Finsterer和Zarrouk-Mahjoub关于文章“全基因组测序、连锁和功能研究的结合表明，Titin错义突变是常染色体显性心肌病与左心室非压实特征的原因”的信。

Q Medicine

Circulation-Cardiovascular Genetics Pub Date : 2016-12-01 DOI:10.1161/CIRCGENETICS.116.001630

J. Finsterer, S. Zarrouk-Mahjoub

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引用次数: 0

摘要

带着兴趣，我们阅读了Hastings等人的一篇文章1，该文章讲述了一个三代人的家族，其中7人携带titin突变p.A178D, 5人(超声心动图3人，心脏磁共振成像[MRI] 2人)患有左心室超纤颤/非压实(LVHT)。我们有以下评论和关切。迄今为止，任何bbbb40基因突变与LVHT和LVHT相关的许多染色体缺陷之间的因果关系尚未得到证实。反对因果关系的论点是，只有少数患者在这些被认为是致病基因的任何一个特定突变中真正发展为LVHT;…

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Letter by Finsterer and Zarrouk-Mahjoub Regarding Article, "Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction".

With interest, we read the article by Hastings et al1 about a 3-generation family in whom 7 members carried the titin mutation p.A178D , and 5 (3 on echocardiography and 2 on cardiac magnetic resonance imaging [MRI]) had left ventricular hypertrabeculation/noncompaction (LVHT). We have the following comments and concerns. To date, a causal relation between mutations in any of the >40 genes and many chromosomal defects associated with LVHT and LVHT has never been proven. Arguments against a causal relation are that only a small number of patients with a certain mutation in any of these genes regarded as causative truly develop LVHT; …

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来源期刊

Circulation-Cardiovascular Genetics CARDIAC & CARDIOVASCULAR SYSTEMS-GENETICS & HEREDITY

CiteScore

3.95

自引率

0.00%

发文量

期刊介绍： Circulation: Genomic and Precision Medicine considers all types of original research articles, including studies conducted in human subjects, laboratory animals, in vitro, and in silico. Articles may include investigations of: clinical genetics as applied to the diagnosis and management of monogenic or oligogenic cardiovascular disorders; the molecular basis of complex cardiovascular disorders, including genome-wide association studies, exome and genome sequencing-based association studies, coding variant association studies, genetic linkage studies, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics; integration of electronic health record data or patient-generated data with any of the aforementioned approaches, including phenome-wide association studies, or with environmental or lifestyle factors; pharmacogenomics; regulation of gene expression; gene therapy and therapeutic genomic editing; systems biology approaches to the diagnosis and management of cardiovascular disorders; novel methods to perform any of the aforementioned studies; and novel applications of precision medicine. Above all, we seek studies with relevance to human cardiovascular biology and disease. Manuscripts are examined by the editorial staff and usually evaluated by expert reviewers assigned by the editors. Both clinical and basic articles will also be subject to statistical review, when appropriate. Provisional or final acceptance is based on originality, scientific content, and topical balance of the journal. Decisions are communicated by email, generally within six weeks. The editors will not discuss a decision about a manuscript over the phone. All rebuttals must be submitted in writing to the editorial office.