Division of Pediatric Cardiology, Department of Pediatrics, Comer Children's Hospital and the Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA; Division of Pediatric Cardiology/Electrophysiology, Department of Pediatrics, West Virginia School of Medicine, Morgantown, WV, USA.
Division of Pediatric Cardiology, Department of Pediatrics, Children's Hospital of Michigan, Central Michigan University, Detroit, MI, USA.
J Electrocardiol. 2021 May-Jun;66:131-135. doi: 10.1016/j.jelectrocard.2021.04.011. Epub 2021 Apr 23.
The SCN5A gene, located on chromosome 3p21, has 28 exons and is a member of the human voltage-gated sodium channel gene family. Genetic variation in SCN5A is associated with a diverse range of phenotypes. Due to incomplete penetrance, delayed expression, inherent low signal-to-noise ratio, and marked phenotypic heterogeneity, rare novel variants in SCN5A could be misinterpreted. Hence, defining the phenotypic characteristics of these rare SCN5A variants in humans is of importance. We describe the phenotypic heterogeneity noted in 4 familial carriers of a rare, previously unreported, large deletion in exon 20 of SCN5A (c.3667-?_c.3840C +?del) and discuss the mechanisms that underlie this heterogeneity.
SCN5A 基因位于 3p21 染色体上，有 28 个外显子，是人类电压门控钠离子通道基因家族的成员。SCN5A 的遗传变异与多种表型相关。由于不完全外显、表达延迟、固有低信噪比和明显的表型异质性，SCN5A 中的罕见新变体可能会被误解。因此，确定这些罕见 SCN5A 变体在人类中的表型特征很重要。我们描述了 4 个家族携带者中观察到的表型异质性，这些携带者携带 SCN5A 外显子 20 中的一种罕见的、以前未报道的大片段缺失（c.3667-?_c.3840C +?del），并讨论了这种异质性的潜在机制。
