A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype.
作者： Utkarsh Kohli , Utkarsh Kohli , Hemal M. Nayak , Chenni S. Sriram
DOI: 10.1016/J.JELECTROCARD.2021.04.011
关键词:
摘要: Abstract 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 associated with diverse range phenotypes. Due to incomplete penetrance, delayed expression, inherent low signal-to-noise ratio, marked phenotypic heterogeneity, rare novel variants could be misinterpreted. Hence, defining characteristics these humans importance. We describe heterogeneity noted 4 familial carriers rare, previously unreported, large deletion exon 20 (c.3667-?_c.3840C +?del) discuss mechanisms that underlie this heterogeneity.
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