Cited by 151Genomics and Rare DiseasesMetabolism and Genetic DisordersMuscle and Compartmental Disorders

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

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Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping·2016·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2015.12.008PMC PMC4746334

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Abstract

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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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)
DOI: 10.1016/j.ajhg.2015.12.008
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 185 d)
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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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

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