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Uveitis and Multiple Sclerosis: Potential Common Causal Mutations

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dc.creatorde-la-Torre, Alejandraspa
dc.creatorSilva-Aldana, Claudia T.spa
dc.creatorMuñoz-Ortiz, Julianaspa
dc.creatorPiñeros-Hernández, Laura B.spa
dc.creatorOtero, Oscarspa
dc.creatorDomínguez, Alejandraspa
dc.creatorFaciolince, León A.spa
dc.creatorArcos-Holzinger, Mauriciospa
dc.creatorMastronardi, Claudiospa
dc.creatorContreras Bravo, Nora Constanzaspa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorArcos-Burgos, Mauricio
dc.date.accessioned2020-05-25T23:57:10Z
dc.date.available2020-05-25T23:57:10Z
dc.date.created2019spa
dc.description.abstractUveitis, defined as inflammation of the uveal tract of the eye, is a leading cause of blindness and visual impairment throughout the world. The etiology of uveitis is complex, and autoimmunity plays a major role in its pathogenesis. Intermediate uveitis (IU), a subtype of ocular inflammation, has been associated with systemic autoimmune disorders, specifically with multiple sclerosis (MS). This article reports a rare three-generation family with several members affected by IU (four siblings) and comorbid MS (two siblings fulfilling MS diagnostic criteria and a third sibling presenting some neurological symptoms). Based on the clinical findings, we captured and sequenced whole exomes of seven pedigree members (affected and unaffected). Using a recessive model of transmission with full penetrance, we applied genetic linkage analysis to define minimal critical regions (MCRs) in suggestive or nominal regions of linkage. In these MCRs, we defined functional (some pathogenic), novel, and rare mutations that segregated as homozygous in affected and heterozygous in unaffected family members. The genes harboring these mutations, including DGKI, TNFRSF10A, GNGT1, CPAMD8, and BAFF, which are expressed in both eye and brain tissues and/or are related to autoimmune diseases, provide new avenues to evaluate the inherited causes of these devastating autoimmune conditions. © 2019, The Author(s).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/s12035-019-1630-2
dc.identifier.issn8937648
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22619
dc.language.isoengspa
dc.publisherHumana Press Inc.spa
dc.relation.citationEndPage8017
dc.relation.citationIssueNo. 12
dc.relation.citationStartPage8008
dc.relation.citationTitleMolecular Neurobiology
dc.relation.citationVolumeVol. 56
dc.relation.ispartofMolecular Neurobiology, ISSN:8937648, Vol.56, No.12 (2019); pp. 8008-8017spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85067029220&doi=10.1007%2fs12035-019-1630-2&partnerID=40&md5=5c91fcb0538de20d788bc5b5517414dcspa
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.keywordB cell activating factorspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordBAFF genespa
dc.subject.keywordChildspa
dc.subject.keywordComorbidityspa
dc.subject.keywordControlled studyspa
dc.subject.keywordCPAMD8 genespa
dc.subject.keywordDGKI genespa
dc.subject.keywordDisease associationspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene expressionspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene segregationspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordGNGT1 genespa
dc.subject.keywordHeterozygosityspa
dc.subject.keywordHomozygosityspa
dc.subject.keywordHumanspa
dc.subject.keywordIntermediate uveitisspa
dc.subject.keywordMalespa
dc.subject.keywordMinimal critical regionspa
dc.subject.keywordMultiple sclerosisspa
dc.subject.keywordPathogenesisspa
dc.subject.keywordSchool childspa
dc.subject.keywordTNFRSF10A genespa
dc.subject.keywordWhole exome sequencingspa
dc.subject.keywordYoung adultspa
dc.subject.keywordComplicationspa
dc.subject.keywordDiagnostic imagingspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMultiple sclerosisspa
dc.subject.keywordMutationspa
dc.subject.keywordPedigreespa
dc.subject.keywordProceduresspa
dc.subject.keywordUveitisspa
dc.subject.keywordChildspa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMultiple Sclerosisspa
dc.subject.keywordMutationspa
dc.subject.keywordPedigreespa
dc.subject.keywordUveitisspa
dc.subject.keywordWhole Exome Sequencingspa
dc.subject.keywordYoung Adultspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMultiple sclerosisspa
dc.subject.keywordMutationsspa
dc.subject.keywordPedigreespa
dc.subject.keywordUveitisspa
dc.subject.keywordWhole exome sequencingspa
dc.titleUveitis and Multiple Sclerosis: Potential Common Causal Mutationsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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