シモジマ　ケイコ   Shimojima Keiko   下島　圭子    所属   医学部 医学科（東京女子医科大学病院）    職種   講師
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),pp.631-635
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