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J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25.

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Author information

1
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
2
Department of Child Health, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
3
Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
4
Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Abstract

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.

PMID:
26108146
DOI:
10.1038/jhg.2015.72
[Indexed for MEDLINE]

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