E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
05 / 03 / 2024

 


A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report

Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan.


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.

Key words: TANGO2 Transport And Golgi Organization 2 Homolog WES Whole Exome sequencing VT Ventricular tachycardia PVCs Premature ventricular contractions


 
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How to Cite this Article
Pubmed Style

Alkhawaja Z, Alkhalifi SM, Tulbah S, Al-hassnan Z. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBCGenetics. 2023; 6(2): 138-143. doi:10.24911/JBCGenetics/183-1690703389


Web Style

Alkhawaja Z, Alkhalifi SM, Tulbah S, Al-hassnan Z. 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/?mno=163029 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1690703389


AMA (American Medical Association) Style

Alkhawaja Z, Alkhalifi SM, Tulbah S, Al-hassnan Z. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBCGenetics. 2023; 6(2): 138-143. doi:10.24911/JBCGenetics/183-1690703389



Vancouver/ICMJE Style

Alkhawaja Z, Alkhalifi SM, Tulbah S, Al-hassnan Z. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBCGenetics. (2023), [cited March 13, 2024]; 6(2): 138-143. doi:10.24911/JBCGenetics/183-1690703389



Harvard Style

Alkhawaja, Z., Alkhalifi, . S. M., Tulbah, . S. & Al-hassnan, . Z. (2023) A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. JBCGenetics, 6 (2), 138-143. doi:10.24911/JBCGenetics/183-1690703389



Turabian Style

Alkhawaja, Zahra, Salwa M. Alkhalifi, Sahar Tulbah, and Zuhair Al-hassnan. 2023. A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. Journal of Biochemical and Clinical Genetics, 6 (2), 138-143. doi:10.24911/JBCGenetics/183-1690703389



Chicago Style

Alkhawaja, Zahra, Salwa M. Alkhalifi, Sahar Tulbah, and Zuhair Al-hassnan. "A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report." Journal of Biochemical and Clinical Genetics 6 (2023), 138-143. doi:10.24911/JBCGenetics/183-1690703389



MLA (The Modern Language Association) Style

Alkhawaja, Zahra, Salwa M. Alkhalifi, Sahar Tulbah, and Zuhair Al-hassnan. "A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report." Journal of Biochemical and Clinical Genetics 6.2 (2023), 138-143. Print. doi:10.24911/JBCGenetics/183-1690703389



APA (American Psychological Association) Style

Alkhawaja, Z., Alkhalifi, . S. M., Tulbah, . S. & Al-hassnan, . Z. (2023) A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report. Journal of Biochemical and Clinical Genetics, 6 (2), 138-143. doi:10.24911/JBCGenetics/183-1690703389





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