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

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2016 Macmillan Publishers Limited.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.

Publication metadata

Author(s): Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2016

Volume: 24

Issue: 3

Pages: 463-466

Print publication date: 01/03/2015

Online publication date: 15/07/2015

Acceptance date: 27/05/2015

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2015.141

PubMed id: 26173962


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