Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
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 (Drosoph...
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| Published in | American journal of human genetics Vol. 98; no. 2; pp. 347 - 357 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
04.02.2016
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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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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| AbstractList | 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.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. 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. 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. 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. |
| Author | Azamian, Mahshid Muzny, Donna M. Chiang, Theodore Yang, Yaping Scaglia, Fernando Wilnai, Yael Miyake, Christina Y. Wilfong, Angus Jhangiani, Shalini N. Clark, Gary Lupski, James R. Rosenfeld, Jill A. Zhu, Wenmiao Graham, Brett Eldomery, Mohammad K. Watkin, Levi B. Hernandez, Patricia Beaudet, Art Shinawi, Marwan Memon, Nada McGill, Jim Zapata, Gladys Orange, Jordan S. Maegawa, Gustavo H.B. Ding, Yan Bacino, Carlos A. Farach, Laura S. Boerwinkle, Eric Emrick, Lisa Northrup, Hope Crosson, Jane Lalani, Seema R. Xia, Fan Gibbs, Richard A. Coe, Bradley P. Akdemir, Zeynep Hande Coban Liu, Pengfei Bonnen, Penelope E. Duis, Jessica Eng, Christine M. Pan, Shujuan Coman, David Hanchard, Neil A. Lotze, Timothy Inwood, Anita Koenig, Mary Kay Vetrini, Francesco Leduc, Magalie S. Schelley, Susan Gambin, Tomasz Adesina, Adekunle |
| AuthorAffiliation | 15 Division of Pediatric Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA 10 Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA 17 Department of Pediatrics, Division of Genetics & Metabolism, University of Florida, Gainsville, FL 32610, USA 11 Division of Cardiology, DCH Regional Medical Center, Tuscaloosa, AL 35401, USA 14 Department of Pathology, Texas Children’s Hospital, Houston, TX 77030, USA 4 Texas Children’s Hospital Center for Human Immuno-Biology, Houston, TX 77030, USA 18 Department of Metabolic Medicine, Lady Cilento Children’s Hospital, South Brisbane, QLD 4101, Australia 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 13 Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA 19 Human Genetics Center, School of Public Health, University of Houston Health Science Center, Housto |
| AuthorAffiliation_xml | – name: 16 Mckusick-Nathans Inst. of Genetic Medicine & Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA – name: 2 Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA – name: 9 Division of Medical Genetics, Stanford School of Medicine, Stanford, CA 94304, USA – name: 14 Department of Pathology, Texas Children’s Hospital, Houston, TX 77030, USA – name: 13 Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA – name: 7 Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – name: 4 Texas Children’s Hospital Center for Human Immuno-Biology, Houston, TX 77030, USA – name: 6 Department of Pediatric Cardiology, Texas Children’s Hospital, Houston, TX 77030, USA – name: 3 Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA – name: 5 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – name: 19 Human Genetics Center, School of Public Health, University of Houston Health Science Center, Houston, TX 77030, USA – name: 15 Division of Pediatric Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA – name: 18 Department of Metabolic Medicine, Lady Cilento Children’s Hospital, South Brisbane, QLD 4101, Australia – name: 20 Texas Children’s Hospital, Houston, TX 77030, USA – name: 12 Division of Medical Genetics, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA – name: 10 Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA – name: 11 Division of Cardiology, DCH Regional Medical Center, Tuscaloosa, AL 35401, USA – name: 17 Department of Pediatrics, Division of Genetics & Metabolism, University of Florida, Gainsville, FL 32610, USA – name: 8 Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26805781$$D View this record in MEDLINE/PubMed |
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| ContentType | Journal Article |
| Copyright | 2016 The American Society of Human Genetics Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Feb 4, 2016 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics |
| Copyright_xml | – notice: 2016 The American Society of Human Genetics – notice: Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press Feb 4, 2016 – notice: 2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics |
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| Snippet | The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and... |
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| SubjectTerms | Alleles Arabs - genetics Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - genetics Base Sequence Child Child, Preschool Endoplasmic Reticulum Stress - genetics Exome Exons Female Gene Deletion Genetics Golgi Apparatus - genetics Golgi Apparatus - metabolism Hispanic or Latino - genetics Homozygote Humans Infant Male Molecular Sequence Data Muscle Weakness - diagnosis Muscle Weakness - genetics Muscular system Musculoskeletal diseases Mutation Pedigree Rhabdomyolysis - diagnosis Rhabdomyolysis - genetics White People - genetics |
| Title | Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations |
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