TY - JOUR
T1 - A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
AU - Diodato, Daria
AU - Tasca, Giorgio
AU - Verrigni, Daniela
AU - D'Amico, Adele
AU - Rizza, Teresa
AU - Tozzi, Giulia
AU - Martinelli, Diego
AU - Verardo, Margherita
AU - Invernizzi, Federica
AU - Nasca, Alessia
AU - Bellacchio, Emanuele
AU - Ghezzi, Daniele
AU - Piemonte, Fiorella
AU - Dionisi-Vici, Carlo
AU - Carrozzo, Rosalba
AU - Bertini, Enrico
PY - 2016/3/1
Y1 - 2016/3/1
N2 - 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.
AB - 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.
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U2 - 10.1038/ejhg.2015.141
DO - 10.1038/ejhg.2015.141
M3 - Article
AN - SCOPUS:84958163242
VL - 24
SP - 463
EP - 466
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 3
ER -