caa a22 4500 445808160 CHVBK 20180317145203.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00415-011-5910-7 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5910-7 Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2 [Elektronische Daten] [Donald McCorquodale III, Gladys Montenegro, Ainsley Peguero, Nicole Carlson, Fiorella Speziani, Justin Price, Sean Taylor, Michel Melanson, Jeffery Vance, Stephan Züchner] Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20-30% of all axonal CMT type 2 cases. To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, we sequenced all exons of MFN2 in a cohort of 39 CMT2 patients. We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence in the genotypic spectrum of MFN2 characterized mainly by missense mutations. Our results confirm a MFN2 mutation rate of ~15-20% in CMT2. Springer-Verlag, 2011 Charcot-Marie-Tooth disease nationallicence CMT2 nationallicence CMT2A nationallicence Mitofusin 2 nationallicence MFN2 nationallicence Inherited peripheral neuropathies nationallicence McCorquodale III Donald Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Montenegro Gladys Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Peguero Ainsley Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Carlson Nicole Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Speziani Fiorella Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Price Justin Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Taylor Sean Department of Neurology, Kingston General Hospital, Kingston, ON, Canada aut Melanson Michel Department of Neurology, Kingston General Hospital, Kingston, ON, Canada aut Vance Jeffery Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Züchner Stephan Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut Journal of Neurology Springer-Verlag 258/7(2011-07-01), 1234-1239 0340-5354 258:7<1234 2011 258 415 https://doi.org/10.1007/s00415-011-5910-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5910-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- McCorquodale III Donald Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Montenegro Gladys Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Peguero Ainsley Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Carlson Nicole Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Speziani Fiorella Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Price Justin Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Taylor Sean Department of Neurology, Kingston General Hospital, Kingston, ON, Canada aut NATIONALLICENCE 700 1- Melanson Michel Department of Neurology, Kingston General Hospital, Kingston, ON, Canada aut NATIONALLICENCE 700 1- Vance Jeffery Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 700 1- Züchner Stephan Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, 33136, Miami, FL, USA aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/7(2011-07-01), 1234-1239 0340-5354 258:7<1234 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer