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Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a001560. doi: 10.1101/mcs.a001560.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Author information

1
Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
2
Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
3
The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
4
Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
5
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
6
Department of Biomedical Sciences, City University of Hong Kong, Hong Kong SAR.
7
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
8
Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
9
Codified Genomics LLC, Houston, Texas 77004, USA.

Abstract

Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant 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 to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function.

KEYWORDS:

brain atrophy; congenital lactic acidosis; elevated brain lactate level by MRS; infantile encephalopathy; lethal infantile mitochondrial myopathy; mitochondrial encephalopathy

PMID:
28299359
PMCID:
PMC5334471
DOI:
10.1101/mcs.a001560
[Indexed for MEDLINE]
Free PMC Article

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