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Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

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dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorPatiño, Liliana Catherinespa
dc.creatorSuárez, Yohjana Carolinaspa
dc.creatorde Jesús Rodríguez, Asidspa
dc.creatorMateus, Heidi Elianaspa
dc.creatorJiménez, Karen Marcelaspa
dc.creatorOrtega-Recalde, Oscarspa
dc.creatorDíaz-Yamal, Ivonnespa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-26T00:08:08Z
dc.date.available2020-05-26T00:08:08Z
dc.date.created2015spa
dc.description.abstractObjective To identify new molecular actors involved in nonsyndromic premature ovarian failure (POF) etiology. Design This is a retrospective case-control cohort study. Setting University research group and IVF medical center. Patient(s) Twelve women affected by nonsyndromic POF. The control group included 176 women whose menopause had occurred after age 50 and had no antecedents regarding gynecological disease. A further 345 women from the same ethnic origin (general population group) were also recruited to assess allele frequency for potentially deleterious sequence variants. Intervention(s) Next generation sequencing (NGS), Sanger sequencing, and bioinformatics analysis. Main Outcome Measure(s) The complete coding regions of 70 candidate genes were massively sequenced, via NGS, in POF patients. Bioinformatics and genetics were used to confirm NGS results and to identify potential sequence variants related to the disease pathogenesis. Result(s) We have identified mutations in two novel genes, ADAMTS19 and BMPR2, that are potentially related to POF origin. LHCGR mutations, which might have contributed to the phenotype, were also detected. Conclusion(s) We thus recommend NGS as a powerful tool for identifying new molecular actors in POF and for future diagnostic/prognostic purposes. © 2015 American Society for Reproductive Medicine.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.fertnstert.2015.04.016
dc.identifier.issn150282
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24058
dc.language.isoengspa
dc.publisherElsevier Inc.spa
dc.relation.citationEndPage162.e2
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage154
dc.relation.citationTitleFertility and Sterility
dc.relation.citationVolumeVol. 104
dc.relation.ispartofFertility and Sterility, ISSN:150282, Vol.104, No.1 (2015); pp. 154-162.e2spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84937520289&doi=10.1016%2fj.fertnstert.2015.04.016&partnerID=40&md5=7fdf2a17f5f40396db12b05b2fb89255spa
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.keywordAdamts19 genespa
dc.subject.keywordhumaneng
dc.subject.keywordArticlespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordBmpr2 genespa
dc.subject.keywordCase control studyspa
dc.subject.keywordCohort analysisspa
dc.subject.keywordComputer modelspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordHumanspa
dc.subject.keywordLhcgr genespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMenopausespa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.subject.keywordRetrospective studyspa
dc.subject.keywordSanger sequencingspa
dc.subject.keywordGeneticsspa
dc.subject.keywordHigh throughput sequencingspa
dc.subject.keywordMutationspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordProceduresspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordAdam proteinspa
dc.subject.keywordAdamts19 proteineng
dc.subject.keywordBmpr2 proteineng
dc.subject.keywordBone morphogenetic protein receptor 2spa
dc.subject.keywordAdam proteinsspa
dc.subject.keywordAdultspa
dc.subject.keywordBone morphogenetic protein receptorseng
dc.subject.keywordCase-control studiesspa
dc.subject.keywordCohort studiesspa
dc.subject.keywordFemalespa
dc.subject.keywordHigh-throughput nucleotide sequencingspa
dc.subject.keywordHumansspa
dc.subject.keywordMutationspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordRetrospective studiesspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordAdamts19spa
dc.subject.keywordBmpr2spa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPofspa
dc.subject.keywordPremature ovarian failurespa
dc.titleNext generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutationsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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