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

Authors
 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 
Citation
 Neurology. Genetics, Vol.4(6) : e294, 2018 
Journal Title
 Neurology. Genetics 
Issue Date
2018
Abstract
Objective: To identify whether somatic mutations in SLC35A2 alter N-glycan structures in human brain tissues and cause nonlesional focal epilepsy (NLFE) or mild malformation of cortical development (mMCD). Methods: Deep whole exome and targeted sequencing analyses were conducted for matched brain and blood tissues from patients with intractable NLFE and patients with mMCD who are negative for mutations in mTOR pathway genes. Furthermore, tissue glyco-capture and nanoLC/mass spectrometry analysis were performed to examine N-glycosylation in affected brain tissue. Results: Six of the 31 (19.3%) study patients exhibited brain-only mutations in SLC35A2 (mostly nonsense and splicing site mutations) encoding a uridine diphosphate (UDP)-galactose transporter. Glycome analysis revealed the presence of an aberrant N-glycan series, including high degrees of N-acetylglucosamine, in brain tissues with SLC35A2 mutations. Conclusion: Our study suggests that brain somatic mutations in SLC35A2 cause intractable focal epilepsy with NLFE or mMCD via aberrant N-glycosylation in the affected brain.
DOI
10.1212/NXG.0000000000000294
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
강훈철(Kang, Hoon Chul) ORCID logo https://orcid.org/0000-0002-3659-8847
김동석(Kim, Dong Seok)
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
김흥동(Kim, Heung Dong) ORCID logo https://orcid.org/0000-0002-8031-7336
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/167186
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