Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Journal of human genetics - 1 Oct 2015
Tsurusaki Yoshinori, Tanaka Ryuta, Shimada Shino, Shimojima Keiko, Shiina Masaaki, Nakashima Mitsuko, Saitsu Hirotomo, Miyake Noriko, Ogata Kazuhiro, Yamamoto Toshiyuki, Matsumoto Naomichi
Abstract excerpt
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...
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