Access

Brief Communication

Nature Genetics 36, 449–451 (1 May 2004) | doi:10.1038/ng1341

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Z|[uuml]|chner , Irina V Mersiyanova , Maria Muglia , Nisrine Bissar-Tadmouri , Julie Rochelle , Elena L Dadali , Mario Zappia , Eva Nelis , Alessandra Patitucci , Jan Senderek , Yesim Parman , Oleg Evgrafov , Peter De Jonghe , Yuji Takahashi , Shoij Tsuji , Margaret A Pericak-Vance , Aldo Quattrone , Esra Battologlu , Alexander V Polyakov , Vincent Timmerman , J Michael Schr|[ouml]|der & Jeffery M Vance

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.