Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

@article{MSc2018RoleOM,
  title={Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients},
  author={Bruna Calsina MSc and PhD Maria Curr{\'a}s-Freixes and Alexandre Buffet MSc and Tirso Pons and Laura Juarez Contreras and Roc{\'i}o Let{\'o}n BSc and I{\~n}aki Comino-M{\'e}ndez and Laura Remacha MSc and Maria Teresa Mart{\'i} Calatayud and Berta Obispo and Antoine Martin and R{\'e}gis Cohen and Susan Richter and PhD Judith Balma{\~n}a and Esther E. Korpershoek and Elena Rapizzi and Timo Deutschbein and Laurent Vroonen and Judith Favier and PhD Ronald R. de Krijger and PhD Martin Fassnacht and Felix Beuschlein and PhD Henri J. Timmers and Graeme Eisenhofer and PhD Massimo Mannelli and PhD Karel Pacak and Jorgina Satr{\'u}stegui and Cristina Rodr{\'i}guez-Antona and PhD Laurence Amar and Alberto Casc{\'o}n and Nicole Doelker and PhD Anne-Paule Gimenez-Roqueplo and Mercedes Robledo},
  journal={Genetics in Medicine},
  year={2018},
  volume={20},
  pages={1652-1662}
}
MDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype. Eight hundred thirty patients with PPGLs, negative for the main PPGL driver genes, were included in the study. Interpretation of variants of unknown significance (VUS) was… CONTINUE READING
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