PMC9160522_01
The whole exon sequence of C.580C>T in this child patient and his parents.
fgene-12-788702-g001.jpg
PMC9160522_01_fgene-12-788702-g001.jpg
F1
Magnetic resonance imaging (MRI) of the cervical, thoracic, and lumbar spine exhibited no obvious abnormalities (Supplementary Figure S1A). During the sleep period, multifocal spikes and spike-wave activity were observed, and no abnormal discharge in the parental identification event existed (Supplementary Figure S1B). The results indicated that the child carried two novel compound heterozygous variations in the ADPRS gene: c.580C>T (Figure 1) and c.803-1G>A (Figure 2) inherited from his parents (Table 1).
The whole exon sequence of C.803-1G>A in this child patient and his parents.
fgene-12-788702-g002.jpg
PMC9160522_01_fgene-12-788702-g002.jpg
F2
Brain MRI was performed again, and showed slightly wider sulci on the cerebellar surface (Supplementary Figure S2). The results indicated that the child carried two novel compound heterozygous variations in the ADPRS gene: c.580C>T (Figure 1) and c.803-1G>A (Figure 2) inherited from his parents (Table 1).