Novel compound heterozygous LIAS mutations cause glycine encephalopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-06-25

AUTHORS

Yoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, Keiko Shimojima, Masaaki Shiina, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Kazuhiro Ogata, Toshiyuki Yamamoto, Naomichi Matsumoto

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. More... »

PAGES

631-635

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2015.72

DOI

http://dx.doi.org/10.1038/jhg.2015.72

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046000518

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26108146


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