ArticleExperimental and therapeutic medicine2020
Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene.
Article in Experimental and therapeutic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1EMBO molecular medicine · 2026Article
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.Frontiers in cell and developmental biology · 2021Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identified mutations in the G elongation factor mitochondrial 1 (GFM1) gene have been associated with heterogeneous clinical features of an early-onset mitochondrial disease in only 25 families. The present study reports the case of two siblings with a novel GFM1 variant and their clinical and laboratory presentations, which included progressive hepatic encephalopathy, failure to thrive and persistent lactic acidemia. Both histological changes and diminished expression of the GFM1 protein were observed in the liver and kidney tissues of the index patient. Whole-exome and Sanger sequencing technologies were used to diagnose the index patient with defective GFM1 using amniocentesis at 32 weeks' gestation. Heterozygous mutations in the GFM1 gene were identified in both siblings: A novel mutation, C1576T in exon 13 inherited from their asymptomatic mother, resulting in a premature stop codon at amino acid position 526 and the previously reported G688A mutation on the boundary between exon 5 and intron 5-6, inherited from their asymptomatic father. In conclusion, the present study reports two siblings carrying a novel GFM1 variant with a rare fatal mitochondrial disease.
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