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A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity.

Ana Carolina Proença da FonsecaGabriella de Medeiros AbreuLohanna PalhinhaVerônica Marques ZembrzuskiMário Campos JuniorJoão Régis Ivar CarneiroJosé Firmino Nogueira NetoFernanda Cristina C Mattos MagnoEliane Lopes RosadoClarissa Menezes Maya-MonteiroGiselda Maria Kalil de CabelloPedro Hernán Cabello AceroPatrícia Torres Bozza
Published in: Diabetes, metabolic syndrome and obesity : targets and therapy (2021)
We observed that the common BDNF p.(Val66Met) variant has influenced waist circumference, HDL-cholesterol, and MCP1 levels. This polymorphism has also a protective effect on metabolic syndrome susceptibility. Additionally, we described for the first time a rare potentially pathogenic BDNF variant in a Brazilian patient with severe obesity and childhood-onset.
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