Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia
- 주제(키워드) AARS2 , CSF1R , Frontotemporal dementia , GRN , Next-generation sequencing
- 주제(기타) Geriatrics & Gerontology; Neurosciences
- 설명문(일반) [Kim, Eun-Joo] Pusan Natl Univ, Sch Med, Pusan Natl Univ Hosp, Dept Neurol, Busan, South Korea; [Kim, Eun-Joo] Med Res Inst, Busan, South Korea; [Kim, Young-Eun] Hanyang Univ, Coll Med, Dept Lab Med, Seoul, South Korea; [Jang, Ja-Hyun; Cho, Eun-Hae; Ki, Chang-Seok] Green Cross Genome, Yongin, Gyeonggi Do, South Korea; [Na, Duk L.; Seo, Sang Won] Sungkyunkwan Univ, Sch Med, Dept Neurol, Samsung Med Ctr, Seoul, South Korea; [Jung, Na-Yeon] Pusan Natl Univ, Yangsan Hosp, Res Inst Convergence Biomed Sci & Technol, Dept Neurol, Busan, South Korea; [Kwon, Jay C.] Ewha Womans Univ Hosp, Dept Neurol, Seoul, South Korea; [Kwon, Jay C.] Changwon Fatima Hosp, Dept Neurol, Chang Won, Gyeongsangnam D, South Korea; [Park, Kee Hyung] Gachon Univ, Gil Hosp, Dept Neurol, Incheon, South Korea; [Park, Kyung Won] Dong A Univ, Coll Med, Dong A Med Ctr, Dept Neurol, Busan, South Korea; [Lee, Jae-Hong; Roh, Jee Hoon] Univ Ulsan, Coll Med, Asan Med Ctr, Dept Neurol, Seoul, South Korea; [Kim, Hee-Jin; Kim, Seung Hyun] Hanyang Univ, Coll Med, Dept Neurol, 17 Haengdang Dong, Seoul 04763, South Korea; [Yoon, Soo Jin] Eulgi Univ Hosp, Dept Neurol, Daejeon, South Korea; [Choi, Seong Hye] Inha Univ, Sch Med, Dept Neurol, Incheon, South Korea; [Jang, Jae-Won] Kangwon Natl Univ Hosp, Dept Neurol, Chunchon, South Korea
- 등재 SCIE, SCOPUS
- 발행기관 ELSEVIER SCIENCE INC
- 발행년도 2018
- URI http://www.dcollection.net/handler/ewha/000000156159
- 본문언어 영어
- Published As http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.031
초록/요약
To identify pathogenic variants in 107 Korean patients with sporadic frontotemporal dementia (FTD), 46 genes related to FTD, amyotrophic lateral sclerosis, and other dementias were screened by next-generation sequencing. Hexanucleotide repeats in C9orf72 gene were also tested by repeat-primed polymerase chain reaction. Next-generation sequencing revealed one known pathogenic variant (c.708+1G>A) in the GRN gene in a patient with behavioral variant FTD (bvFTD). In addition, a novel inframe deletion (c.2675_2683del) in the CSF1R gene was identified in a patient with bvFTD who had severe bifrontal atrophy with frontal subcortical white matter changes. Novel compound heterozygous variants in the AARS2 gene, c.1040+1G>A and c.636G>A (p.Met212Ile), were found in a patient with bvFTD. Forty-six variants of uncertain significance were detected in other patients. None of the patients had expanded hexanucleotide repeats in C9orf72. These results show that pathogenic variants of known FTD genes are rare in Korean FTD patients but the CSF1R and AARS2 genes should be screened for a genetic diagnosis of FTD or other dementias. (C) 2018 Elsevier Inc. All rights reserved.
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