NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

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...

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Published inGenetics and molecular biology Vol. 44; no. 4; p. e20210149
Main Authors Zanette, Vanessa, Valle, Daniel do, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane
Format Journal Article
LanguageEnglish
Published Sociedade Brasileira de Genética 01.01.2021
Subjects
BIOCHEMISTRY & MOLECULAR BIOLOGY
encephalomyopathies
GENETICS & HEREDITY
Human and Medical Genetics
Leigh Syndrome
metabolic acidosis
mitochondrial diseases
encephalomyopathies
mitochondrial diseases
metabolic acidosis
Leigh Syndrome
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ISSN1415-4757
1678-4685
1678-4685
DOI10.1590/1678-4685-gmb-2021-0149

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Summary: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.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.
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Associate Editor: Filippo Pinto e Vairo
Author Contributions: VZ collected and analyzed data, wrote and edited the manuscript, DV collected data, reviewed and edited the manuscript, BAT collected data, reviewed and edited the manuscript, AJR analyzed data, reviewed and edited the manuscript, VM collected data, reviewed and edited the manuscript, MLSFS supervised data collection, reviewed and edited the manuscript, RLRS supervised genetic analysis, reviewed and edited the manuscript, CB conceptualized, supervised data collection and analysis, writing and revision of the manuscript. All authors read and approved the final version of the manuscript.
Conflict of Interest: The authors declare that there is no conflict of interest that could be perceived as prejudicial to the impartiality of the reported research.
ISSN:1415-4757
1678-4685
1678-4685
DOI:10.1590/1678-4685-gmb-2021-0149