NDLI: Neonatal encephalocardiomyopathy caused by mutations in VARS2

Content Provider	Springer Nature Link
Author	Baertling, Fabian Alhaddad, Bader Seibt, Annette Budaeus, Sonja Meitinger, Thomas Strom, Tim M. Mayatepek, Ertan Schaper, Jörg Prokisch, Holger Haack, Tobias B. Distelmaier, Felix
Copyright Year	2016
Abstract	VARS2 encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in VARS2 have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to identify compound heterozygous pathogenic VARS2 variants in a boy presenting with severe lactic acidosis, hypertrophic cardiomyopathy, epilepsy, and abnormalities on brain imaging including hypoplasia of corpus callosum and cerebellum as well as a massive lactate peak on MR-spectroscopy. Studies in patient-derived fibroblasts confirmed the functional relevance of the identified VARS2 variants. Our report expands the phenotypic spectrum associated with this rare mitochondrial defect, in that VARS2 deficiency may also cause severe neonatal presentations with cardiac involvement and structural brain abnormalities.
Starting Page	267
Ending Page	270
Page Count	4
File Format	PDF
ISSN	08857490
Journal	Metabolic Brain Disease
Volume Number	32
Issue Number	1
e-ISSN	15737365
Language	English
Publisher	Springer US
Publisher Date	2016-08-08
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	VARS2 OXPHOS Mitochondrial disease Cardiomyopathy Aminoacyl tRNA synthtetase Neurosciences Neurology Metabolic Diseases Biochemistry Oncology
Content Type	Text
Resource Type	Article
Subject	Biochemistry Neurology (clinical) Cellular and Molecular Neuroscience

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