Table of Contents
Journal of Neurodegenerative Diseases
Volume 2013, Article ID 495873, 5 pages
Clinical Study

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

1Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia
2Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia
3Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia

Received 25 July 2012; Revised 23 October 2012; Accepted 23 October 2012

Academic Editor: Eng King Tan

Copyright © 2013 Obaid M. Albulym et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system. Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A. The V705I variant in MFN2 has been previously reported as a disease-causing mutation in families with CMT2. We identified an affected index patient from an Australian multigenerational family with the V705I variant. Segregation analysis showed that the V705I variant did not segregate with the disease phenotype and was present in control individuals with an allele frequency of 4.4%. We, therefore, propose that the V705I variant is a polymorphism and not a disease-causing mutation as previously reported.