A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
Por:
P. SANCHO, A. SANCHEZ-MONTEAGUDO, A. COLLADO, C. MARCO-MARIN, C. DOMINGUEZ-GONZALEZ, A. CAMACHO, E. KNECHT, Carmen Espinós and V. LUPO
Publicada:
1 dic 2017
Resumen:
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.
Filiaciones:
:
CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 3, Valencia 46012, Spain
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
:
CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 3, Valencia 46012, Spain
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
A. COLLADO:
CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 3, Valencia 46012, Spain
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
C. MARCO-MARIN:
CSIC, IBV, Valencia, Spain
ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain
C. DOMINGUEZ-GONZALEZ:
Inst Invest I 12, Unit Neuromuscular, Madrid, Spain
A. CAMACHO:
Hosp Univ 12 Octubre, Dept Neuropediat, Madrid, Spain
Univ Complutense Madrid, Fac Med, Madrid, Spain
:
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain
CIPF, Unit Intracellular Prot Degradat, Valencia, Spain
:
CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 3, Valencia 46012, Spain
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
CIPF, Dept Genom & Translat Genet, Valencia, Spain
:
CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, C Eduardo Primo Yufera 3, Valencia 46012, Spain
INCLIVA & IIS La Fe Rare Dis Joint Units, Valencia, Spain
CIPF, Dept Genom & Translat Genet, Valencia, Spain
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