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年轻人群意外自然猝死的基因检测:纽约市首席法医办公室的经验与观点

Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.

作者信息

Tang Yingying, Williams Nori, Sampson Barbara A

机构信息

Molecular Genetics Laboratory, Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016, USA.

Forensic Pathology Department, Office of Chief Medical Examiner, New York, NY, USA.

出版信息

Forensic Sci Med Pathol. 2019 Sep;15(3):481-484. doi: 10.1007/s12024-018-0068-6. Epub 2018 Dec 7.

DOI:10.1007/s12024-018-0068-6
PMID:30535908
Abstract

Postmortem genetic testing is a diagnostic tool that is becoming increasingly utilized. The benefits and limitations of genetic testing in cases of sudden, unexpected death in the young (≤ 40 years old) are reviewed from the perspective of the Office of Chief Medical Examiner of the City of New York, whose Molecular Genetics Laboratory, accredited by College of American Pathologists, has had 15 years of postmortem testing experience. Challenges to the interpretation and communication of testing results are highlighted, and opportunities for improving testing yield are discussed for age groups across the lifespan, from infancy to adulthood.

摘要

尸检基因检测是一种越来越常用的诊断工具。从纽约市首席法医办公室的角度,对年轻(≤40岁)人群突发意外死亡病例中基因检测的益处和局限性进行了综述。该办公室的分子遗传学实验室获得了美国病理学家学会的认可,拥有15年的尸检检测经验。文中强调了检测结果解读和沟通方面的挑战,并讨论了从婴儿期到成年期各年龄段提高检测阳性率的机会。

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本文引用的文献

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Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series.MYBPC3 预测蛋白截断遗传变异携带者的表型变异:基于尸检的病例系列研究。
Cardiovasc Pathol. 2018 Nov-Dec;37:30-33. doi: 10.1016/j.carpath.2018.09.001. Epub 2018 Sep 13.
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Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.外显子组范围内罕见变异在婴儿猝死综合征中的分析。
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Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome.
猝死的尸检基因检测:一篇叙述性综述
Cureus. 2023 Jan 13;15(1):e33728. doi: 10.7759/cureus.33728. eCollection 2023 Jan.
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Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation.死后基因检测在死因调查中越来越成为一种常用工具。
Acad Forensic Pathol. 2022 Dec;12(4):129-139. doi: 10.1177/19253621221124800. Epub 2022 Oct 3.
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Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.40 岁以下人群中猝死患者心脏重量异常的发生率。
J Am Heart Assoc. 2020 Sep 15;9(18):e015699. doi: 10.1161/JAHA.120.015699. Epub 2020 Sep 4.
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Functional characterization of ABCC9 variants identified in sudden unexpected natural death.在意外自然死亡中鉴定出的ABCC9变体的功能特征
Forensic Sci Int. 2019 May;298:80-87. doi: 10.1016/j.forsciint.2019.02.035. Epub 2019 Feb 27.
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Genetic testing in sudden infant death - a wolf in sheep's clothing?婴儿猝死中的基因检测——披着羊皮的狼?
Forensic Sci Med Pathol. 2019 Sep;15(3):329-331. doi: 10.1007/s12024-018-0047-y. Epub 2018 Dec 7.
婴儿长 QT 综合征夜间睡眠期间的自主功能和 QT 间期。
Circ J. 2018 Jul 25;82(8):2152-2159. doi: 10.1253/circj.CJ-18-0048. Epub 2018 Jun 27.
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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.拷贝数变异在心脏性猝死及相关疾病中的作用:遗传学分析及向临床实践的转化。
Eur J Hum Genet. 2018 Jul;26(7):1014-1025. doi: 10.1038/s41431-018-0119-1. Epub 2018 Mar 6.
5
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J Am Coll Cardiol. 2017 May 2;69(17):2146-2148. doi: 10.1016/j.jacc.2017.01.068.
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