Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-09-09 DOI:10.1002/ajmg.a.63838

Constantinos Patsalis, Skevi Kyriakou, Michaella Georgiadou, Lygia Ioannou, Louisa Constantinou, Valando Soteriou, Antonis Jossif, Paola Evangelidou, Carolina Sismani, Elena Kypri, Marios Ioannides, George Koumbaris

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引用次数: 0

Abstract

Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) have significant phenotypic overlap and a similar genetic background, both caused mainly by variants in sarcomeric genes. HCM is the most common cardiomyopathy, while RCM is a rare and often underdiagnosed heart condition, with a poor prognosis. This study focuses on a large family with four infants diagnosed with fatal RCM associated with biventricular hypertrophy. Affected infants were found to be homozygous for NM_003280.3(TNNC1):c.23C>T(p.Ala8Val) variant. Interestingly, this variant resulted in a low penetrance and mild form of hypertrophic cardiomyopathy (HCM) in relatives carrying a single copy of the variant. Overall, this study underscores the complex nature of genetic inheritance in cardiomyopathies and the wide range of clinical presentations they can exhibit. This emphasizes the vital role of genetic testing in providing essential insights crucial for diagnosis, prognosis, early intervention, and the development of potential treatment strategies.

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通过一项全面的家族研究调查 TNNC1 基因遗传和临床结果。

肥厚型心肌病（HCM）和限制性心肌病（RCM）在表型上有明显的重叠，遗传背景相似，都主要由肉瘤基因变异引起。HCM 是最常见的心肌病，而 RCM 是一种罕见的心脏疾病，往往诊断不足，预后较差。本研究的重点是一个大家庭中的四名婴儿，他们被诊断出患有致命的 RCM，并伴有双心室肥大。受影响的婴儿均为 NM_003280.3(TNNC1):c.23C>T(p.Ala8Val)变异的同卵双生型。有趣的是，该变异导致携带单个变异拷贝的亲属出现低渗透性和轻度肥厚型心肌病（HCM）。总之，这项研究强调了心肌病遗传的复杂性及其可能表现出的多种临床表现。这强调了基因检测在提供诊断、预后、早期干预和开发潜在治疗策略所需的重要信息方面的重要作用。

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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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.