A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

AIFM1 is a gene located on the X chromosome, coding for AIF (Apoptosis-Inducing Factor), a mitochondrial flavoprotein involved in caspase-independent cell death. AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phospho...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2016-03, Vol.24 (3), p.463-466
Main Authors: Diodato, Daria, Tasca, Giorgio, Verrigni, Daniela, D'Amico, Adele, Rizza, Teresa, Tozzi, Giulia, Martinelli, Diego, Verardo, Margherita, Invernizzi, Federica, Nasca, Alessia, Bellacchio, Emanuele, Ghezzi, Daniele, Piemonte, Fiorella, Dionisi-Vici, Carlo, Carrozzo, Rosalba, Bertini, Enrico
Format: Article
Language:English
Subjects:
Age
Amino Acid Sequence
Apoptosis
Apoptosis Inducing Factor - chemistry
Apoptosis Inducing Factor - genetics
Apoptosis-inducing factor
Biopsy
Caspase
Cell death
Charcot-Marie-Tooth disease
Coding
Cognitive ability
Cytochrome
Cytochrome-c oxidase
Deafness
Denervation
EMG
Encephalopathy
Families & family life
Family
Genetic Predisposition to Disease
Genetics
Humans
Infant
Infant, Newborn
Male
Mitochondria
Molecular Sequence Data
Motor neuron disease
Motor Neuron Disease - genetics
Motor neurone disease
Mutation
Mutation - genetics
Neurodegeneration
Neuropathy
Ostomy
Oxidative phosphorylation
Phenotype
Phenotypes
Phosphorylation
Sensorimotor system
Sequence Alignment
Short Report
Teeth
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Summary:AIFM1 is a gene located on the X chromosome, coding for AIF (Apoptosis-Inducing Factor), a mitochondrial flavoprotein involved in caspase-independent cell death. AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and cognitive impairment. In two male cousins with early-onset mitochondrial encephalopathy and cytochrome c oxidase (COX) deficiency, we identified a novel AIFM1 mutation. Muscle biopsies and electromyography in both patients showed signs of severe denervation. Our patients manifested a phenotype that included signs of both cortical and motor neuron involvement. These observations emphasize the role of AIF in the development and function of neurons.
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2015.141