Figure 1.
Clinical and genetic findings in a 4-year-old patient with RSV-induced fever and seizures. (A) Chest x-ray at day 1 of hospital admission showing pulmonary infiltration with fluid and atelectasis of the right upper lobe. (B) Magnetic resonance scan of the brain on day 4 after admission, showing extensive diffusion restriction predominantly involving subcortical white matter with sparing of the cortex described as “bright tree appearance.” (C) Genetic information of a novel rare variant in PARK7 leading to a premature stop codon at R28, identified by WGS. ACMG, American College of Medical Genetics; GDI, gene damaging index. (D) PopViz results showing the CADD and MAF of pLOF variants in PARK7 as identified in the patient (red) and variants reported in gnomAD, including variants leading to an early stop codon (stop gained, red), missense (grey), in-frame insertions and deletions (indel, black), start loss (yellow), alterations in mRNA splicing (splice region variant, blue), and frameshift (pink). The c.82C>T variant identified in the patient is indicated in the plot. No homozygous pLOF variants in PARK7 have been reported in gnomAD. The dashed line indicates the mutation cutoff score (MSC) at 95% confidence interval (CI). (E) Family pedigree for the PARK7 variant. The patient has two brothers whose DNA was not analyzed for the variant. (F) PARK7 RNA quantification relative to housekeeping gene (TBP) in patient PBMCs compared to healthy controls by RT-PCR. (G) PARK7 immunoblot of patient (P) fibroblast lysates compared to healthy control (C). Vinculin (VCL) was used as loading control. (H) Linear protein structure of PARK7. Amino acid (aa) residues and protein domains are indicated: the N-terminal region (light blue), DJ-1/ThiJ/Pfp I domain (dark blue), and the C-terminal region (blue). The red arrow indicates the location of PARK7 R28 that is mutated into a stop codon in the patient. DWI, diffusion-weighted imaging; ADC, apparent diffusion coefficient. Statistics were calculated using the unpaired two-tailed T test with Welch’s correction (E). **P < 0.01. Source data are available for this figure: SourceData F1.

Clinical and genetic findings in a 4-year-old patient with RSV-induced fever and seizures. (A) Chest x-ray at day 1 of hospital admission showing pulmonary infiltration with fluid and atelectasis of the right upper lobe. (B) Magnetic resonance scan of the brain on day 4 after admission, showing extensive diffusion restriction predominantly involving subcortical white matter with sparing of the cortex described as “bright tree appearance.” (C) Genetic information of a novel rare variant in PARK7 leading to a premature stop codon at R28, identified by WGS. ACMG, American College of Medical Genetics; GDI, gene damaging index. (D) PopViz results showing the CADD and MAF of pLOF variants in PARK7 as identified in the patient (red) and variants reported in gnomAD, including variants leading to an early stop codon (stop gained, red), missense (grey), in-frame insertions and deletions (indel, black), start loss (yellow), alterations in mRNA splicing (splice region variant, blue), and frameshift (pink). The c.82C>T variant identified in the patient is indicated in the plot. No homozygous pLOF variants in PARK7 have been reported in gnomAD. The dashed line indicates the mutation cutoff score (MSC) at 95% confidence interval (CI). (E) Family pedigree for the PARK7 variant. The patient has two brothers whose DNA was not analyzed for the variant. (F) PARK7 RNA quantification relative to housekeeping gene (TBP) in patient PBMCs compared to healthy controls by RT-PCR. (G) PARK7 immunoblot of patient (P) fibroblast lysates compared to healthy control (C). Vinculin (VCL) was used as loading control. (H) Linear protein structure of PARK7. Amino acid (aa) residues and protein domains are indicated: the N-terminal region (light blue), DJ-1/ThiJ/Pfp I domain (dark blue), and the C-terminal region (blue). The red arrow indicates the location of PARK7 R28 that is mutated into a stop codon in the patient. DWI, diffusion-weighted imaging; ADC, apparent diffusion coefficient. Statistics were calculated using the unpaired two-tailed T test with Welch’s correction (E). **P < 0.01. Source data are available for this figure: SourceData F1.

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