Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-11-26 DOI:10.1159/000542097

Hazal Sezginer Guler, Drenushe Zhuri, Sinem Yalcintepe, Servet Altay, Murat Deveci, Selma Demir, Hanefi Yekta Gurlertop, Engin Atli, Emine İkbal Atli, Hakan Gurkan

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引用次数: 0

Abstract

Background: Primary heart muscle diseases called cardiomyopathy (CMP) constitute an important group of subsequent heart disorders. CMPs are basically divided into four subgroups associated with the heart muscle but clinically distinguishable: hypertrophic CMP (HCM), dilated CMP (DCM), restrictive CMP (RCM), and left ventricular non-compaction CMP.

Material and methods: The results of the patients who applied to the Genetic Diseases Evaluation Center with the preliminary diagnosis of clinical CMP were evaluated retrospectively in the current study. In the current study, 103 cases were included and evaluated for phenotype-genotype association with the CMP next-generation sequencing (NGS) panel.

Results: Fifty-eight different variants were identified in 45 patients. Sixteen out of those 58 variants were novel. Of these variants, 19 (32.75%) were likely pathogenic (LP)/pathogenic (P), and 35 (60.34%) were variants of uncertain significance.

Conclusion: The prevalence of pathogenic variants in target genes associated with CMP is important for our current country's population, and multiple gene groups associated with CMP can be screened through NGS. The contribution rate to the clinical diagnosis was 18.44% in terms of the individual population who applied to our medical genetics center and were compatible with the CMP indication.

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新一代测序方法评价心肌病相关靶基因及表型-基因型关系的研究。

背景：原发性心肌疾病心肌病（CMP）是继发性心脏疾病的重要组成部分。CMP基本上分为与心肌相关但临床可区分的四个亚组：肥厚性CMP （HCM）、扩张性CMP （DCM）、限制性CMP （RCM）和左心室非压实性CMP。材料与方法：本研究对初步诊断为临床CMP的申请遗传病评价中心的患者进行回顾性评价。在目前的研究中，103例病例被纳入并通过CMP下一代测序（NGS）面板评估表型-基因型相关性。结果：在45例患者中鉴定出58种不同的变异。这58个变体中有16个是新颖的。其中19个（32.75%）为可能致病性(LP)/致病性(P)， 35个（60.34%）为意义不确定的变异。结论：CMP相关靶基因的致病变异患病率对我国当前人群具有重要意义，通过NGS可筛选出CMP相关的多个基因群。在向我们医学遗传中心申请并符合CMP适应症的个体人群中，对临床诊断的贡献率为18.44%。

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

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.