title: AIFM1mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
abstract: Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the geneAIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novelAIFM1variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related toAIFM1mutations and provides insights into the role of AIFM1 in cellular function.
authors.affiliation: Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Sarah U
authors.initials: SU
authors.lastname: Morton
authors.affiliation: Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Sanjay P
authors.initials: SP
authors.lastname: Prabhu
authors.affiliation: Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Hart G W
authors.initials: HGW
authors.lastname: Lidov
authors.affiliation: Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR.
authors.forename: Jiahai
authors.initials: J
authors.lastname: Shi
authors.affiliation: Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Irina
authors.initials: I
authors.lastname: Anselm
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Brownstein
authors.affiliation: Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.|Codified Genomics LLC, Houston, Texas 77004, USA.
authors.forename: Matthew N
authors.initials: MN
authors.lastname: Bainbridge
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.affiliation: Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Sara O
authors.initials: SO
authors.lastname: Vargas
authors.affiliation: Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.|The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Pankaj B
authors.initials: PB
authors.lastname: Agrawal
mesh_terms: D051033:Apoptosis Inducing Factor / Q000235:genetics* / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D009135:Muscular Diseases / Q000378:metabolism; D009154:Mutation
chemical_list: C494829:AIFM1 protein, human; D051033:Apoptosis Inducing Factor; D004272:DNA, Mitochondrial
keywords: brain atrophy; congenital lactic acidosis; elevated brain lactate level by MRS; infantile encephalopathy; lethal infantile mitochondrial myopathy; mitochondrial encephalopathy