Abstract
We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-β (KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1B in these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2.
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Acknowledgements
We thank the affected individuals and their families who participated in these studies for their cooperation. S.Z. received a grant from the Deutsche Forschungsgemeinschaft. E.N. is a postdoctoral fellow of the Fund for Scientific Research. This work was further supported by the Deutsche Forschungsgemeinschaft (J.M.S.), the US National Institutes of Health (M.A.P.-V. and J.M.V.), the University of Antwerp, the Fund for Scientific Research and the Belgian Federal Office for Scientific, Technological and Cultural Affaires (V.T. and P.D.J.).
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Züchner, S., Mersiyanova, I., Muglia, M. et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36, 449–451 (2004). https://doi.org/10.1038/ng1341
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DOI: https://doi.org/10.1038/ng1341
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