Deep sequencing reveals <i>SLC35A2</i> somatic variants in MOGHE: molecular and clinical insights

Huaxia Luo; Xiaoqin Ruan; Xianyu Liu; Qingzhu Liu; Yu Sun; Yao Wang; Jixin Zhang; Lixin Cai; Yuwu Jiang; Ye Wu

doi:10.1016/j.jgg.2025.04.002

Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

doi: 10.1016/j.jgg.2025.04.002

1. Children's Medical Center, Peking University First Hospital, Beijing 102627, China;
2. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China;
3. Department of Pathology, Peking University First Hospital, Beijing 102627, China;
4. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China;
5. Children's Medical Center, Peking University First Hospital, Beijing 102627, China;
6. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China

基金项目:

Development Foundation (YCXJ-JZ-2023-017), the National Natural Science Foundation of China (82171694, 81901155), National High Level Hospital Clinical Research Funding (High Quality Clinical Research Project of Peking University First Hospital) (23cz020202), National High Level Hospital Clinical Research Funding (Youth Clinical Research Project of Peking University First Hospital) (2023YC19), and National High Level Hospital Clinical Research Funding (Scientific Research Seed Fund of Peking University First Hospital) (2023SF42). The sponsors did not have any role in the study design, the collection, analysis, and interpretation of data, the writing of the report, or the decision to submit the work for publication.

We thank the participants for contributing their samples for our study. We also acknowledge the support from the High-performance Computing Platform of Peking University.This study received support from the following grants: the Natural Science Foundation of Beijing Municipality (7242149, L202034, 7244416), the E-Town Cooperation &

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通讯作者:
Ye Wu,E-mail:dryewu@bjmu.edu.cn

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- 收稿日期: 2025-02-17
- 录用日期: 2025-04-03
- 修回日期: 2025-04-02
- 刊出日期: 2025-04-10

Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

1. Children's Medical Center, Peking University First Hospital, Beijing 102627, China;
2. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China;
3. Department of Pathology, Peking University First Hospital, Beijing 102627, China;
4. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China;
5. Children's Medical Center, Peking University First Hospital, Beijing 102627, China;
6. Pediatric Epilepsy Center, Peking University First Hospital, Beijing 102627, China

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参考文献(11)

Barba, C., Blumcke, I., Winawer, M.R., Hartlieb, T., Kang, H.-C., Grisotto, L., Chipaux, M., Bien, C.G., Hermanovska, B., Porter, B.E., et al. 2023. Clinical features, neuropathology, and surgical outcome in patients with refractory epilepsy and brain somatic variants in the SLC35A2 Gene. Neurology 100, e528-e542.

Bonduelle, T., Hartlieb, T., Baldassari, S., Sim, N.S., Kim, S.H., Kang, H.-C., Kobow, K., Coras, R., Chipaux, M., Dorfmuller, G., Adle-Biassette, et al. 2021. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol. Commun. 9, 3.

Green, P.M., Montandon, A.J., Bentley, D.R., Ljung, R., Nilsson, I.M., Giannelli, F., 1990. The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res. 18, 3227-3231.

Guerrini, R., 2006. Epilepsy in children. Lancet 367, 499-524.

Guerrini, R., Dobyns, W.B., 2014. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 13, 710-726.

Liu, Xianyu, Tang, Q., Xia, X., Liu, Q., Liu, J., Jin, Y., Wu, P., Luo, H., Gao, K., Ruan, X., Sun, Y.,et al. 2025. Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol. 149, 13.

Najm, I., Lal, D., Alonso Vanegas, M., Cendes, F., Lopes-Cendes, I., Palmini, A., Paglioli, E., Sarnat, H.B., Walsh, C.A., Wiebe, S., Aronica, E., et al. 2022. The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 63, 1899-1919.

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., et al. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-423.

Schurr, J., Coras, R., Rossler, K., Pieper, T., Kudernatsch, M., Holthausen, H., Winkler, P., Woermann, F., Bien, C.G., Polster, T., et al. 2017. Mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy: a new clinico-pathological entity. Brain Pathol. 27, 26-35.

Severino, M., Geraldo, A.F., Utz, N., Tortora, D., Pogledic, I., Klonowski, W., Triulzi, F., Arrigoni, F., Mankad, K., Leventer, R.J., et al. 2020. Definitions and classification of malformations of cortical development: practical guidelines. Brain 143, 2874-2894.

Xu, S., Xu, J., Chen, C., Ye, L., Wang, S., Miao, P., Zhu, J., 2023. Multifocal mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) associated with SLC35A2 brain mosaicism. Clin. Neurophysiol 145, 22-25.

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Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

doi: 10.1016/j.jgg.2025.04.002

通讯作者:
Ye Wu,E-mail:dryewu@bjmu.edu.cn

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Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

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Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

doi: 10.1016/j.jgg.2025.04.002

通讯作者: Ye Wu,E-mail:dryewu@bjmu.edu.cn

计量

出版历程

Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights

计量

出版历程

目录

通讯作者:
Ye Wu,E-mail:dryewu@bjmu.edu.cn