Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

doi:10.1016/j.ajhg.2015.12.009

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Article

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

American journal of human genetics - 4 Feb 2016

Kremer Laura S, Distelmaier Felix, Alhaddad Bader, Hempel Maja, Iuso Arcangela, Küpper Clemens, Mühlhausen Chris, Kovacs-Nagy Reka, Satanovskij Robin, Graf Elisabeth, Berutti Riccardo, Eckstein Gertrud, Durbin Richard, Sauer Sascha, Hoffmann Georg F, Strom Tim M, Santer René, Meitinger Thomas, Klopstock Thomas, Prokisch Holger, Haack Tobias B

Abstract excerpt

Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrelated individuals with infancy-onset episodic metabolic crises characterized by encephalopathy, hypoglycemia, rhabdomyolysis, arrhythmias, and laboratory findings suggestive of a defect in...

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Identifiers

PMID: 26805782
DOI: 10.1016/j.ajhg.2015.12.009
PMCID: PMC4746337

Genes

TANGO2

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