Artículos de revistas
Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2
Fecha
2011Registro en:
NEUROMUSCULAR DISORDERS, v.21, n.6, p.428-432, 2011
0960-8966
10.1016/j.nmd.2011.03.008
Autor
GENARI, Adriana Borges
BORGHETTI, Vinicius Horacio Stefani
GOUVEA, Silmara Paula
BUENO, Keity Cristina
SANTOS, Patricia Leila dos
SANTOS, Antonio Carlos dos
BARREIRA, Amilton Antunes
LOURENCO, Charles Marques
MARQUES JR., Wilson
Institución
Resumen
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 nova 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. (C) 2011 Elsevier B.V. All rights reserved.