TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic Variants
© American College of Medical Genetics and Genomics ARTICLE Corrected: Correction TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Jennifer N. Dines, MD1,2, Katie Golden-Grant, MS2, Amy LaCroix, BS3, Alison M. Muir, PhD3, Dianne Laboy Cintrón3, Kirsty McWalter, MS4, Megan T. Cho, ScM4, Angela Sun, MD3, J. Lawrence Merritt, MD3, Jenny Thies, MS2, Dmitriy Niyazov, MD5, Barbara Burton, MD6, Katherine Kim, MS6, Leah Fleming, MD7, Rachel Westman, MS7, Peter Karachunski, MD8, Joline Dalton, MS8, Alice Basinger, MD, PhD9, Can Ficicioglu, MD, PhD10, Ingo Helbig, MD10,11, Manuela Pendziwiat, MS11, Hiltrud Muhle, MD11, Katherine L. Helbig, MS10, Almuth Caliebe, MD12, René Santer, MD13, Kolja Becker, MD11, Sharon Suchy, PhD4, Ganka Douglas, PhD4, Francisca Millan, MD4, Amber Begtrup, PhD4, Kristin G. Monaghan, PhD4 and Heather C. Mefford, MD, PhD3 Purpose: TANGO2-related disorders were first described in 2016 presentations. We expand the phenotype and genotype for and prior to this publication, only 15 individuals with TANGO2- TANGO2, highlighting the variability of the disorder. related disorder were described in the literature. Primary features Conclusion: TANGO2-related disorders can have a more diverse include metabolic crisis with rhabdomyolysis, encephalopathy, clinical presentation than previously anticipated. We illustrate the intellectual disability, seizures, and cardiac arrhythmias. We assess TANGO2 utility of routine ES data reanalysis whereby discovery of novel whether genotype and phenotype of -related disorder has disease genes can lead to a diagnosis in previously unsolved cases expanded since the initial discovery and determine the efficacy of and the need for additional copy-number variation analysis when exome sequencing (ES) as a diagnostic tool for detecting variants.
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