Journal Article

DZNE-2020-04710

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer, L. S. ; Distelmaier, F. ; Alhaddad, B. ; Hempel, M. ; Iuso, A. ; Küpper, C.DZNE* ; 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. (Corresponding author)DZNE* ; Klopstock, T.DZNE* ; Prokisch, H. ; Haack, T. B.

2016
Elsevier New York, NY

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Please use a persistent id in citations: doi:10.1016/j.ajhg.2015.12.009

Abstract: 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 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.

Keyword(s): Alleles (MeSH) ; Arrhythmias, Cardiac: diagnosis (MeSH) ; Arrhythmias, Cardiac: genetics (MeSH) ; Cardiomyopathies: diagnosis (MeSH) ; Cardiomyopathies: genetics (MeSH) ; Child, Preschool (MeSH) ; Exome (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Infant (MeSH) ; Male (MeSH) ; Mitochondria: genetics (MeSH) ; Mitochondria: metabolism (MeSH) ; Mitochondrial Diseases: diagnosis (MeSH) ; Mitochondrial Diseases: genetics (MeSH) ; Mutation (MeSH) ; Pedigree (MeSH)

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Contributing Institute(s):

1. Ext LMU Klinik (Ext LMU Klinik)
2. Clinical Neurodegeneration (AG Levin)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2016

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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