The phenotypic manifestations of mitochondrial diseases caused by mutations in SCO2 gene
Abstract
Mitochondrial diseases are characterized by considerable diversity of clinical presentations and genetic heterogeneity and mostly manifest in neonatal period or in early childhood. Clinical picture of these patients reveales a variety of neurological and somatic symptoms. Mutations in mitochondrial DNA (mtDNA) and in nuclear genes that control oxidative phosphorylation processes can cause mitochondrial diseases. The article provides the literature analysis and description of a 5 new patients with mutations in the SCO2 gene identified by a target sequencing of 62 nuclear mitochondrial genes and by retrospective analysis of 202 patients with a clinical diagnosis of mitochondrial myopathy / Leigh syndrome. It has been shown that SCO2 gene mutations present the second frequent cause of infantile mitochondrial encephalomyopathies after SURF1 gene mutations.
About the Authors
Yu. S. Itkis
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. O. Bychkov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. V. Mikhailova
Russian Child Clinical Hospital
Russian Federation
Russian Federation
E. S. Ilina
Russian Child Clinical Hospital
Russian Federation
Russian Federation
V. V. Nikitin
Child Clinical City Hospital, named Z.A. Bashlyaeva
Russian Federation
Russian Federation
L. M. Kolpakchi
Russian Child Clinical Hospital
Russian Federation
Russian Federation
I. D. Fedonyuk
Russian Child Clinical Hospital
Russian Federation
Russian Federation
E. I. Zotina
Regional Child Clinical Hospital №1
Russian Federation
Russian Federation
N. A. Pichkur
The National Children’s Specialized Hospital «OKHMATDET»
Russian Federation
Russian Federation
P. G. Tsygankova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Itkis Yu.S., Bychkov I.O., Mikhailova S.V., Ilina E.S., Nikitin V.V., Kolpakchi L.M., Fedonyuk I.D., Zotina E.I., Pichkur N.A., Tsygankova P.G., Zakharova E.Yu. The phenotypic manifestations of mitochondrial diseases caused by mutations in SCO2 gene. Medical Genetics. 2017;16(2):30-36. (In Russ.)
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