Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Eun Joo Kim; Jay C. Kwon; Kee Hyung Park; Kyung Won Park; Jae Hong Lee; Seong Hye Choi; Jee H. Jeong; Byeong C. Kim; Soo Jin Yoon; Young Chul Yoon; Sang Yun Kim; Key Chung Park; Byung Ok Choi; Duk L. Na; Chang Seok Ki; Seung Hyun Kim

doi:10.1016/j.neurobiolaging.2013.11.033

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Eun Joo Kim, Jay C. Kwon, Kee Hyung Park, Kyung Won Park, Jae Hong Lee, Seong Hye Choi, Jee H. Jeong, Byeong C. Kim, Soo Jin Yoon, Young Chul Yoon, Sang Yun Kim, Key Chung Park, Byung Ok Choi, Duk L. Na, Chang Seok Ki, Seung Hyun Kim

Department of Neurology

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

Abstract

The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.

Original language	English
Pages (from-to)	1213.e13-1213.e17
Journal	Neurobiology of Aging
Volume	35
Issue number	5
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.11.033
State	Published - May 2014

Bibliographical note

Funding Information:
This study was supported by a grant of the Korea Healthcare Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( HI10C2020 ), and a grant of the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( A120182 ).

Keywords

C9orf72
Frontotemporal dementia
GRN
Korean
MAPT
Mutation

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10.1016/j.neurobiolaging.2013.11.033

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Kim, E. J., Kwon, J. C., Park, K. H., Park, K. W., Lee, J. H., Choi, S. H., Jeong, J. H., Kim, B. C., Yoon, S. J., Yoon, Y. C., Kim, S. Y., Park, K. C., Choi, B. O., Na, D. L., Ki, C. S., & Kim, S. H. (2014). Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of Aging, 35(5), 1213.e13-1213.e17. https://doi.org/10.1016/j.neurobiolaging.2013.11.033

@article{74e432f3c52e48f2a25d43a2c8cd202f,

title = "Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia",

abstract = "The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.",

keywords = "C9orf72, Frontotemporal dementia, GRN, Korean, MAPT, Mutation",

author = "Kim, {Eun Joo} and Kwon, {Jay C.} and Park, {Kee Hyung} and Park, {Kyung Won} and Lee, {Jae Hong} and Choi, {Seong Hye} and Jeong, {Jee H.} and Kim, {Byeong C.} and Yoon, {Soo Jin} and Yoon, {Young Chul} and Kim, {Sang Yun} and Park, {Key Chung} and Choi, {Byung Ok} and Na, {Duk L.} and Ki, {Chang Seok} and Kim, {Seung Hyun}",

note = "Funding Information: This study was supported by a grant of the Korea Healthcare Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( HI10C2020 ), and a grant of the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( A120182 ).",

year = "2014",

month = may,

doi = "10.1016/j.neurobiolaging.2013.11.033",

language = "English",

volume = "35",

pages = "1213.e13--1213.e17",

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Kim, EJ, Kwon, JC, Park, KH, Park, KW, Lee, JH, Choi, SH, Jeong, JH, Kim, BC, Yoon, SJ, Yoon, YC, Kim, SY, Park, KC, Choi, BO, Na, DL, Ki, CS & Kim, SH 2014, 'Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia', Neurobiology of Aging, vol. 35, no. 5, pp. 1213.e13-1213.e17. https://doi.org/10.1016/j.neurobiolaging.2013.11.033

TY - JOUR

T1 - Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

AU - Kim, Eun Joo

AU - Kwon, Jay C.

AU - Park, Kee Hyung

AU - Park, Kyung Won

AU - Lee, Jae Hong

AU - Choi, Seong Hye

AU - Jeong, Jee H.

AU - Kim, Byeong C.

AU - Yoon, Soo Jin

AU - Yoon, Young Chul

AU - Kim, Sang Yun

AU - Park, Key Chung

AU - Choi, Byung Ok

AU - Na, Duk L.

AU - Ki, Chang Seok

AU - Kim, Seung Hyun

N1 - Funding Information: This study was supported by a grant of the Korea Healthcare Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( HI10C2020 ), and a grant of the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea ( A120182 ).

PY - 2014/5

Y1 - 2014/5

N2 - The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.

AB - The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.

KW - C9orf72

KW - Frontotemporal dementia

KW - GRN

KW - Korean

KW - MAPT

KW - Mutation

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U2 - 10.1016/j.neurobiolaging.2013.11.033

DO - 10.1016/j.neurobiolaging.2013.11.033

M3 - Article

C2 - 24387985

AN - SCOPUS:84893740090

SN - 0197-4580

VL - 35

SP - 1213.e13-1213.e17

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 5

ER -

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Abstract

Bibliographical note

Keywords

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