Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene
T. V. Kozhanova,
S. S. Zhilina,
T. I. Meshcheryakova,
E. G. Luk’yanova,
K. V. Osipova,
S. O. Ayvazyan,
A. G. Prityko,
N. N. Zavadenko https://doi.org/10.17749/2077-8333/epi.par.con.2021.050
Abstract
We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described in patients with epilepsy, hearing loss and mental retardation syndrome (MIM 616577). Paired parents were carriers of one heterozygous gene variant. Such mutations lead to the development of epileptic disorders in 3% of cases, and should be considered in patients not only as a possible cause of neurodegenerative diseases, but also leading to pathology with clinical manifestations mimicking mitochondrial disease.
About the Authors
T. V. Kozhanova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Tatyana V. Kozhanova, MD, PhD, Associate Professor, Senior Researcher, Genetic Group, Scientific Department, Laboratory Geneticist
RSCI SPIN-code: 9909-4273
38 Aviatorov Str., Moscow 119620
S. S. Zhilina
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Svetlana S. Zhilina, MD, PhD, Associate Professor, Leading Researcher, Genetic Group, Scientific Department, Geneticist
RSCI SPIN-code: 6153-7926
38 Aviatorov Str., Moscow 119620
T. I. Meshcheryakova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Tatyana I. Meshсheryakova, MD, PhD, Leading Researcher, Genetic Group, Scientific Department, Geneticist
RSCI SPIN-code: 9429-0318
38 Aviatorov Str., Moscow 119620
E. G. Luk’yanova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Ekaterina G. Luk’yanova, Neurologist
38 Aviatorov Str., Moscow 119620
K. V. Osipova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Karina V. Osipova, MD, PhD, Head of the Psychoneurological Department
38 Aviatorov Str., Moscow 119620
S. O. Ayvazyan
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Sergey O. Ayvazyan, MD, PhD, Scientific Supervisor, Group of Resistant Forms of Epilepsy, Scientific Department
Scopus Author ID: 35773251400;
RSCI SPIN-code: 9490-9719
38 Aviatorov Str., Moscow 119620
A. G. Prityko
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Andrey G. Prityko, Dr. Med. Sc., Professor, Academician of Russian Academy of Natural Sciences, Director
RSCI SPIN-code: 5045-6357.
38 Aviatorov Str., Moscow 119620
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Nikolay N. Zavadenko, Dr. Med. Sc., Head of Badalyan Chair of Neurology, Neurosurgery and Medical Genetics, Department of Pediatrics
RSCI SPIN-code: 5944-7629
1 Ostrovityanova Str., Moscow 117997
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Meshcheryakova T.I., Luk’yanova E.G., Osipova K.V., Ayvazyan S.O., Prityko A.G., Zavadenko N.N. Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene. Epilepsy and paroxysmal conditions. 2021;13(1):44-50. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2021.050
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