<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</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.

Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the <italic>NARS1</italic> Gene

Department of Medical Chemistry and Biochemistry

Genetic Medico-Diagnostic Laboratory “Genica” – Sofia

Acta Medica Bulgarica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

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...

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

Data publikacji: 11 lip 2022

Zakres stron: 48 - 50

Otrzymano: 03 mar 2022

Przyjęty: 31 mar 2022

DOI: https://doi.org/10.2478/amb-2022-0020

Słowa kluczowe
NARS1 gene, novel variants, whole exome sequencing, epilepsy

© 2022 S. Atemin et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Data publikacji: 11 lip 2022

Zakres stron: 48 - 50

Otrzymano: 03 mar 2022

Przyjęty: 31 mar 2022

DOI: https://doi.org/10.2478/amb-2022-0020

Słowa kluczoweNARS1 gene, novel variants, whole exome sequencing, epilepsy

© 2022 S. Atemin et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Słowa kluczowe
NARS1 gene, novel variants, whole exome sequencing, epilepsy