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Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene

https://doi.org/10.17749/2077-8333/epi.par.con.2021.050

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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

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

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

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

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

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

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

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

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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For citation:


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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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)