A novel pathogenic variant in MRAP2 in an obese patient with successful outcome of bariatric surgery
Year: 2023
Type: article
Study design: Case Report
Abstract: 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.
Institutions: Centre Hospitalier Universitaire de Bordeaux, Neurocentre Magendie, Centre National de la Recherche Scientifique, Inserm, Université de Lille, Institut Pasteur de Lille, European Genomic Institute for Diabetes, (Epi)génomique fonctionnelle métabolique et des dysfonctions dans le diabète de type 2 et des maladies associées, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, Nutrition et obésité : approches systémiques, Centre de Recherche sur l'Inflammation, Imperial College London
Language: English
Subfield: Endocrine and Autonomic Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4387963404