title: Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.
abstract: The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Ja-Hyun
authors.initials: JH
authors.lastname: Jang
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.forename: Won Jun
authors.initials: WJ
authors.lastname: Choi
authors.forename: Ki-Wook
authors.initials: KW
authors.lastname: Oh
authors.forename: Seong-Ho
authors.initials: SH
authors.lastname: Koh
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D005819:Genetic Markers; D011506:Proteins