Open AccessA novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy
Author(s) -
M. Muglia,
Giovanni Vazza,
A Patitucci,
Monica Milani,
Davide Pareyson,
Franco Taroni,
Aldo Quattrone,
Maria Luisa Mostacciuolo
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.08.2008.0652
Subject(s) - mfn2 , genetics , mutation , phenotype , medicine , gene , genetic linkage , genetic heterogeneity , mitochondrial dna , biology , mitochondrial fusion
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. CMT falls into two main forms: the demyelinating CMT type 1 with decreased nerve conduction velocities and the axonal CMT type 2. CMT2 is further subtyped by linkage analysis into >10 loci, with eight genes identified.Recently, mutations in the mitochondrial fusion protein 2 (MFN2) gene were reported in families with CMT2A1 and additional mutations have been detected in other studies, bringing to 42 the total number of different MFN2 mutations described thus far.2(-)4In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy.