ArticleJournal of cardiovascular development and disease2022
Further Evidence of Autosomal Recessive Inheritance of
Article in Journal of cardiovascular development and disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 13 citations in OpenAlex.
- Chromatin topology control by a muscle-specific ribosomal protein.bioRxiv : the preprint server for biology · 2026Article
- Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report.The Journal of international medical research · 2026Article
- Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.Nature cardiovascular research · 2026Article
- Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Regulation of Protein Synthesis at the Translational Level: Novel Findings in Cardiovascular Biology.Biomolecules · 2025Review
- Unraveling mitochondrial crosstalk: a new frontier in heart failure pathogenesis.Frontiers in cardiovascular medicine · 2025Review
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- Exploring the Regulation and Function ofGenes · 2023Article
- Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.BMC medical genomics · 2023Review
- RPL3L-containing ribosomes determine translation elongation dynamics required for cardiac function.Nature communications · 2023Article
- Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.Nature cardiovascular research · 2023Article
- Article
- Compound Heterozygous Missense Variants inChildren (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neonatal dilated cardiomyopathy (DCM) is rare with high etiologic heterogeneity. Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. In the present brief report, we identified two pathogenic RPL3L variants, each harbored in unaffected heterozygous parents: mother (RPL3L c.1076_1080delCCGTG (p.Ala359Glyfs*4)) and father (RPL3L c.80G > A (p.Gly27Asp)). Pathogenic variants were segregated as autosomal recessive to two offspring born with compound heterozygous RPL3L variants and affected by neonatal DCM. This is the second report in the literature to the best of our knowledge and our findings support the pathogenicity of biallelic RPL3L pathologic variants associated with rapidly progressive neonatal DCM and heart failure with a poor prognosis.
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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 Socratic graph.