GATTA-CHERIFI, Blandine; LABOYE, Alexandre; GRONNIER, Caroline; MONSAINGEON-HENRY, Maud; MEULEBROUCK, Sarah; BARON, Morgane; BERTIN, Françoise; PUPIER, Emilie; CAMBOS, Sophie; POITOU, Christine; LE BEYEC-LE BIHAN, Johanne; BONNEFOND, Amélie

doi:10.1093/ejendo/lvad132

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GATTA-CHERIFI, Blandine
Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale [U1215 Inserm - UB]

LABOYE, Alexandre
Hôpital Haut-Lévêque [CHU Bordeaux]

GRONNIER, Caroline

Hôpital Haut-Lévêque [CHU Bordeaux]

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European journal of endocrinology. 2023-10-17, vol. 189, n° 4, p. K15-K18

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Mutations 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.< Réduire

Mots clés en anglais

MRAP2

Bariatric surgery

Genetic obesity

Leptin–melanocortin pathway

Personalized medicine

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

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