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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Open accessAbstract
The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. A recurrent homozygous c.460G>A (p.Gly154Arg) mutation was found in four unrelated individuals of Hispanic/Latino origin, and a homozygous ∼34 kb deletion affecting exons 3-9 was observed in two families of European ancestry. One individual of mixed Hispanic/European descent was found to be compound heterozygous for c.460G>A (p.Gly154Arg) and the deletion of exons 3-9. Additionally, a homozygous exons 4-6 deletion was identified in a consanguineous Middle Eastern Arab family. No homozygotes have been reported for these changes in control databases. Fibroblasts derived from a subject with the recurrent c.460G>A (p.Gly154Arg) mutation showed evidence of increased endoplasmic reticulum stress and a reduction in Golgi volume density in comparison to control. Our results show that the c.460G>A (p.Gly154Arg) mutation and the exons 3-9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations.
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Metadata
- Authors
- Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., Gambin, T., Eldomery, M. K., Akdemir, Z. H. C., Emrick, L., Wilnai, Y., Schelley, S., Koenig, M. K., Memon, N., Farach, L. S., Coe, B. P., Azamian, M., Hernandez, P., Zapata, G., Jhangiani, S. N., Muzny, D. M., Lotze, T., Clark, G., Wilfong, A., Northrup, H., Adesina, A., Bacino, C. A., Scaglia, F., Bonnen, P. E., Crosson, J., Duis, J., Maegawa, G. H. B., Coman, D., Inwood, A., McGill, J., Boerwinkle, E., Graham, B., Beaudet, A., Eng, C. M., Hanchard, N. A., Xia, F., Orange, J. S., Gibbs, R. A., Lupski, J. R., & Yang, Y.
- Affiliations
- Baylor College of Medicine (US)
- Baylor Genetics (US)
- Texas Children's Hospital (US)
- Washington University in St. Louis (US)
- Stanford Medicine (US)
- The University of Texas Health Science Center at Houston (US)
- University of Washington (US)
- Johns Hopkins University (US)
- Children's Health Queensland Hospital and Health Service (AU)
- Corresponding author
- Lalani, Seema R.
- Yang, Yaping
- ORCID
- Lalani, Seema R.
- Liu, Pengfei
- Rosenfeld, Jill A.
- Watkin, Levi B.
- Leduc, Magalie S.
- Ding, Yan
- Vetrini, Francesco
- Miyake, Christina Y.
- Shinawi, Marwan
- Gambin, Tomasz
- Eldomery, Mohammad K.
- Emrick, Lisa
- Schelley, Susan
- Koenig, Mary Kay
- Farach, Laura S.
- Coe, Bradley P.
- Azamian, Mahshid
- Jhangiani, Shalini N.
- Muzny, Donna M.
- Lotze, Timothy
- Wilfong, Angus
- Northrup, Hope
- Adesina, Adekunle
- Bacino, Carlos A.
- Scaglia, Fernando
- Bonnen, Penelope E.
- Duis, Jessica
- Maegawa, Gustavo H.B.
- Coman, David
- Inwood, Anita
- McGill, Jim
- Boerwinkle, Eric
- Graham, Brett
- Eng, Christine M.
- Hanchard, Neil A.
- Xia, Fan
- Orange, Jordan S.
- Gibbs, Richard A.
- Lupski, James R.
- Yang, Yaping
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-02
- Volume
- 98
- Issue
- 2
- Pages
- 347-357
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC4746334
- OpenAlex
- W2251814725
- Cited by
- 143
- References
- 33
- Citations by year
- 2026: 14 · 2025: 13 · 2024: 13 · 2023: 18 · 2022: 25 · 2021: 14 · 2020: 12 · 2019: 9 · 2018: 10 · 2017: 7 · 2016: 8
- FWCI
- 9.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Griffith Research Online (submittedVersion, other-oa)
- Funders
- Regeneron Pharmaceuticals
- Wellcome Trust
- National Institutes of Health (UL1TR000371)
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute (U54HG006542)
- National Institute of General Medical Sciences (T32GM007471)
- National Institute of Neurological Disorders and Stroke (R01NS083726)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Surgery › Muscle and Compartmental Disorders
- Keywords
- TANGO2, rhabdomyolysis, biallelic variants, hypoglycemia, hyperammonemia, cardiac tachyarrhythmias, endoplasmic reticulum stress, Golgi apparatus, exome sequencing, compound heterozygosity, Hispanic/Latino populations, European populations, consanguinity
- MeSH terms
- Alleles, Arrhythmias, Cardiac, Base Sequence, Child, Child, Preschool, Exons, Female, Golgi Apparatus, Hispanic or Latino, Homozygote, Humans, Infant, Male, Molecular Sequence Data, Pedigree, Rhabdomyolysis, Gene Deletion, Muscle Weakness, Arabs, White People, Exome, Endoplasmic Reticulum Stress
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