Purpose. Next-generation sequencing (NGS) has become more accessible, leading to an increasing number of genetic studies of familial bradycardia being reported. However, most of the variants lack full evaluation. The relationship between genetic factors and bradycardia should be summarized and reevaluated. Methods. We summarized genetic studies published in the PubMed database from 2008/1/1 to 2019/9/1 and used the ACMG/AMP classification framework to analyze related sequence variants. Results. We identified 88 articles, 99 sequence variants, and 34 genes after searching the PubMed database and classified ABCC9, ACTN2, CACNA1C, DES, HCN4, KCNQ1, KCNH2, LMNA, MECP2, LAMP2, NPPA, SCN5A, and TRPM4 as high-priority genes causing familial bradycardia. Most mutated genes have been reported as having multiple clinical manifestations. Conclusions. For patients with familial CCD, 13 high-priority genes are recommended for evaluation. For genetic studies, variants should be carefully evaluated using the ACMG/AMP variant classification framework before publication.

中文翻译：

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使用 ACMG/AMP 变异分类框架重新评估心动过缓遗传学研究中的突变分类

目的。下一代测序 (NGS) 变得更容易获得，导致越来越多的家族性心动过缓基因研究被报道。但是，大多数变体都缺乏完整的评估。应总结和重新评价遗传因素与心动过缓的关系。方法。我们总结了 2008 年 1 月 1 日至 2019 年 9 月 1 日发表在 PubMed 数据库中的遗传研究，并使用 ACMG/AMP 分类框架分析了相关的序列变异。结果. 我们在搜索 PubMed 数据库后确定了 88 篇文章、99 个序列变异和 34 个基因，并将 ABCC9、ACTN2、CACNA1C、DES、HCN4、KCNQ1、KCNH2、LMNA、MECP2、LAMP2、NPPA、SCN5A 和 TRPM4 分类为高优先级基因引起家族性心动过缓。据报道，大多数突变基因具有多种临床表现。结论。对于家族性 CCD 患者，推荐 13 个高优先级基因进行评估。对于遗传研究，在发表前应使用 ACMG/AMP 变体分类框架仔细评估变体。