ArticleBMC research notes2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
Article in BMC research notes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.EMBO molecular medicine · 2026Article
- Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.eLife · 2026Article
- Article
- Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Human genetics · 2022Review
- Mitochondrial Regulation of Diabetic Kidney Disease.Frontiers in medicine · 2021Review
- Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.Saudi journal of biological sciences · 2020Article
- Characterization of the renal phenotype in RMND1-related mitochondrial disease.Molecular genetics & genomic medicine · 2019Article
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.Indian journal of pediatrics · 2018Article
- Renal manifestations of primary mitochondrial disorders.Biomedical reports · 2017Article
- Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.Veterinary sciences · 2017Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundNuclear gene mutations are being increasingly recognised as causes of mitochondrial disease. The nuclear gene RMND1 has recently been implicated in mitochondrial disease, but the spectrum of pathogenic variants and associated phenotype for this gene, has not been fully elucidated. CASE PRESENTATION: An 11-month-old boy presented with renal impairment associated with a truncal ataxia, bilateral sensorineural hearing loss, hypotonia, delayed visual maturation and global developmental delay. Over a 9-year period, he progressed to chronic kidney disease stage V and developed a dilated cardiomyopathy. Abnormalities in renal and muscle biopsy as well as cytochrome c oxidase activity prompted genetic testing. After exclusion of mitochondrial DNA defects, nuclear genetic studies identified compound heterozygous RMND1 (c.713A>G, p. Asn238Ser and c.565C>T, p.Gln189*) variants.
conclusionWe report RMND1 gene variants associated with end stage renal failure, dilated cardiomyopathy, deafness and neurological involvement due to mitochondrial disease. This case expands current knowledge of mitochondrial disease secondary to mutation of the RMND1 gene by further delineating renal manifestations including histopathology. To our knowledge dilated cardiomyopathy has not been reported with renal failure in mitochondrial disease due to mutations of RMND1. The presence of this complication was important in this case as it precluded renal transplantation.
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