Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
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.
Yoshihara
Tsuyoshi
T
Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
Yamamoto
Masahiko
M
Hattori
Naoki
N
Misu
Ken-ichiro
K
Mori
Keiko
K
Koike
Haruki
H
Sobue
Gen
G
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
D016900:Neurofilament Proteins; C044882:neurofilament protein L