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Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy

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收录情况： ◇ SCIE ◇ 统计源期刊 ◇ CSCD-C ◇ 中华系列

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机构： [1]Capital Med Univ, Dept Pediat Cardiol, Beijing Anzhen Hosp, Beijing 100029, Peoples R China

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关键词： Pediatric Restrictive Cardiomyopathy Phenotype Classification TNNI3 Whole-exome Sequencing

摘要：

Background: Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I (cTnI) mutation-caused myofibril Ca2+ hypersensitivity has been shown to be associated with impaired diastolic function. This study aimed to investigate the linkage between the genotype and clinical therapy of RCM. Methods: Five sporadic pediatric RCM patients confirmed by echocardiography were enrolled in this study. Whole-exome sequencing (WES) was performed for the cohort to find out candidate causative gene variants. Sanger sequencing confirmed the WES-identified variants. Results: TNN13 variants were found in all of the five patients. R192H mutation was shared in four patients while R204H mutation was found only in one patient. Structure investigation showed that the C terminus of TNNI3 was flexible and mutation on the C terminus was possible to cause the RCM. Catechins were prescribed for the five patients once genotype was confirmed. Ventricular diastolic function was improved in three patients during the follow-up. Conclusions: Our data demonstrated that TNNJ3 mutation-induced RCM1 is the most common type of pediatric RCM in this study. In addition, WES is a reliable approach to identify likely pathogenic genes of RCM and might be useful for the guidance of clinical treatment scheme.

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出版当年[2016]版：

大类 | 4 区医学

小类 | 4 区医学：内科

最新[2023]版：

大类 | 3 区医学

小类 | 3 区医学：内科

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出版当年[2015]版：

Q3 MEDICINE, GENERAL & INTERNAL

最新[2023]版：

Q1 MEDICINE, GENERAL & INTERNAL

影响因子： 7.5 最新[2023版] 4.9 最新五年平均 0.957 出版当年[2015版] 1.017 出版当年五年平均 1.053 出版前一年[2014版] 1.064 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Dept Pediat Cardiol, Beijing Anzhen Hosp, Beijing 100029, Peoples R China

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通讯机构： [1]Capital Med Univ, Dept Pediat Cardiol, Beijing Anzhen Hosp, Beijing 100029, Peoples R China

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