PMC8155699_01
(A) Enlarged lesions in the frontal, parietal and occipital of the white matter and the corpus callosum in T2 and the diffusion weighted images were observed. Spinal MRI images showed central lesions of the upper spinal cord. (B) Two compound heterozygous missense mutations were identified in the GLRX5 gene. (C) The mutation sites of the GLRX5. (D) The difference of the noted stop codon c.196C>T[p.Q66*] of the GLRX5 protein in the three-dimensional modeling prediction.
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F1
Two point mutations of GLRX5, c.151_153 del AAG [p.K51del] (of maternal origin) and c.196C>T [p.Q66Ter] (of paternal origin), were found in the DNA of the proband (Figures 1B,C and Appendix 2). Figure 1D indicates the difference in the p.Q66Ter of the GLRX5 protein in the three-dimensional modeling prediction (https://swissmodel.expasy.org/).