title: A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
abstract: NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations.
authors.affiliation: Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: Oscar
authors.initials: O
authors.lastname: Ortega-Recalde
authors.forename: Dora Janeth
authors.initials: DJ
authors.lastname: Fonseca
authors.forename: Liliana Catherine
authors.initials: LC
authors.lastname: Patiño
authors.forename: Juan Jaime
authors.initials: JJ
authors.lastname: Atuesta
authors.forename: Carolina
authors.initials: C
authors.lastname: Rivera-Nieto
authors.forename: Carlos Martín
authors.initials: CM
authors.lastname: Restrepo
authors.forename: Heidi Eliana
authors.initials: HE
authors.lastname: Mateus
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
mesh_terms: D000595:Amino Acid Sequence; D002675:Child, Preschool; D042967:Electron Transport Complex I; D004734:Energy Metabolism; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009245:NADH Dehydrogenase / Q000737:chemistry / Q000235:genetics*
chemical_list: C112232:NDUFV1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I
keywords: CI; Diffuse leukodystrophy; Genetics; MD; Mitochondrial disease; NDUFV1 mutations; NMD; complex I; mitochondrial respiratory chain disorders; nonsense-mediated decay