Clinical phenotype associated with variants in TANGO2: A case study.

Area of Science:

• Genetics and Molecular Biology
• Neurology
• Cardiology

Background:

• Transport and Golgi organization 2 (TANGO2) disease is a rare, severe inherited disorder with diverse phenotypes.
• It is characterized by metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism.
• Biallelic mutations in the TANGO2 gene are associated with encephalopathy, rhabdomyolysis, cardiac rhythm disorders, and neurological regression.

Observation:

• This report details the clinical features of a 10-year-old girl with TANGO2 gene mutations.
• A unique aspect of this case was the absence of elevated creatine kinase during acute crises of cardiac and multi-organ failure.
• The patient also lacked prior mental retardation, which is often associated with aberrant heart rhythms in TANGO2 disease.

Findings:

• The study identifies a distinct clinical presentation of TANGO2 disease.
• The absence of elevated creatine kinase and prior cognitive impairment challenges typical diagnostic markers.
• This case underscores the variability in TANGO2-related phenotypes, particularly concerning cardiac and neurological manifestations.

Implications:

• Clinicians should consider TANGO2 gene mutations in patients presenting with rhabdomyolysis and early developmental disorders, even without elevated creatine kinase.
• This case expands the understanding of TANGO2 disease phenotypes, suggesting a broader spectrum than previously recognized.
• Further research is needed to elucidate the mechanisms underlying these atypical presentations and to develop targeted therapies for TANGO2 disease.