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A novel pathogenic variant in MRAP2 in an obese patient with successful outcome of bariatric surgery

dc.rights.licenseopenen_US
hal.structure.identifierNeurocentre Magendie : Physiopathologie de la Plasticité Neuronale [U1215 Inserm - UB]
dc.contributor.authorGATTA-CHERIFI, Blandine
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
dc.contributor.authorLABOYE, Alexandre
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
dc.contributor.authorGRONNIER, Caroline
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
dc.contributor.authorMONSAINGEON-HENRY, Maud
hal.structure.identifierUniversité de Lille
dc.contributor.authorMEULEBROUCK, Sarah
hal.structure.identifierUniversité de Lille
dc.contributor.authorBARON, Morgane
hal.structure.identifierCHU Pitié-Salpêtrière [AP-HP]
dc.contributor.authorBERTIN, Françoise
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
dc.contributor.authorPUPIER, Emilie
hal.structure.identifierHôpital Haut-Lévêque [CHU Bordeaux]
dc.contributor.authorCAMBOS, Sophie
hal.structure.identifierSorbonne Université [SU]
dc.contributor.authorPOITOU, Christine
hal.structure.identifierSorbonne Université [SU]
dc.contributor.authorLE BEYEC-LE BIHAN, Johanne
hal.structure.identifierUniversité de Lille
dc.contributor.authorBONNEFOND, Amélie
dc.date.accessioned2024-03-26T14:39:53Z
dc.date.available2024-03-26T14:39:53Z
dc.date.issued2023-10-17
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188988
dc.description.abstractEnMutations in genes encoding proteins located in the leptin/melanocortin pathway have been identified in the rare cases of genetic obesities. Heterozygous variants of MRAP2, encoding a G coupled-protein receptor accessory protein implicated in energy control notably via the melanocortin-4 receptor, have been recently identified. A 24-year-old patient with early-onset severe obesity (body mass index [BMI]: 64 kg/m2) associated with hypertension, respiratory complications, nonalcoholic fatty liver disease, and type 2 diabetes was referred to our department. Sleeve gastrectomy was successful. A new heterozygous variant in MRAP2 (NM_138409.4: c.154G>C/p.G52R) variant was identified in the patient DNA. Functional assessment confirmed that this new variant was pathogenic. We report a new pathogenic loss-of-function mutation in MRAP2 in a patient suffering from a severe multicomplicated obesity. This confirms the metabolic phenotype in patients with this monogenic form of obesity. Longer follow-up will be necessary. Our finding will allow a personalized medicine. © The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
dc.language.isoENen_US
dc.subject.enMRAP2
dc.subject.enBariatric surgery
dc.subject.enGenetic obesity
dc.subject.enLeptin–melanocortin pathway
dc.subject.enPersonalized medicine
dc.title.enA novel pathogenic variant in MRAP2 in an obese patient with successful outcome of bariatric surgery
dc.title.alternativeEur J Endocrinolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1093/ejendo/lvad132en_US
dc.subject.halSciences du Vivant [q-bio]/Neurosciences [q-bio.NC]en_US
dc.identifier.pubmed37888144en_US
bordeaux.journalEuropean journal of endocrinologyen_US
bordeaux.pageK15-K18en_US
bordeaux.volume189en_US
bordeaux.hal.laboratoriesNeurocentre Magendie - U1215en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamPhysiopathologie de l'équilibre énergétique et obésitéen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20journal%20of%20endocrinology&rft.date=2023-10-17&rft.volume=189&rft.issue=4&rft.spage=K15-K18&rft.epage=K15-K18&rft.au=GATTA-CHERIFI,%20Blandine&LABOYE,%20Alexandre&GRONNIER,%20Caroline&MONSAINGEON-HENRY,%20Maud&MEULEBROUCK,%20Sarah&rft.genre=article


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