|
Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
|
| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Novel compound heterozygous LIAS mutations cause glycine encephalopathy. |
| Journal | Formal name：Journal of human genetics Abbreviation：J Hum Genet ISSN code：(1435-232X)1434-5161(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 60(10),pp.631-635 |
| Author and coauthor | Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Nakashima M, Saitsu H, Miyake N, Yamamoto T, Matsumoto N |
| Publication date | 2015/10 |
| Summary | 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 |