Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

Atemin, S.; Todorov, T.; Tourtourikov, I.; Mitev, V.; Todorova, A.

doi:10.2478/amb-2022-0020

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Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

Acta Medica Bulgarica

Volume 49 (2022): Issue 2 (June 2022)

By: S. Atemin, T. Todorov, I. Tourtourikov, V. Mitev and A. Todorova

Open Access

|Jul 2022

Abstract

NARS1-related neurodevelopmental disorder is caused by pathogenic variants in the NARS1 gene. The aim of the present study was to determine the genetic reason for the epilepsy and microcephaly, observed in the tested patient. Using whole exome sequencing two novel heterozygous variants c.676G>C, p.Val226Leu and c.986G>A, p.Arg329Gln in the NARS1 gene were detected. The obtained results from the molecular-genetic analysis can enrich the spectrum of epilepsy related variants and can explain the genetic etiology of a severe epileptic disease.

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DOI: https://doi.org/10.2478/amb-2022-0020 | Journal eISSN: 2719-5384 | Journal ISSN: 0324-1750

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Language: English

Page range: 48 - 50

Submitted on: Mar 3, 2022

Accepted on: Mar 31, 2022

Published on: Jul 11, 2022

Published by: Sofia Medical University

In partnership with: Paradigm Publishing Services

Publication frequency: 4 issues per year

Keywords:

NARS1 gene,

novel variants,

whole exome sequencing,

epilepsy

Related subjects:

Medicine,

Basic medical science,

Immunology,

Clinical medicine,

Clinical medicine, other

© 2022 S. Atemin, T. Todorov, I. Tourtourikov, V. Mitev, A. Todorova, published by Sofia Medical University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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