ArticleJournal of human genetics2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Unusual Variants inRare (Amsterdam, Netherlands) · 2026Article
- Neurological manifestations and genotype-phenotype correlations inBrain communications · 2026Article
- Functional Screening of NDUFAF6 Variants in Knockout Cells and Complementary Computational Analysis.Journal of clinical laboratory analysis · 2026Article
- Beyond the Exome: The Role of Noncoding and Regulatory Variants in Monogenic Diseases.Current issues in molecular biology · 2025Review
- Biallelic variants in theMolecular genetics and metabolism reports · 2024Article
- Article
- Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.Frontiers in genetics · 2023Article
- Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.Molecular neurobiology · 2022Article
- Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.Molecules (Basel, Switzerland) · 2022Review
- Article
- Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.Orphanet journal of rare diseases · 2021Article
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Mitochondrial pathways in human health and aging.Mitochondrion · 2020Review
- Human diseases associated with defects in assembly of OXPHOS complexes.Essays in biochemistry · 2018Review
- Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Molecular genetics and metabolismArticle
- Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of theFrontiers in neurologyArticle
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I deficiency. Here we report two siblings and two unrelated subjects with Leigh syndrome, in which we found the same compound heterozygous missense (c.532G>C:p.A178P) and deep intronic (c.420+784C>T) variants in NDUFAF6. We demonstrated that the identified intronic variant creates an alternative splice site, leading to the production of an aberrant transcript. A detailed analysis of whole-exome sequencing data together with the functional validation based on mRNA analysis may reveal pathogenic variants even in non-exonic regions.
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