Rare variants of mitochondrial DNA in a child with encephalomyopathy
https://doi.org/10.21508/1027-4065-2016-61-5-42-46
Abstract
The paper considers a clinical case of a child with suspected mitochondrial encephalomyopathy: cyclic vomiting, evident fatigue, muscle weakness, headache, and difficulties in learning school material. The similar symptoms are noted in an older sibling; the mother suffers from type 1 diabetes mellitus. The entire mitochondrial genome was sequenced in the proband. Despite the fact that significantly pathogenetic variants have not been identified, there are a number of individual mitochondrial DNA characteristics that may be of clinical significance. Of particular interest are two variants: m.T8477C and C12562G, which have a sufficiently high pathogenic potential. To establish their role requires further investigations of mitochondrial DNA in the mother and sibling.
Keywords
About the Authors
A. S. Voronkova
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation
Russian Federation
N. A. Litvinova
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation
Russian Federation
E. A. Nikolaeva
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation
Russian Federation
V. S. Sukhorukov
Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Voronkova A.S., Litvinova N.A., Nikolaeva E.A., Sukhorukov V.S. Rare variants of mitochondrial DNA in a child with encephalomyopathy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2016;61(5):42-46. (In Russ.) https://doi.org/10.21508/1027-4065-2016-61-5-42-46
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