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Novel compound heterozygous LIAS mutations cause glycine encephalopathy
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نویسنده
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Tsurusaki Yoshinori ,Tanaka Ryuta ,Shimada Shino ,Shimojima Keiko ,Shiina Masaaki ,Nakashima Mitsuko ,Saitsu Hirotomo ,Miyake Noriko ,Ogata Kazuhiro ,Yamamoto Toshiyuki ,Matsumoto Naomichi
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منبع
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journal of human genetics - 2015 - دوره : 60 - شماره : 10 - صفحه:631 -635
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چکیده
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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.
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آدرس
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Yokohama City University Graduate School of Medicine, Department of Human Genetics, Japan, University of Tsukuba, Department of Child Health, Japan, Tokyo Women’s Medical University, Japan, Tokyo Women’s Medical University, Japan, Yokohama City University Graduate School of Medicine, Department of Biochemistry, Japan, Yokohama City University Graduate School of Medicine, Department of Human Genetics, Japan, Yokohama City University Graduate School of Medicine, Department of Human Genetics, Japan, Yokohama City University Graduate School of Medicine, Department of Human Genetics, Japan, Yokohama City University Graduate School of Medicine, Department of Biochemistry, Japan, Tokyo Women’s Medical University, Japan, Yokohama City University Graduate School of Medicine, Department of Human Genetics, Japan
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Authors
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