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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Clinical phenotype associated with TANGO2 gene mutation.

C Hoebeke1, A Cano1, P De Lonlay2

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|December 21, 2020
PubMed
Summary
This summary is machine-generated.

Bi-allelic mutations in the Transport and Golgi Organization 2 (TANGO2) gene cause a severe condition characterized by encephalopathy and rhabdomyolysis. Early diagnosis is challenging, necessitating consideration of TANGO2 gene mutations in patients with developmental disorders and rhabdomyolysis.

Keywords:
Cardiac rhythm disordersEncephalopathyHypothyroidismRhabdomyolysisTANGO2

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Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Transport and Golgi Organization 2 (TANGO2) gene mutations are associated with a rare genetic disorder.
  • The condition presents with encephalopathy, rhabdomyolysis, cardiac arrhythmias, and neurological regression.

Observation:

  • This study details the clinical phenotype of seven children with bi-allelic TANGO2 mutations.
  • Phenotypic variability was observed, including differences in disability severity.
  • Hypothyroidism is a frequently reported comorbidity.

Findings:

  • TANGO2 mutations lead to a serious illness with reduced life expectancy due to unpredictable cardiac events, especially during rhabdomyolysis.
  • Rhabdomyolysis episodes are often triggered by infections or physical exertion.
  • Early diagnosis is hindered by a lack of specific biochemical markers or early identifying symptoms.

Implications:

  • Clinicians should consider TANGO2 gene mutations in patients presenting with rhabdomyolysis and early developmental disorders.
  • Current management strategies for TANGO2-related disorders are purely symptomatic.
  • Further research is needed to identify specific biomarkers for earlier diagnosis and targeted therapies.