A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation |
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| Authors: | Paula Sancho Ana Sánchez-Monteagudo Antonio Collado Clara Marco-Marín Cristina Domínguez-González Ana Camacho Erwin Knecht Carmen Espinós Vincenzo Lupo |
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| Affiliation: | 1.Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF),Valencia,Spain;2.INCLIVA & IIS La Fe Rare Diseases Joint Units,Valencia,Spain;3.Instituto de Biomedicina de Valencia (IBV)–CSIC,Valencia,Spain;4.Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)–ISCIII,Valencia,Spain;5.Unit of Neuromuscular,Instituto de Investigación i+12,Madrid,Spain;6.Department of Neuropediatrics,Hospital Universitario 12 de Octubre,Madrid,Spain;7.Faculty of Medicine,Universidad Complutense de Madrid (UCM),Madrid,Spain;8.Unit of Intracellular Protein Degradation,Centro de Investigación Príncipe Felipe (CIPF),Valencia,Spain;9.Department of Genomics and Translational Genetics,Centro de Investigación Príncipe Felipe (CIPF),Valencia,Spain |
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| Abstract: | In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a fragmented mitochondrial network were observed in the proband’s fibroblasts. This new form of motor neuropathy expands the phenotypic spectrum of AIFM1 mutations and therefore, the AIFM1 gene should be considered in the diagnosis of hereditary motor neuropathies. |
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