NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Telles, Bruno Augusto
Robinson, Alan J
Santos, Mara Lucia SF
Genet Mol Biol
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Zanette, V., Valle, D. d., Telles, B. A., Robinson, A. J., Monteiro, V., Santos, M. L. S., Souza, R. L. R., & et al. (2021). NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.. Genet Mol Biol, 44 (4) https://doi.org/10.1590/1678-4685-GMB-2021-0149
Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.
External DOI: https://doi.org/10.1590/1678-4685-GMB-2021-0149
This record's URL: https://www.repository.cam.ac.uk/handle/1810/332409
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/