シマダ シノ
  島田 姿野
   所属   医学部 医学科(東京女子医科大学病院)
   職種   助教
論文種別 症例報告
言語種別 英語
査読の有無 査読あり
表題 Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
掲載誌名 正式名:Journal of human genetics
略  称:J Hum Genet
ISSNコード:(1435-232X)1434-5161(Linking)
掲載区分国外
巻・号・頁 60(10),631-635頁
著者・共著者 Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Nakashima M, Saitsu H, Miyake N, Yamamoto T, Matsumoto N
発行年月 2015/10
概要 Glycine encephalopathy (GCE) is a rare autosomal recessive disorder caused by defects in the glycine cleavage complex. Here we report a patient with GCE and elevated level of glycine in both the serum and the cerebrospinal fluid. Trio-based whole-exome sequencing identified novel compound heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS. To date, three homozygous mutations have been reported in LIAS. All previously reported GCE patients also show elevated level of serum glycine. Our data further supports LIAS mutations as a genetic cause for GCE.
DOI 10.1038/jhg.2015.72
PMID 26108146