Case Report
Volume: 6 | Issue: 2 | Published: Mar 05, 2024 | Pages: 138 - 143 | DOI: 10.24911/JBCGenetics/183-1690703389
A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
Authors: Zahra Alkhawaja , Salwa M. Alkhalifi , Sahar Tulbah , Zuhair Al-hassnan
Article Info
Authors
Zahra Alkhawaja
Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia
Salwa M. Alkhalifi
Department of Pediatrics, Maternity & Children's Hospital Dammam, Dammam, Saudi Arabia
Sahar Tulbah
Department Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
Zuhair Al-hassnan
Department Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Publication History
Received: August 29, 2023
Revised: November 02, 2023
Accepted: December 17, 2023
Published: March 05, 2024
Abstract
Background TANGO2 depletion was found to cause clinically recognizable multi-organ involvement disorder in pediatrics with episodic muscle weakness recurrent rhabdomyolysis, intellectual disability, metabolic encephalomyopathic crises and cardiac arrhythmia. TANGO2 deficiency is also referred to as "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" (MECRCN) in OMIM. * 616830 Case presentation We report a case of a 4-year-old Saudi boy from a consanguineous Saudi family with two uncles deceased at 3 year of age with recurrent muscle weakness and hyperammonemia of unknown cause .Patient in last attack progressed to severe metabolic encephalomyopathic crisis that required assisted ventilation for 4 months, complicated with life threatening cardiac tachyarrhythmia. Laboratory findings of hypoglycemia, mild hyperammonemia , severely elevated plasma Creatine Kinase, myoglobinuria , lactic acidosis and increased TSH concentration indicating hypothyroidism have been documented. The clinical profile was highly suggestive of TANGO2-realted disorder. Direct DNA sequence analysis of the entire coding regions of TANGO2 gene identified a novel homozygous deletion for three nucleotides in exon 2 (c.11_13delTCT) resulting in amino acid deletion (phenylalanine) at position 5. Conclusion This report illustrates the importance of collating clinical data and keeping a high index of suspicion in order to reach to the diagnosis.
Keywords: TANGO2 Transport And Golgi Organization 2 Homolog WES Whole Exome sequencing VT Ventricular tachycardia PVCs Premature ventricular contractions
Pubmed Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBC Genetics. 2024; 05 (March 2024): 138-143. doi:10.24911/JBCGenetics/183-1690703389
Web Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. https://www.jbcgenetics.com/index.php/articles/2095 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1690703389
AMA (American Medical Association) Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBC Genetics. 2024; 05 (March 2024): 138-143. doi:10.24911/JBCGenetics/183-1690703389
Vancouver/ICMJE Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBC Genetics. (2024), [cited April 27, 2025]; 05 (March 2024): 138-143. doi:10.24911/JBCGenetics/183-1690703389
Harvard Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan (2024) A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBC Genetics, 05 (March 2024): 138-143. doi:10.24911/JBCGenetics/183-1690703389
Chicago Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. "A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report." 05 (2024), 138-143. doi:10.24911/JBCGenetics/183-1690703389
MLA (The Modern Language Association) Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan. "A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report." 05.March 2024 (2024), 138-143. Print. doi:10.24911/JBCGenetics/183-1690703389
APA (American Psychological Association) Style
Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan (2024) A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. , 05 (March 2024), 138-143. doi:10.24911/JBCGenetics/183-1690703389