由nar1基因新突变引起的保加利亚患者的神经发育障碍

Q4 Medicine Acta Medica Bulgarica Pub Date : 2022-06-01 DOI:10.2478/amb-2022-0020

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

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引用次数: 0

摘要

NARS1相关神经发育障碍是由NARS1基因的致病性变异引起的。本研究的目的是确定癫痫和小头畸形的遗传原因，观察在测试患者。通过全外显子组测序，检测到NARS1基因中两个新的杂合变异C . 676g >C, p.Val226Leu和C . 986g >A, p.Arg329Gln。从分子遗传学分析中获得的结果可以丰富癫痫相关变异谱，并可以解释严重癫痫疾病的遗传病因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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来源期刊

Acta Medica Bulgarica Medicine-Medicine (all)

CiteScore

0.30

自引率

0.00%

发文量

审稿时长

25 weeks

期刊介绍： About 30 years ago - in 1973, on the initiative of the Publishing House „Medicine and Physical Culture", namely its former director Mr. Traian Ivanov, the Ministry of Health set up and accepted to subsidize a new medical magazine that was to be published only in the English language and had to reflect the status and the achievements of the Bulgarian medical science. Thus the language barrier was overcome and stable relations were established with the international medical society, large libraries, and university centers. The famous internationally known scientist professor Assen A. Hadjiolov was elected edition-in-chief by the first editorial staff and the magazine was named Acta Medica Bulgarica.