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Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity

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dc.creatorYupanqui-Lozno, Hernanspa
dc.creatorBastarrachea, Raul A.spa
dc.creatorYupanqui-Velazco, Maria E.spa
dc.creatorAlvarez-Jaramillo, Monicaspa
dc.creatorMedina-Méndez, Estebanspa
dc.creatorGiraldo-Peña, Aida P.spa
dc.creatorArias-Serrano, Alexandraspa
dc.creatorTorres-Forero, Carolinaspa
dc.creatorGarcia-Ordoñez, Angelica M.spa
dc.creatorMastronardi, Claudio A.spa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorRodriguez-Ayala, Ernestospa
dc.creatorNava-Gonzalez, Edna J.spa
dc.creatorArcos-Burgos, Mauriciospa
dc.creatorKent, Jack W.spa
dc.creatorCole, Shelley A.spa
dc.creatorLicinio, Juliospa
dc.creatorCelis-Regalado, Luis G.spa
dc.date.accessioned2020-05-26T00:09:13Z
dc.date.available2020-05-26T00:09:13Z
dc.date.created2019spa
dc.description.abstractBackground: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenomenon of biologically inactive leptin, but typically lead to an absence of circulating leptin, resulting in a rare type of monogenic extreme obesity with intense hyperphagia, and serious metabolic abnormalities. Methods: We present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including LEP. Results: Direct sequencing of the coding region of LEP gene in the sisters revealed a novel homozygous missense mutation in exon 3 [NM_002303.3], C350G>T [p.C117F]. Detailed information and clinical measurements of these sisters were also collected. Their serum leptin levels were undetectable despite their markedly elevated fat mass. Conclusions: The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America. © 2019 by the authors. Licensee MDPI, Basel, Switzerland.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.3390/genes10050342
dc.identifier.issn20734425
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24144
dc.language.isoengspa
dc.publisherMDPI AGspa
dc.relation.citationIssueNo. 5
dc.relation.citationTitleGenes
dc.relation.citationVolumeVol. 10
dc.relation.ispartofGenes, ISSN:20734425, Vol.10, No.5 (2019)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85072815955&doi=10.3390%2fgenes10050342&partnerID=40&md5=e37232448f2c599cb2e98c40362556e2spa
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.keywordEstradiolspa
dc.subject.keywordFollitropinspa
dc.subject.keywordGemfibrozilspa
dc.subject.keywordGenomic dnaspa
dc.subject.keywordGlucosespa
dc.subject.keywordHemoglobin a1cspa
dc.subject.keywordHigh density lipoprotein cholesterolspa
dc.subject.keywordInsulinspa
dc.subject.keywordLeptinspa
dc.subject.keywordLuteinizing hormonespa
dc.subject.keywordMetforminspa
dc.subject.keywordProlactinspa
dc.subject.keywordThyrotropinspa
dc.subject.keywordTriacylglycerolspa
dc.subject.keywordAcnespa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAmenorrheaspa
dc.subject.keywordArticlespa
dc.subject.keywordBody massspa
dc.subject.keywordBody weight gainspa
dc.subject.keywordCase reportspa
dc.subject.keywordChildspa
dc.subject.keywordChildhood obesityspa
dc.subject.keywordClinical articlespa
dc.subject.keywordClinical featurespa
dc.subject.keywordClinodactylyspa
dc.subject.keywordColombianspa
dc.subject.keywordConsanguinityspa
dc.subject.keywordDietary intakespa
dc.subject.keywordDisease severityspa
dc.subject.keywordDna sequencespa
dc.subject.keywordEnzyme linked immunosorbent assayspa
dc.subject.keywordExonspa
dc.subject.keywordFat massspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene insertionspa
dc.subject.keywordHirsutismspa
dc.subject.keywordHomozygosityspa
dc.subject.keywordHumanspa
dc.subject.keywordHypertriglyceridemiaspa
dc.subject.keywordInsulin resistancespa
dc.subject.keywordKnee painspa
dc.subject.keywordLep genespa
dc.subject.keywordLepr genespa
dc.subject.keywordLeptin deficiencyspa
dc.subject.keywordMc4r genespa
dc.subject.keywordMissense mutationspa
dc.subject.keywordMorbid obesityspa
dc.subject.keywordNail hypoplasiaspa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPcsk1 genespa
dc.subject.keywordPedigreespa
dc.subject.keywordPhysical examinationspa
dc.subject.keywordPoint mutationspa
dc.subject.keywordPomc genespa
dc.subject.keywordPparg genespa
dc.subject.keywordPreschool childspa
dc.subject.keywordProtein blood levelspa
dc.subject.keywordSchool childspa
dc.subject.keywordSleeve gastrectomyspa
dc.subject.keywordStrabismusspa
dc.subject.keywordTelangiectasiaspa
dc.subject.keywordWalkingspa
dc.subject.keywordYoung adultspa
dc.subject.keywordColombian sistersspa
dc.subject.keywordCongenital leptin deficiencyspa
dc.subject.keywordConsanguinityspa
dc.subject.keywordExtreme obesityspa
dc.subject.keywordLep genespa
dc.subject.keywordNovel mutationspa
dc.titleCongenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesityspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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