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The contribution of extended neonatal screening to the establishment of mitochondrial DNA depletion syndrome-5
https://doi.org/10.25557/2073-7998.2025.10.100-101
Abstract
There are reported clinical and molecular characteristics of mitochondrial DNA depletion syndrome-5 in a child from the Republic of Sakha (Yakutia). The patient had been included in the risk group of expanded newborn screening before the diagnosis was established. The whole-genome sequencing revealed the variant c.148C>T in the homozygous state, which leads to termination of protein synthesis p.Gln50* in the SUCLA2 gene.
Keywords
Supporting agencies: The study was supported by the state assignment of the Ministry of Science and Higher Education of the Russian Federation for the project «Genomics of the Arctic: Diagnostics, Prevention and Treatment» (FSRG-2024-0001).
About the Authors
D. B. Kochkina
North-Eastern Federal University ; Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
4, Sergelyakhskoe shosse, Yakutsk, 677010
A. A. Sivtsev
North-Eastern Federal University ; Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
4, Sergelyakhskoe shosse, Yakutsk, 677010
N. R. Everstova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
V. M. Sofronova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
A. N. Luginova
North-Eastern Federal University ; Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
4, Sergelyakhskoe shosse, Yakutsk, 677010
I. A. Nikolaeva
Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
4, Sergelyakhskoe shosse, Yakutsk, 677010
R. N. Ivanova
North-Eastern Federal University ; Republican Hospital No. 1-National Center of Medicine No. 1
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
4, Sergelyakhskoe shosse, Yakutsk, 677010
E. E. Gurinova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
A. L. Sukhomyasovа
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
N. R. Maximova
North-Eastern Federal University
Russian Federation
Russian Federation
58, Belinskogo st., Yakutsk, 677000
References
1. Almudhry M., Saini A.G., Al-Omari M.A., et al. Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series. Front Neurol. 2023; 14: 1265115. doi: 10.3389/fneur.2023.1265115.
Review
For citations:
Kochkina D.B., Sivtsev A.A., Everstova N.R., Sofronova V.M., Luginova A.N., Nikolaeva I.A., Ivanova R.N., Gurinova E.E., Sukhomyasovа A.L., Maximova N.R. The contribution of extended neonatal screening to the establishment of mitochondrial DNA depletion syndrome-5. Medical Genetics. 2025;24(10):100-101. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.100-101
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