PMC9194527_01
No abnormalities in the patient's brain MRI and magnetic resonance angiography (MRA). (A) Axial T1-weighted images (T1WI); (B) Axial T2-weighted images (T2WI); (C) Axial T2 fluid attenuated inversion recovery sequence images (Flair); (D) Diffusion-weighted imaging (DWI); (E) Magnetic resonance angiography (MRA) images.
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F1
Spinal cord and brain MRI and magnetic resonance angiography (MRA) showed no abnormalities (Figure 1).
Identification of a de novo heterozygous variant of c.2998A>G in TRPM7 gene. (A) Pedigree chart in this family. (B) The schematic diagram of TRPM7 protein molecular structure, the purple star indicates the variant is located in the fifth transmembrane segment. (C-E) Patient with c.2998A>G variant, his parents with normal genotype.
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F2
The pedigree chart in this family was shown in Figure 2A. This site is a de novo variant that is not inherited from his parents after Sanger sequencing verification (Figures 2C-E); it was also a novel variant, which is absent in gnomAD, 1,000 genomes, and ExAC databases. The functional prediction of this site was performed by Mutation Taster and sorting intolerant from tolerant (SIFT), it was predicted to be a deleterious variant. This site is located in the fifth transmembrane segment (Figure 2B), and the substitution of methionine (MET) to valine (VAL) results in increased hydrophobicity of amino acids.
Three-dimensional structure prediction model of TRPM7 protein by SWISS-MODEL and Swiss-Pdb Viewer. (A) Amino acid side chain structure of the wild type (Met1000); (B) Amino acid side chain structure of the mutant type (Val1000). The pink dotted line indicates that the wild type may collide with the adjacent benzene ring (Phe1096), and there is no collision after mutation, the green dotted line indicates the hydrogen bond.
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F3
The three-dimensional structural prediction model predicted that the side chain structure of TRPM7 was changed, performed by SWISS-MODEL and Swiss-Pdb Viewer (Figure 3).
PMC9194527_02
A timeline with relevant data from the patient episode of care.
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F4
The timeline with relevant data from the patient episode of care was shown in Figure 4.