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

doi:10.1155/2013/495873

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 language	English
Article number	495873
Pages (from-to)	1-5
Number of pages	5
Journal	Journal of neurodegenerative diseases
Volume	2013
DOIs	https://doi.org/10.1155/2013/495873
Publication status	Published - 2013
Externally published	Yes

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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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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.",

author = "Albulym, {Obaid M.} and Danqing Zhu and Reddel, {Stephen W.} and Kennerson, {Marina L} and Garth Nicholson",

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.",

year = "2013",

doi = "10.1155/2013/495873",

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T1 - The MFN2 V705I variant is not a disease-causing mutation

T2 - a segregation analysis in a CMT2 family

AU - Albulym, Obaid M.

AU - Zhu, Danqing

AU - Reddel, Stephen W.

AU - Kennerson, Marina L

AU - Nicholson, Garth

N1 - 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.

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

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

Abstract

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