Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Yoshinori TsurusakiRyuta TanakaShino ShimadaKeiko ShimojimaMasaaki ShiinaMitsuko NakashimaHirotomo SaitsuNoriko MiyakeKazuhiro OgataToshiyuki YamamotoNaomichi MatsumotoPublished in: Journal of human genetics (2015)
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.
Keyphrases
- early onset
- cerebrospinal fluid
- end stage renal disease
- newly diagnosed
- chronic kidney disease
- ejection fraction
- prognostic factors
- case report
- peritoneal dialysis
- genome wide
- tyrosine kinase
- autism spectrum disorder
- machine learning
- patient reported outcomes
- copy number
- transcription factor
- muscular dystrophy
- data analysis