title: C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
abstract: A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy. Electronic address: monicg_2002@yahoo.it.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Hospices Civils de Lyon, Claude Bernard Lyon I University, Department of Medical Genetics, Lyon, France; CRNL, National Research Council, UMR 5292, INSERM U1028, Lyon, France.
authors.forename: G
authors.initials: G
authors.lastname: Lesca
authors.affiliation: Université Lyon I, Centre de Neurosciences Cognitives, CNRS UMR5229, Lyon, France; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
authors.forename: E
authors.initials: E
authors.lastname: Broussolle
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Iannello
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Vaiti
authors.affiliation: Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000595:Amino Acid Sequence; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D055815:Young Adult
chemical_list: C568481:C19orf12 protein, human; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D007501:Iron
keywords: C19orf12; Iron accumulation; MPAN; NBIA