title: Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
abstract: Mutations of the neurofilament-light (NEFL/NF-L) gene were examined in 124 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without known gene mutations, and 248 normal Japanese individuals. A new method, which can detect basepair mismatches with RNase cleavage on agarose gel electrophoresis, coupled with DNA sequencing, identified 8 novel sequence variations in the NF-L gene. In these sequence variants, 5 variants were polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and 3 other missense mutations (Pro22Thr, Asn97Ser and Ala148Val) were found in the patients with CMT phenotype. The variant alleles in the NF-L gene could influence the developing process of CMT phenotype and also might cause CMT phenotype.
authors.affiliation: Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Yoshihara
authors.forename: Masahiko
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Naoki
authors.initials: N
authors.lastname: Hattori
authors.forename: Ken-ichiro
authors.initials: K
authors.lastname: Misu
authors.forename: Keiko
authors.initials: K
authors.lastname: Mori
authors.forename: Haruki
authors.initials: H
authors.lastname: Koike
authors.forename: Gen
authors.initials: G
authors.lastname: Sobue
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016900:Neurofilament Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L