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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Artikel i vetenskaplig tidskrift
Författare Elizabeth Jennions
Carola Oldfors Hedberg
Anna-Karin Berglund
Gittan Kollberg
Carl-Johan Törnhage
Erik A Eklund
Anders Oldfors
Patrick Verloo
Arnaud V Vanlander
Linda De Meirleir
Sara Seneca
Fredrik H Sterky
Niklas Darin
Publicerad i Journal of inherited metabolic disease
Volym 42
Nummer/häfte 5
Sidor 898-908
ISSN 1573-2665
Publiceringsår 2019
Publicerad vid Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Institutionen för biomedicin, avdelningen för patologi
Wallenberg Centre for Molecular and Translational Medicine
Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 898-908
Språk en
Länkar dx.doi.org/10.1002/jimd.12149
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord copy‐number variation, developmental delay, FAD, rare disease, succinate dehydrogenase
Ämneskategorier Pediatrik

Sammanfattning

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, we describe 11 new cases of TANGO2-related disease, confirming and further expanding the previously described clinical phenotype. Patients were homozygous or compound heterozygous for previously described exonic deletions or new frameshift, splice site, and missense mutations. All patients showed developmental delay with ataxia, dysarthria, intellectual disability, or signs of spastic diplegia. Of importance, we identify two subjects (aged 12 and 17 years) who have never experienced any overt episode of the catabolism-induced metabolic crises typical for the disease. Mitochondrial complex II activity was mildly reduced in patients investigated in association with crises but normal in other patients. In one deceased patient, post-mortem autopsy revealed heterotopic neurons in the cerebral white matter, indicating a possible role for TANGO2 in neuronal migration. Furthermore, we have addressed the subcellular localization of several alternative isoforms of TANGO2, none of which were mitochondrial but instead appeared to have a primarily cytoplasmic localization. Previously described aberrations in Golgi morphology were not observed in cultured skin fibroblasts.

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