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

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

in: AM J HUM GENET, Jahrgang 98, 04.02.2016, S. 358-362.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kremer, LS, Distelmaier, F, Alhaddad, B, Hempel, M, Iuso, A, Küpper, C, Mühlhausen, C, Kovacs-Nagy, R, Satanovskij, R, Graf, E, Berutti, R, Eckstein, G, Durbin, R, Sauer, S, Hoffmann, GF, Strom, TM, Santer, R, Meitinger, T, Klopstock, T, Prokisch, H & Haack, TB 2016, 'Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy', AM J HUM GENET, Jg. 98, S. 358-362. https://doi.org/10.1016/j.ajhg.2015.12.009

APA

Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., ... Haack, T. B. (2016). Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. AM J HUM GENET, 98, 358-362. https://doi.org/10.1016/j.ajhg.2015.12.009

Vancouver

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C et al. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. AM J HUM GENET. 2016 Feb 4;98:358-362. https://doi.org/10.1016/j.ajhg.2015.12.009

Bibtex

@article{f1ca8997759845088e8c619a9bd8dce3,
title = "Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy",
abstract = "Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different biallelic 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 mitochondrial fatty acid oxidation. Over the course of the disease, all individuals developed global brain atrophy with cognitive impairment and pyramidal signs. TANGO2 (transport and Golgi organization 2) encodes a protein with a putative function in redistribution of Golgi membranes into the endoplasmic reticulum in Drosophila and a mitochondrial localization has been confirmed in mice. Investigation of palmitate-dependent respiration in mutant fibroblasts showed evidence of a functional defect in mitochondrial β-oxidation. Our results establish TANGO2 deficiency as a clinically recognizable cause of pediatric disease with multi-organ involvement.",
author = "Kremer, {Laura S} and Felix Distelmaier and Bader Alhaddad and Maja Hempel and Arcangela Iuso and Clemens K{\"u}pper and Chris M{\"u}hlhausen and Reka Kovacs-Nagy and Robin Satanovskij and Elisabeth Graf and Riccardo Berutti and Gertrud Eckstein and Richard Durbin and Sascha Sauer and Hoffmann, {Georg F} and Strom, {Tim M} and Ren{\'e} Santer and Thomas Meitinger and Thomas Klopstock and Holger Prokisch and Haack, {Tobias B}",
note = "Copyright {\textcopyright} 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2016",
month = feb,
day = "4",
doi = "10.1016/j.ajhg.2015.12.009",
language = "English",
volume = "98",
pages = "358--362",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",

}

RIS

TY - JOUR

T1 - Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

AU - Kremer, Laura S

AU - Distelmaier, Felix

AU - Alhaddad, Bader

AU - Hempel, Maja

AU - Iuso, Arcangela

AU - Küpper, Clemens

AU - Mühlhausen, Chris

AU - Kovacs-Nagy, Reka

AU - Satanovskij, Robin

AU - Graf, Elisabeth

AU - Berutti, Riccardo

AU - Eckstein, Gertrud

AU - Durbin, Richard

AU - Sauer, Sascha

AU - Hoffmann, Georg F

AU - Strom, Tim M

AU - Santer, René

AU - Meitinger, Thomas

AU - Klopstock, Thomas

AU - Prokisch, Holger

AU - Haack, Tobias B

N1 - Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2016/2/4

Y1 - 2016/2/4

N2 - Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different biallelic 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 mitochondrial fatty acid oxidation. Over the course of the disease, all individuals developed global brain atrophy with cognitive impairment and pyramidal signs. TANGO2 (transport and Golgi organization 2) encodes a protein with a putative function in redistribution of Golgi membranes into the endoplasmic reticulum in Drosophila and a mitochondrial localization has been confirmed in mice. Investigation of palmitate-dependent respiration in mutant fibroblasts showed evidence of a functional defect in mitochondrial β-oxidation. Our results establish TANGO2 deficiency as a clinically recognizable cause of pediatric disease with multi-organ involvement.

AB - Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different biallelic 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 mitochondrial fatty acid oxidation. Over the course of the disease, all individuals developed global brain atrophy with cognitive impairment and pyramidal signs. TANGO2 (transport and Golgi organization 2) encodes a protein with a putative function in redistribution of Golgi membranes into the endoplasmic reticulum in Drosophila and a mitochondrial localization has been confirmed in mice. Investigation of palmitate-dependent respiration in mutant fibroblasts showed evidence of a functional defect in mitochondrial β-oxidation. Our results establish TANGO2 deficiency as a clinically recognizable cause of pediatric disease with multi-organ involvement.

U2 - 10.1016/j.ajhg.2015.12.009

DO - 10.1016/j.ajhg.2015.12.009

M3 - SCORING: Journal article

C2 - 26805782

VL - 98

SP - 358

EP - 362

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

ER -