A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report
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...
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| Language: | English |
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Discover STM Publishing Ltd
2023-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=163029 |
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| author | Zahra Alkhawaja Salwa M. Alkhalifi Sahar Tulbah Zuhair Al-hassnan |
| author_facet | Zahra Alkhawaja Salwa M. Alkhalifi Sahar Tulbah Zuhair Al-hassnan |
| author_sort | Zahra Alkhawaja |
| collection | DOAJ |
| description | 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. [JBCGenetics 2023; 6(2.000): 138-143] |
| format | Article |
| id | doaj-art-70eced40b96d46528c3750f3941cd2a8 |
| institution | OA Journals |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2023-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-70eced40b96d46528c3750f3941cd2a82025-08-20T02:10:08ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882023-02-016213814310.24911/JBCGenetics/183-1690703389163029A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case reportZahra Alkhawaja0Salwa M. Alkhalifi1Sahar Tulbah2Zuhair Al-hassnan3Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia Department of Pediatrics, Maternity & Children's Hospital Dammam, Dammam, Saudi Arabia Department Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia Department Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.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. [JBCGenetics 2023; 6(2.000): 138-143]https://www.jbcgenetics.com/?mno=163029tango2 transport and golgi organization 2 homolog wes whole exome sequencing vt ventricular tachycardia pvcs premature ventricular contractions |
| spellingShingle | 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 Journal of Biochemical and Clinical Genetics tango2 transport and golgi organization 2 homolog wes whole exome sequencing vt ventricular tachycardia pvcs premature ventricular contractions |
| title | A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report |
| title_full | A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report |
| title_fullStr | A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report |
| title_full_unstemmed | A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report |
| title_short | A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report |
| title_sort | novel mutation in tango2 gene associated with recurrent muscle weakness with rhabdomyolysis metabolic encephalopathy and cardiac arrhythmia a case report |
| topic | tango2 transport and golgi organization 2 homolog wes whole exome sequencing vt ventricular tachycardia pvcs premature ventricular contractions |
| url | https://www.jbcgenetics.com/?mno=163029 |
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