新型复合杂合性LIAS突变导致甘氨酸脑病。
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
作者信息
Tsurusaki Yoshinori, Tanaka Ryuta, Shimada Shino, Shimojima Keiko, Shiina Masaaki, Nakashima Mitsuko, Saitsu Hirotomo, Miyake Noriko, Ogata Kazuhiro, Yamamoto Toshiyuki, Matsumoto Naomichi
机构信息
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Department of Child Health, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
出版信息
J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25.
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.
甘氨酸脑病（GCE）是一种由甘氨酸裂解复合物缺陷引起的罕见常染色体隐性疾病。在此，我们报告一名患有GCE且血清和脑脊液中甘氨酸水平均升高的患者。基于三联体的全外显子组测序在LIAS基因中鉴定出新型复合杂合突变（c.738-2A>G和c.929T>C（p.Met310Thr））。迄今为止，LIAS基因已报告了三个纯合突变。所有先前报告的GCE患者也显示出血清甘氨酸水平升高。我们的数据进一步支持LIAS基因突变是GCE的遗传病因。
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