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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Fig. 1

The brain magnetic resonance image (MRI) results of the patient (a). T2-weighted image revealed symmetrical, high-signal changes in the subcortical white matter, basal ganglia, and cerebellar dentate nuclei. The lateral ventricular wall showed multiple nodular gray matter heterotopia. The right side of the cerebellar hemisphere and vermis showed dysplasia. Total ion chromatograms (TIC) and the mass spectrum of the patient (b). Results of L2HGDH mutational analysis (c). Arrows indicate mutation sites. The patient had two novel mutations, one of which was a homozygous missense mutation (c.407A > G, p.K136R). The other one was a heterozygous deletion (c.408delG, p.K136SfsX3). His father showed both the heterozygous missense mutation and the heterozygous delete mutation. His mother had the heterozygous missense mutation (c.407 A > G, p.K136R)

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