ArticleJournal of the American Heart Association2015
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
Article in Journal of the American Heart Association, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Treatment with αvβ3-integrin-specific 29P attenuates pressure-overload induced cardiac remodelling after transverse aortic constriction in mice.Journal of molecular and cellular cardiology plus · 2024Article
- Single-cell and spatial transcriptomics of the infarcted heart define the dynamic onset of the border zone in response to mechanical destabilization.Nature cardiovascular research · 2022Article
- Multiomic analyses reveal enriched glycolytic processes in β-myosin heavy chain-expressed cardiomyocytes in early cardiac hypertrophy.Journal of molecular and cellular cardiology plus · 2022Article
- Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients.Pediatric cardiology · 2022Article
- Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) inReports of biochemistry & molecular biology · 2021Article
- Intercalated disc protein Xinβ is required for Hippo-YAP signaling in the heart.Nature communications · 2020Article
- Analysis ofJournal of clinical medicine · 2020Article
- Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.Pediatric cardiology · 2019Article
- Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.Journal of molecular medicine (Berlin, Germany) · 2018Review
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Pediatric Dilated Cardiomyopathy-AssociatedJournal of the American Heart Association · 2018Article
- Transcriptome Analysis of Cardiac Hypertrophic Growth inFrontiers in physiology · 2018Article
- A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Circulation. Cardiovascular genetics · 2017Article
- Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.Journal of cardiovascular development and disease · 2017Article
- Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.Human molecular genetics · 2017Article
- An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.Human genetics · 2017Article
- Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.European journal of human genetics : EJHG · 2017Article
- De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.Human genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundIdiopathic dilated cardiomyopathy (DCM) is typically diagnosed in adulthood, yet familial cases exhibit variable age-dependent penetrance and a subset of patients develop sporadic DCM in childhood. We sought to discover the molecular basis of sporadic DCM in an 11-year-old female with severe heart failure necessitating cardiac transplantation. METHODS AND
resultsParental echocardiograms excluded asymptomatic DCM. Whole exome sequencing was performed on the family trio and filtered for rare, deleterious, recessive, and de novo variants. Of the 8 candidate genes identified, only 2 had a role in cardiac physiology. A de novo missense mutation in TNNT2 was identified, previously reported and functionally validated in familial DCM with markedly variable penetrance. Additionally, recessive compound heterozygous truncating mutations were identified in XIRP2, a member of the ancient Xin gene family, which governs intercalated disc (ICD) maturation. Histomorphological analysis of explanted heart tissue revealed misregistration, mislocalization, and shortening of ICDs, findings similar to Xirp2(-/-) mice.
conclusionsThe synergistic effects of TNNT2 and XIRP2 mutations, resulting in perturbed sarcomeric force generation and transmission, respectively, would account for an early-onset heart failure phenotype. Whereas the importance of Xin proteins in cardiac development has been well established in animal models, this study implicates XIRP2 as a novel modifier gene in the pathogenesis of DCM.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.