title: A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
abstract: Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARCMT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Donna-Maria
authors.initials: DM
authors.lastname: Georgiou
authors.forename: Janez
authors.initials: J
authors.lastname: Zidar
authors.forename: Marko
authors.initials: M
authors.lastname: Korosec
authors.forename: Lefkos T
authors.initials: LT
authors.lastname: Middleton
authors.forename: Theodoros
authors.initials: T
authors.lastname: Kyriakides
authors.forename: Kyproula
authors.initials: K
authors.lastname: Christodoulou
mesh_terms: D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D016900:Neurofilament Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017524:Slovenia
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L