Article Text

PDF
A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy
  1. M Muglia1,
  2. G Vazza2,
  3. A Patitucci3,
  4. M Milani4,
  5. D Pareyson4,
  6. F Taroni4,
  7. A Quattrone5,
  8. M L Mostacciuolo7
  1. 1
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
  2. 2
    Department of Biology, University of Padova, Italy
  3. 3
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
  4. 4
    Division of Biochemistry and Genetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy
  5. 5
    Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy
  6. 7
    Department of Biology, University of Padova, Italy
  1. Dr Maria Muglia, Institute of Neurological Sciences, National Research Council, 87050 Mangone (Cosenza), Italy; m.muglia{at}isn.cnr.it

Statistics from Altmetric.com

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.24

In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy.

Vertical transmission and male-to-male inheritance were documented in both families, indicating that CMT2 segregates as an autosomal dominant trait. In family 1, 14 affected individuals were identified in four generations (three deceased before the study). After giving informed consent, eight affected individuals and 12 unaffected family members were examined by neurologists and enrolled in the genetic study. All affected individuals showed bilateral pes cavus, lower extremity wasting and steppage gait; only two of eight affected family members (IV-6, IV-7) complained of leg pain. Electrophysiological examination revealed decreased compound motor action potential (CMAP) and sensory action potential (SAP) amplitudes and mildly slowed motor and sensory nerve conductions that were consistent with …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.