2019
DOI: 10.1002/jimd.12149
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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Abstract: Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. The disease is not well understood, in part as the cellular function and subcellular localization of the TANGO2 protein remain unknown. Furthermore, the clinical syndrome with its heterogeneity of symptoms, signs, and laboratory findings is still being defined. Here… Show more

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Cited by 39 publications
(81 citation statements)
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“…Several studies attempted to show such a function but results have been enigmatic (Table 1). Consistent with one study that showed no redistribution of mannosidase II to the ER in individuals with either a deletion encompassing exons 4-6 or harboring a p.His94Thrfs*3 frameshift variant, 6 we also did not see a change in localization of this Golgi enzyme nor in the Golgi matrix marker p115 in fibroblasts from the three individuals studied here, expanding this result to three other TANGO2 genotypes. It remains to be seen if these findings also hold true for other TANGO2 variants including missense variants.…”
Section: Discussionsupporting
confidence: 92%
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“…Several studies attempted to show such a function but results have been enigmatic (Table 1). Consistent with one study that showed no redistribution of mannosidase II to the ER in individuals with either a deletion encompassing exons 4-6 or harboring a p.His94Thrfs*3 frameshift variant, 6 we also did not see a change in localization of this Golgi enzyme nor in the Golgi matrix marker p115 in fibroblasts from the three individuals studied here, expanding this result to three other TANGO2 genotypes. It remains to be seen if these findings also hold true for other TANGO2 variants including missense variants.…”
Section: Discussionsupporting
confidence: 92%
“…On the other hand, a study that examined three TANGO2 isoforms including the canonical one did not find evidence for either Golgi or mitochondrial localization, concluding that the protein was cytosolic. 6 It is noteworthy that the former study did in fact report an Mingirulli et al 7…”
Section: Discussionmentioning
confidence: 92%
“…RNA expression of TANGO2 in myoblasts from two patients with the homozygous deletion (P2, P11) and one patient with the homozygous mutation c.262C>T (P18) was reduced by more than 99% and 87% relative to control cells, respectively (Figure 2A). We failed to detect by Western Blotting protein expression of TANGO2 in control and patient myoblasts using the antibody Abcam ref 87576 2,4 at various dilutions and buffers (data not shown). Using the ProteinTech antibody Ref 27846-1-AP, we observed a band at 35Kda in control cells, as expected.…”
Section: Genetic Studiesmentioning
confidence: 96%
“…Neurological impairment can arise before and be aggravated by MC, and varies from normal condition to severe encephalopathy. 4,5 The incidence of TANGO2 disease is unknown, although a large number of patients have recently been described over a short time, with two predominant mutations that suggest a founder effect. 2,5 At the cellular level, TANGO2 protein presumably regulates the organization of the Golgi apparatus and the endoplasmic reticulum (ER), but its exact function is unknown.…”
Section: Introductionmentioning
confidence: 99%
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