywordprimary hypertrophiceng
dc.subject.keywordCarrier proteinspa
dc.subject.keywordProstaglandin e receptor 1spa
dc.subject.keywordProstaglandin e receptor 2spa
dc.subject.keywordProstaglandin e receptor 3spa
dc.subject.keywordProstaglandin e receptor 4spa
dc.subject.keywordProstaglandin e2spa
dc.subject.keywordSlco2a1 proteinspa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordChildspa
dc.subject.keywordControlled studyspa
dc.subject.keywordEthnicityspa
dc.subject.keywordExomespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene rearrangementspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic associationspa
dc.subject.keywordHumanspa
dc.subject.keywordMissense mutationspa
dc.subject.keywordMyelofibrosisspa
dc.subject.keywordNonsense mutationspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordOsteoarthropathyspa
dc.subject.keywordPachydermoperiostosisspa
dc.subject.keywordPopulation geneticsspa
dc.subject.keywordPriority journalspa
dc.subject.keywordProstaglandin metabolismspa
dc.subject.keywordSchool childspa
dc.subject.keywordStop codonspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordChildspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordOrganic anion transportersspa
dc.subject.keywordOsteoarthropathyeng
dc.subject.keywordPrimary myelofibrosisspa
dc.subject.keywordProstaglandinsspa
dc.subject.keywordYoung adultspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMyelofibrosisspa
dc.subject.keywordOsteoarthropathyspa
dc.subject.keywordProstaglandinspa
dc.subject.keywordSlc02a1spa
dc.titleProstaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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