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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

2019; Elsevier BV; Volume: 104; Issue: 5 Linguagem: Inglês

10.1016/j.ajhg.2019.04.010

1537-6605

Laura Remacha, David Pirman, Christopher E. Mahoney, Javier Pardo de Santayana y Coloma, Bruna Calsina, María Currás-Freixes, Rocío Letón, Rafael Torres‐Pérez, Susan Richter, Guillermo Pita, Belén Herráez, Giovanni Cianchetta, Emiliano Honrado, Lorena Maestre, Miguel Urioste, Javier Aller, Óscar García-Uriarte, María A. Gálvez, Raúl M. Luque, Marcos Lahera, Cristina Moreno-Rengel, Graeme Eisenhofer, Cristina Montero‐Conde, Cristina Rodríguez‐Antona, Óscar Llorca, Gromoslaw A. Smolen, Mercedes Robledo, Alberto Cascón,

Cancer, Lipids, and Metabolism

(The American Journal of Human Genetics 104, 651–664; April 4, 2019) In the original article, Figure 3 was mislabeled. In panels C and D, the substitution p.Gly374Glu was incorrectly labeled as p.Gly374Arg in the bar graphs. The article has now been corrected online. The authors regret this error and apologize for any confusion that may have resulted.Figure 3. Functional Analysis of DLST Variants (Original)View Large Image Figure ViewerDownload Hi-res image Download (PPT) Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and ParagangliomasRemacha et al.The American Journal of Human GeneticsMarch 28, 2019In BriefPheochromocytomas and paragangliomas (PPGLs) provide some of the clearest genetic evidence for the critical role of metabolism in the tumorigenesis process. Approximately 40% of PPGLs are caused by driver germline mutations in 16 known susceptibility genes, and approximately half of these genes encode members of the tricarboxylic acid (TCA) cycle. Taking as a starting point the involvement of the TCA cycle in PPGL development, we aimed to identify unreported mutations that occurred in genes involved in this key metabolic pathway and that could explain the phenotypes of additional individuals who lack mutations in known susceptibility genes. Full-Text PDF Open Archive