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In the present study, we report one case of carotid body PGL with a somatic mutation in the gene encoding isocitrate dehydrogenase 2 (IDH2). The missense mutation in IDH2 resulted in R172G amino acid substitution, which exhibits neomorphic activity and production of D-2-hydroxyglutarate.<\/jats:p>","DOI":"10.3389\/fendo.2021.731096","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T06:41:55Z","timestamp":1632120115000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body 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