C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation

Monica Gagliardi; Grazia Annesi; G Lesca; E Broussolle; Grazia Iannello; Vincenzo Vaiti; Antonio Gambardella; Aldo Quattrone

doi:10.1016/j.parkreldis.2015.04.009

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation

Parkinsonism Relat Disord. 2015 Jul;21(7):813-6. doi: 10.1016/j.parkreldis.2015.04.009. Epub 2015 Apr 23.

Authors

Monica Gagliardi¹, Grazia Annesi², G Lesca³, E Broussolle⁴, Grazia Iannello⁵, Vincenzo Vaiti², Antonio Gambardella⁶, Aldo Quattrone⁵

Affiliations

¹ Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy. Electronic address: monicg_2002@yahoo.it.
² Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
³ 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.
⁴ Université Lyon I, Centre de Neurosciences Cognitives, CNRS UMR5229, Lyon, France; Service de Neurologie C, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
⁵ 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.
⁶ Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

PMID: 25962551
DOI: 10.1016/j.parkreldis.2015.04.009

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.

Keywords: C19orf12; Iron accumulation; MPAN; NBIA.

Publication types

Case Reports
Letter

MeSH terms

Amino Acid Sequence
Brain / metabolism*
Brain / pathology
Child
Female
Humans
Iron / metabolism*
Male
Mitochondrial Membrane Transport Proteins / genetics
Mitochondrial Proteins / genetics*
Molecular Sequence Data
Mutation / genetics*
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics*
Neurodegenerative Diseases / metabolism*
Pedigree
Young Adult

Substances

C19orf12 protein, human
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins
Iron