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遗传性心律失常的基因检测：当前技术水平与未来发展方向

Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.

作者信息

Hylind Robyn J, Chandler Stephanie F, Skinner Jonathan R, Abrams Dominic J

机构信息

Inherited Cardiac Arrhythmia Program, Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

Green Lane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.

出版信息

J Innov Card Rhythm Manag. 2018 Nov 15;9(11):3406-3416. doi: 10.19102/icrm.2018.091102. eCollection 2018 Nov.

DOI:10.19102/icrm.2018.091102
PMID:32494476
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7252877/
Abstract

The seminal discovery that sequence variation in genes encoding cardiac ion channels was behind the inherited cardiac arrhythmic syndromes has led to major advances in understanding the functional biological mechanisms of cardiomyocyte depolarization and repolarization. The cost and speed with which these genes can now be sequenced have allowed for genetic testing to become a major component of clinical care and have led to important ramifications, yet interpretation of specific variants needs to be performed within the context of the clinical findings in the proband and extended family. As technology continues to advance, the promise of therapeutic manipulation of certain genetic pathways grows ever more real.

摘要

一项具有开创性的发现表明，编码心脏离子通道的基因序列变异是遗传性心律失常综合征的病因，这使得我们在理解心肌细胞去极化和复极化的功能性生物学机制方面取得了重大进展。如今，对这些基因进行测序的成本和速度使得基因检测成为临床护理的一个主要组成部分，并产生了重要影响，然而，特定变异的解读需要在先证者及其大家庭的临床发现背景下进行。随着技术的不断进步，对某些遗传途径进行治疗性操控的前景变得越来越现实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/194344dc5e6f/icrm-09-3406-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/6f8eb5c6889c/icrm-09-3406-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/b96a2d27b937/icrm-09-3406-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/b6ad2266cbb9/icrm-09-3406-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/194344dc5e6f/icrm-09-3406-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/6f8eb5c6889c/icrm-09-3406-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/b96a2d27b937/icrm-09-3406-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/b6ad2266cbb9/icrm-09-3406-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d83/7252877/194344dc5e6f/icrm-09-3406-g004.jpg

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Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.临床医生和检测实验室之间变异解读的显著临床差异：单中心经验。
Genet Med. 2018 Mar;20(3):369-373. doi: 10.1038/gim.2017.212. Epub 2017 Dec 14.
3
Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a Mutation.
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Circ Cardiovasc Genet. 2017 Oct;10(5). doi: 10.1161/CIRCGENETICS.117.001755.
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Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.预测意义未明的KCNQ1基因变异的功能影响。
Circ Cardiovasc Genet. 2017 Oct;10(5). doi: 10.1161/CIRCGENETICS.117.001754.
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Loss-of-Function Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?功能丧失性变异：长QT综合征真正的单基因致病因素还是需要二次激发的促心律失常变异？
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