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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy  Laura S. Kremer, Felix Distelmaier,

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Presentation on theme: "Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy  Laura S. Kremer, Felix Distelmaier,"— Presentation transcript:

1 Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy  Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs- Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack  The American Journal of Human Genetics  Volume 98, Issue 2, Pages (February 2016) DOI: /j.ajhg Copyright © 2016 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of Investigated Families and Structure of TANGO2
(A) Pedigrees of three families with mutations in TANGO2. Mutation status of affected (closed symbols) and healthy (open symbols) family members shown. n.a., not available. (B) Gene structure of TANGO2 with known protein domains of the gene product and localization of the identified mutations. Intronic regions are not drawn to scale. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Neuroimaging Findings in TANGO2 Mutant Individuals
(A–D) Brain MRIs of individuals F2:II.2 (A–C) and F3:II.1 (D). Although the individual MRI findings are nonspecific, the rather uniform pictures with widening of the ventricles should be noted when placing them side by side. (A) Brain MRI (T1-weighted image, axial view) at the age of 2 11/12 years, demonstrating mild widening of the ventricles suggestive of a generalized brain atrophy. (B) Brain MRI (T2-weighted image, axial view) at the age of 2 years, demonstrating mild widening of the ventricles and the bifrontal cerebrospinal fluid spaces. (C) Brain MRI (T2-weighted image, axial view) at the age of 6 years, showing no relevant changes compared to the earlier investigation. (D) Diffusion-weighted imaging (axial view) at the age of 6 years during acute metabolic crisis and recurrent seizures showing extensive left-hemispheric cortical cytotoxic edema, possibly caused by prolonged focal status epilepticus. (E) Brain MRI (T2-weighted image, axial view) at the age of 22 years, demonstrating widening of the ventricles as a sign of generalized brain atrophy. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Investigation of Palmitate-Dependent Mitochondrial Respiration Analysis of palmitate-dependent oxygen consumption rates (OCR) in fibroblast cell lines revealed impaired respiration in TANGO2-mutant cells in comparison to controls. A MCAD (medium-chain acyl-Coenzyme A dehydrogenase)-deficient cell line was used as a positive control. The experiment was performed several times with very similar results. The data are shown from one experiment performed with more than 12 replicates for each cell line grown and treated in parallel. Error bars indicate 1 SD from the mean. ∗p < 0.001; two-tailed unpaired t test. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

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