title: The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.
abstract: 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.
authors: Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia.
authors: Obaid M
authors: OM
authors: Albulym
authors: Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
authors: Danqing
authors: D
authors: Zhu
authors: Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
authors: Stephen
authors: S
authors: Reddel
authors: Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
authors: Marina
authors: M
authors: Kennerson
authors: Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.
authors: Garth
authors: G
authors: Nicholson