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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Fig. 1

a Pedigree of the family. The filled black symbols represent the affected members and the arrow denotes the proband. b Diffusion Weight Imaging (DWI) of MRI showed extensive white matter diffusion restriction extending to the subcortical white matter in the proband’s younger sister. White matter shows a hyper-intense signal by DWI. c-e Sequence analysis of GLDC gene separately identified the heterozygous c.2680A > G variant in the proband (c) and his mother (d), but not in his father (e). f Amino acid alignment of the P-protein from several organisms. The position of Thr894 residue (highlighted by a red box) was highly conserved among different species

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BMC Medical Genetics

ISSN: 1471-2350

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