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December 2018; 4 (6) ArticleOpen Access

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee
First published December 5, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000294
Nam Suk Sim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MD
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Youngsuk Seo
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MSc
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Jae Seok Lim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
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Woo Kyeong Kim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
BS
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Hyeonju Son
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
BS
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Heung Dong Kim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MD, PhD
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Sangwoo Kim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
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Hyun Joo An
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
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Hoon-Chul Kang
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MD, PhD
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Se Hoon Kim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MD, PhD
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Dong-Seok Kim
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
MD, PhD
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Jeong Ho Lee
From the Graduate School of Medical Science and Engineering (N.S.S., J.S.L., W.K.K., J.H.L.), KAIST; Asia Glycomics Reference Site (Y.S., H.J.A.); Graduate School of Analytical Science & Technology (Y.S., H.J.A.), Chungnam National University, Daejeon, Korea; Department of Biomedical System informatics (H.S., S.K.), Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine; Division of Pediatric Neurology (H.D.K., H.C.K.), Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital; Epilepsy Research Institute (H.D.K., H.C.K.), Yonsei University College of Medicine; Department of Pathology (S.H.K.), Yonsei University College of Medicine, Seoul, Korea; and Pediatric Neurosurgery (D.S.K.), Severance Children's Hospital, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea.
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Full PDF
Citation
Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation
Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee
Neurol Genet Dec 2018, 4 (6) e294; DOI: 10.1212/NXG.0000000000000294

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    Figure 1 Representative radiologic and pathologic images of patients with brain somatic mutations in SLC35A2

    (A) Preoperative and postoperative brain MRI T2-weighted images from patients EPI219 and LGS150 with brain somatic mutations in SLC25A2. These T2-weighted images demonstrate no remarkable findings in the brain parenchyma, including the temporal lobe. Yellow arrowhead: putative regions of epileptic focus. (B) Histopathologic images from H & E staining and immunohistochemical (IHC) staining from EPI219 (upper panels) and LGS150 (lower panels) brain tissues. Black arrowheads: scattered neuron in white matter. Scale bars, 40 μm in H & E staining and 200 μm in IHC staining for NeuN, a neuronal marker (C) Capture image from integrative genomic viewer (IGV) (upper panels), showing the results of site-specific amplicon sequencing. Schematic tables (lower panels) showing the number of sequence reads counted as mutated or reference sequences, as well as the VAFs of mutated alleles. Mut: mutation, Ref: reference.

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    Figure 2 Patient brain tissues with somatic mutations in SLC35A2 encoding a UDP-galactose transporter exhibiting aberrant N-glycosylation

    (A) Schematic figure showing brain somatic mutations in SLC35A2 identified in this study. Red star: locations of each identified mutation (B) Extracted compound chromatograms (ECCs) of N-glycans from brain tissues. EPI219 and LGS150: subjects carrying somatic mutations in SLC35A2. Control EPI166: patient with intractable focal epilepsy confirmed to have no specific somatic or germline mutations in deep WES. Control MET886 and MET344: specimens from the tumor-free margin of individuals with a metastatic tumor as part of a planned resection. These specimens were pathologically confirmed as normal brain tissue. The ECCs were color coded according to N-glycosylation types: blue for complex-type glycans containing galactose residues, red for truncated-type glycans, green for high mannose glycans, sky blue for hybrid-type glycans, and pink for the glycans involving high degrees of HexNAc residues. Pink round rectangle square: N-glycan structures showing high degrees of N-acetylglucosamine (HexNAc), such as Hex3HexNAc7Fuc1 and Hex3HexNAc8Fuc1 (C) Representative CID MS/MS spectrum of aberrant N-glycan Hex3HexNAc7Fuc1 in the positive ion detection mode. Almost all fragment ions were single-protonated ions [M + H]+; others are indicated as a superscript. Pink square: Hex3HexNAc7Fuc1 glycan, identified by collision-induced dissociation MS/MS, representing the ion at M/Z 1036.90.

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