title: Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
abstract: We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in two patients. Four of the mutations are novel and affect amino acid residues that either are invariant among species or conserved in their properties. The presented clinical courses are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1.
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address: kristoffer.bjorkman@gu.se.
authors.forename: Kristoffer
authors.initials: K
authors.lastname: Björkman
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address: kalliopi.sofou@vgregion.se.
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Sofou
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address: niklas.darin@vgregion.se.
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
authors.affiliation: Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: elisabeth.holme@clinchem.gu.se.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Holme
authors.affiliation: Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: gittan.kollberg@gu.se.
authors.forename: Gittan
authors.initials: G
authors.lastname: Kollberg
authors.affiliation: Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: jorge.cayuela@clinchem.gu.se.
authors.forename: Jorge
authors.initials: J
authors.lastname: Asin-Cayuela
authors.affiliation: Akershus University Hospital, Lørenskog, Norway. Electronic address: karin.m.holmberg.dahle@ahus.no.
authors.forename: Karin M
authors.initials: KM
authors.lastname: Holmberg Dahle
authors.affiliation: Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: anders.oldfors@gu.se.
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
authors.affiliation: Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. Electronic address: ali-reza.moslemi@pathology.gu.se.
authors.forename: Ali-Reza
authors.initials: AR
authors.lastname: Moslemi
authors.affiliation: Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address: mar.tulinius@vgregion.se.
authors.forename: Már
authors.initials: M
authors.lastname: Tulinius
mesh_terms: D042967:Electron Transport Complex I / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D056784:Leukoencephalopathies / Q000235:genetics / Q000473:pathology*; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology*; D050505:Mutant Proteins / Q000235:genetics / Q000378:metabolism; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000378:metabolism*; D016019:Survival Analysis
chemical_list: D050505:Mutant Proteins; C487793:NDUFS1 protein, human; C112232:NDUFV1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I
keywords: Leukoencephalopathies; MITOCHONDRIAL encephalomyopathies; Mitochondrial complex I deficiency; NADH-ubiquinone oxidoreductase Fe–S protein 1 (NDUFS1) mutations; NADH-ubiquinone oxidoreductase flavoprotein 1 (NDUFV1) mutations