title: Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
abstract: BACKGROUND
  Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
  
  
  METHODS
  Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced.
  
  
  RESULTS
  We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c.380G>T (G127V), c.1128G>A (M376I), c.1040A>T (E347V), c.1403G>A (R468H), c.2113G>A (V705I), and c.2258_2259insT (L753fs).
  
  
  CONCLUSIONS
  We confirmed a significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum, Germany. Kathrin.Engelfried@ruhr-uni-bochum.de
authors.forename: Kathrin
authors.initials: K
authors.lastname: Engelfried
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
authors.forename: Michaela
authors.initials: M
authors.lastname: Hagedorn
authors.forename: Gerhard
authors.initials: G
authors.lastname: Haas
authors.forename: Jürgen
authors.initials: J
authors.lastname: Gilles
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Moritz
authors.initials: M
authors.lastname: Meins
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D020558:GTP Phosphohydrolases; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D009431:Neural Conduction; D017354:Point Mutation
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human