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Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2 |
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| Authors: | Genari Adriana Borges Borghetti Vinícius Horácio Stefani Gouvêa Silmara Paula Bueno Keity Cristina dos Santos Patrícia Leila dos Santos Antonio Carlos Barreira Amilton Antunes Lourenço Charles Marques Marques Wilson |
| Institution: | a Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, USP, Brazil b Department of Internal Medicine, Division of Radiology, School of Medicine of Ribeirão Preto, University of São Paulo, USP, Brazil c National Science and Technology Institute (INCT) for Translational Medicine, USA |
| Abstract: | Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy. Neuropsychological tests and brain MRI were also performed. A de novo mutation was found in exon 4 (c.310C > T; p.R104W). In addition to a severe and early onset axonal neuropathy, the patient presented learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy and evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy. These results suggest that MFN2 p.R104W mutation is as a hot-spot for MFN2 gene associated to a large and complex range of phenotypes. |
| Keywords: | Charcot-Marie-Tooth disease CMT2A Hereditary motor and sensory neuropathy MFN2 R104W mutation |
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