title: Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.
abstract: Mutations in the UBQLN2 and SIGMAR1 genes were recently identified in X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS and/or FTD) and FTD and/or motor neuron disease, respectively. Subsequent studies, however, found that UBQLN2 mutations were rare, and the pathogenicity of SIGMAR1 mutation in FTD and/or motor neuron disease was controversial. In the present study, we analyzed mutations in the UBQLN2 and SIGMAR1 genes in a Korean cohort of 258 patients with familial ALS (n = 9) or sporadic (sALS; n = 258) ALS. One novel UBQLN2 variant (p.D314E) was observed in 2 patients with sALS and 5 of 727 controls indicating that this variant might be a rare polymorphism rather than a disease-causing mutation. A novel SIGMAR1 gene variant in the 3'-untranslated region (c.*58T>C) was found in 1 sALS and was absent in 727 control samples. Taken together, our data suggest that causative mutations in the UBQLN2 and SIGMAR1 genes are rare in Korean patients with either familial or sporadic ALS.
authors.affiliation: Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee-Jung
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.affiliation: Department of Neurology, Hanyang University College of Medicine, Seoul, Korea; Cell Therapy Center, Hanyang University Hospital, Seoul, Korea.
authors.forename: Won-Jun
authors.initials: WJ
authors.lastname: Choi
authors.affiliation: Department of Neurology, Hanyang University College of Medicine, Seoul, Korea; Cell Therapy Center, Hanyang University Hospital, Seoul, Korea.
authors.forename: Ki-Wook
authors.initials: KW
authors.lastname: Oh
authors.affiliation: Department of Neurology, Hanyang University College of Medicine, Seoul, Korea; Cell Therapy Center, Hanyang University Hospital, Seoul, Korea.
authors.forename: Seong-Il
authors.initials: SI
authors.lastname: Oh
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Electronic address: changski@skku.edu.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Neurology, Hanyang University College of Medicine, Seoul, Korea; Cell Therapy Center, Hanyang University Hospital, Seoul, Korea. Electronic address: kimsh1@hanyang.ac.kr.
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D048868:Adaptor Proteins, Signal Transducing; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D015331:Cohort Studies; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D017480:Receptors, sigma / Q000235:genetics*; D014452:Ubiquitins / Q000235:genetics*; D000097605:Sigma-1 Receptor
chemical_list: D020413:3' Untranslated Regions; D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins; D017480:Receptors, sigma; D014452:Ubiquitins; D000097605:Sigma-1 Receptor; C405662:UBQLN2 protein, human
keywords: Amyotrophic lateral sclerosis; Korean; Mutations; SIGMAR1; UBQLN2