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

ABSTRACT:

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

TNNI3 variants were found in all of the five patients. R192H mutation was shared in four patient

SUBMITTER: Ding WH 

PROVIDER: S-EPMC5717861 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature