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

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, h...

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Published in:European journal of endocrinology 2023-10, Vol.189 (4), p.K15-K18
Main Authors: Gatta-Cherifi, Blandine, Laboye, Alexandre, Gronnier, Caroline, Monsaingeon-Henry, Maud, Meulebrouck, Sarah, Baron, Morgane, Bertin, Françoise, Pupier, Emilie, Cambos, Sophie, Poitou, Christine, Beyec-Le Bihan, Johanne Le, Bonnefond, Amélie
Format: Article
Language:English
Subjects:
Genetics
Human genetics
Life Sciences
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Summary: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.
ISSN:0804-4643
1479-683X
DOI:10.1093/ejendo/lvad132