Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity

The Journal of Clinical Endocrinology and Metabolism
Maria Caterina De RosaVidhu V Thaker

Abstract

Mutations in melanocortin receptor (MC4R) are the most common cause of monogenic obesity in children of European ancestry, but little is known about their prevalence in children from the minority populations in the United States. This study aims to identify the prevalence of MC4R mutations in children with severe early-onset obesity of African American or Latino ancestry. Participants were recruited from the weight management clinics at two hospitals and from the institutional biobank at a third hospital. Sequencing of the MC4R gene was performed by whole exome or Sanger sequencing. Functional testing was performed to establish the surface expression of the receptor and cAMP response to its cognate ligand α-melanocyte-stimulating hormone. Three hundred twelve children (1 to 18 years old, 50% girls) with body mass index (BMI) >120% of 95th percentile of Centers for Disease Control and Prevention 2000 growth charts at an age <6 years, with no known pathological cause of obesity, were enrolled. Eight rare MC4R mutations (2.6%) were identified in this study [R7S, F202L (n = 2), M215I, G252D, V253I, I269N, and F284I], three of which were not previously reported (G252D, F284I, and R7S). The pathogenicity of selected variants was conf...Continue Reading

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Citations

Dec 17, 2019·The Journal of Clinical Endocrinology and Metabolism·Miguel Vázquez-MorenoDavid Meyre
Sep 22, 2020·International Journal of Obesity : Journal of the International Association for the Study of Obesity·Bahram NamjouJohn B Harley
Jan 8, 2021·Current Obesity Reports·Sarah Raatz, Amy C Gross
May 15, 2021·Current Obesity Reports·Veronica R JohnsonFatima Cody Stanford

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