Objective: To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing.
Methods: Peripheral blood samples from the two patients and their parents were collected and genomic DNAs were extracted to conduct targeted next generation sequencing or whole exome sequencing. Bioinformation analysis was performed to identify the pathogenic variants in genes associated with cardiomyopathy, which were further validated by Sanger sequencing.
Results: By high throughput sequencing, we detected a de novo heterozygous variant c.549+1G>T in TNNI3 gene in patient 1. The variant has not been reported previously and was predicted to be pathogenic in line with American College of Medical Genetics and Genomics (ACMG) guidelines (PVS1+PS2+PM2). Another heterozygous variant c.433C>T (p.Arg145Trp) in TNNI3 gene was identified in patient 2 and his father. The variant had been reported as pathogenic variant in Clinvar and HGMD databases; based on ACMG guidelines, the variant was predicted to be likely pathogenic (PS3+PM1+PP3).
Conclusion: TNNI3 variants may be the causative gene responsible for restrictive cardiomyopathy in the two patients. High throughput sequencing results provide bases for the diagnosis of restrictive cardiomyopathy.
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http://dx.doi.org/10.3760/cma.j.cn511374-20200602-00406 | DOI Listing |
Front Cardiovasc Med
November 2024
Comprehensive Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Int J Mol Sci
November 2024
Laboratory of Medical Genetics and Evolution, Graduate Program in Genetics and Molecular Biology, Genetics Department, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 91501-970, Brazil.
Congenital heart defects (CHDs) rank among the most common birth defects, presenting diverse phenotypes. Genetic and environmental factors are critical in molding the process of cardiogenesis. However, these factors' interactions are not fully comprehended.
View Article and Find Full Text PDFFront Med (Lausanne)
October 2024
Marseille Medical Genetics (MMG) U1251, Aix Marseille Université, INSERM, Marseille, France.
Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time.
Methods: In this study, we conducted a gene-centric reanalysis of exome data of 200 HCM cases 5 years after the initial analysis.
Pediatr Neonatol
November 2024
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. Electronic address:
Anim Biosci
October 2024
College of Animal Science and Technology, Anhui Agricultural University, Hefei 230036, China.
Objective: To analyze the molecular mechanism of heterosis in East Friesian sheep × Hu sheep (EH) hybrid sheep and Suffolk × EH (SHE) hybrid sheep (Ovis aries).
Methods: In this research, the growth performance data of Hu sheep (H), EH and SHE from birth to 8 months of age were analyzed. Three 8-month-old sheep of each of the three strains (9 sheep in total) were chosen and their longissimus dorsi muscles were collected for transcriptome sequencing.
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