The MFN2 V705I variant is not a disease-causing mutation: a segregation analysis in a CMT2 family

Obaid M. Albulym, Danqing Zhu, Stephen W. Reddel, Marina L Kennerson, Garth Nicholson

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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.

Original languageEnglish
Article number495873
Pages (from-to)1-5
Number of pages5
JournalJournal of neurodegenerative diseases
Volume2013
DOIs
Publication statusPublished - 2013
Externally publishedYes

Bibliographical note

Copyright the Author(s) 2013. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

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