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

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

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 des...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:Russian
Published: IRBIS LLC 2021-04-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
epilepsy
microcephaly
hearing loss
mental retardation
whole exome sequencing
Online Access:https://www.epilepsia.su/jour/article/view/655
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Summary: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.
ISSN:2077-8333
2311-4088

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