导致儿茶酚胺能多态性室性心动过速的 TECRL 新变异。

IF 3.3 2区生物学 Q1 BIOLOGY Life Science Alliance Pub Date : 2024-05-22 Print Date: 2024-08-01 DOI:10.26508/lsa.202402572

Douglas Jones, Jacob Hartung, Elizabeth Lasalle, Alejandro Borquez, Viridiana Murillo, Lucia Guidugli, Kiely N James, Stephen F Kingsmore, Nicole G Coufal

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引用次数: 0

摘要

已知 TECRL 基因中的致病变异和可能致病变异与隐性儿茶酚胺能多态性室性心动过速 3（可包括 QT 间期延长）有关（MIM#614021）。我们报告了一例在社区发生的心脏骤停病例，患者是一名原本健康的青少年男性。我们发现该患者的 TECRL 变异（c.915T>G [p.Tyr305Ter]）可能是一种新型的母系遗传致病变异，而且其母亲体内也未发现包含 TECRL 多个外显子的 19 kb 重复序列（chr4:65165944-65185287，dup [4q13.1]）。通过快速全基因组测序揭示了基因结果，从而可以进行适当的治疗和预后判断。

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Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Pathogenic and likely pathogenic variants in the TECRL gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T>G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.

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来源期刊

Life Science Alliance Agricultural and Biological Sciences-Plant Science

CiteScore

5.80

自引率

2.30%

发文量

241

审稿时长

10 weeks

期刊介绍： Life Science Alliance is a global, open-access, editorially independent, and peer-reviewed journal launched by an alliance of EMBO Press, Rockefeller University Press, and Cold Spring Harbor Laboratory Press. Life Science Alliance is committed to rapid, fair, and transparent publication of valuable research from across all areas in the life sciences.

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