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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A novel c.973GT mutation in the ?μ-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
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A novel c.973GT mutation in the ?μ-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

机译：乙酰胆碱受体的αμ-亚基的一种新型C.973g> T突变，导致伊朗家庭先天性肌炎症综合征

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Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973GT was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973GT was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.
机译：先天性染发素综合征（CMS）构成了一组遗传性的神经肌肉连接点的遗传性疾病。大多数突触后综合征导致ChrNe基因中的突变导致肌肉尼古丁乙酰胆碱缺乏。在这项研究中，我们报告了一个2和半岁的男孩，具有正常的发育里程碑和双侧脑病。评估临床课程，电生理学研究和分子遗传分析。对Quchane基因的聚合酶链反应（PCR）和直接DNA测序用于验证和所有家庭成员。在Chrne基因中发现了C.973G> T的新型纯合的致畸突变。分离研究被认为是疾病的遗传原因。在Silico工具中使用三种和美国医学遗传学和基因组学院校/分子病理学课程（ACMG / AMP）变异分类指南表明，新型变异C.973g> T可能是致病性的。我们的结果建议首次筛选伊朗源性致病性突变的核基因。

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