title: The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C.
abstract: Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33. Recently, a missense mutation in the gene for the kinesin superfamily KIF1B was reported as the cause of Charcot Marie Tooth disease type 2A (CMT2A). We suspected that Rab6KIFL, one of the kinesin superfamily proteins, might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene is located in 5q31. The coding regions of the Rab6KIFL gene of genomic DNA derived from one Algerian family with CMT4C were analyzed by direct sequencing. No mutation in Rab6KIFL gene was found in this family. Further investigation is necessary to identify the causative gene for CMT4C.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Nagura
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Nagao
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
authors.forename: Eric
authors.initials: E
authors.lastname: LeGuern
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D017931:DNA Primers; C410089:KIF20A protein, human; D016547:Kinesins