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Neurology Genetics
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December 2021; 7 (6) Clinical/Scientific NotesOpen Access

Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

View ORCID ProfileChul-Hoo Kang, View ORCID ProfileYoung Mee Kim, View ORCID ProfileYang-Ji Kim, View ORCID ProfileSu-Jeong Hong, View ORCID ProfileDo Yoon Kim, View ORCID ProfileHyun Goo Woo, View ORCID ProfileYoung Ree Kim, View ORCID ProfileJoong-Goo Kim, View ORCID ProfileJung Seok Lee, View ORCID ProfileMi Hee Kong, View ORCID ProfileHyeon Ju Kim, View ORCID ProfileJay Chol Choi
First published December 6, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000639
Chul-Hoo Kang
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • ORCID record for Chul-Hoo Kang
  • For correspondence: chulhookang@gmail.com
Young Mee Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: ymeekim3118@gmail.com
Yang-Ji Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: yamdi427@gmail.com
Su-Jeong Hong
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: ghdtnwjd.91@gmail.com
Do Yoon Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: kdy1249@ajou.ac.kr
Hyun Goo Woo
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: hg@ajou.ac.kr
Young Ree Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: namu8790@jejunu.ac.kr
Joong-Goo Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: lilis1118@naver.com
Jung Seok Lee
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: nrlee71@naver.com
Mi Hee Kong
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: kongmihee@jejunu.ac.kr
Hyeon Ju Kim
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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  • For correspondence: fmhjukim@hanmail.net
Jay Chol Choi
From the Department of Neurology (C.-H.K., J.-G.K., J.S.L., J.C.C.), Jeju National University Hospital, Jeju National University School of Medicine; Department of Biochemistry (Y.M.K.), School of Medicine; Institute of Medical Science (Y.-J.K., S.-J.H., J.C.C.), Jeju National University, Korea; Department of Physiology (D.Y.K., H.G.W.), School of Medicine; Department of Biomedical Science (D.Y.K., H.G.W.), Graduate School, Ajou University, Suwon, Republic of Korea; Department of Laboratory Medicine (Y.R.K.), School of Medicine, Jeju National University; Department of Family Medicine (M.H.K., H.J.K.), Jeju National University Hospital; and Department of Family Medicine (M.H.K., H.J.K.), School of Medicine, Jeju National University, Korea.
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Full PDF
Citation
Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population
Chul-Hoo Kang, Young Mee Kim, Yang-Ji Kim, Su-Jeong Hong, Do Yoon Kim, Hyun Goo Woo, Young Ree Kim, Joong-Goo Kim, Jung Seok Lee, Mi Hee Kong, Hyeon Ju Kim, Jay Chol Choi
Neurol Genet Dec 2021, 7 (6) e639; DOI: 10.1212/NXG.0000000000000639

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    Figure Brain MRI of the 2 Individuals With p.Arg544Cys Variants

    Patient 2 is a 58-year-old man who had had an abrupt onset of mild dysarthria at age 54 years. Diffusion MRI at that time showed a small subacute infarction on the left frontal white matter (arrow) and multiple small white matter hyperintensity lesions on fluid attenuated inversion recovery images. Patient 3 is a 50-year-old man and received a brain MRI examination as a screening health checkup and had a few small subcortical white matter hyperintensity lesions and periventricular white matter lesions.

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