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

Autor: Bruno Augusto Telles, Mara Lúcia Schmitz Ferreira Santos, Cristiane Benincá, Vanessa Zanette, Daniel Almeida do Valle, Vaneisse Cristina Lima Monteiro, Alan J. Robinson, Ricardo L.R. Souza
Přispěvatelé: Zanette, Vanessa [0000-0003-4480-2286], Valle, Daniel do [0000-0001-9005-6726], Monteiro, Vaneisse [0000-0003-4062-4638], Souza, Ricardo Lehtonen R [0000-0003-2591-8857], Benincá, Cristiane [0000-0001-7933-860X], Apollo - University of Cambridge Repository
Rok vydání: 2021
Předmět:
Zdroj: Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20210149, Published: 19 NOV 2021
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology
ISSN: 1678-4685
1415-4757
DOI: 10.1590/1678-4685-gmb-2021-0149
Popis: 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.
Databáze: OpenAIRE
Externí odkaz: