PMC8826681_01
Case timeline. EEG, electroencephalogram; MRI, magnetic resonance imaging; VEEG, video electroencephalogram; EMG, electromyography.
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F1
A 2-year-old girl was referred to the Department of Developmental and Behavioral Pediatrics due to severe global development delay and insomnia (case timeline presented in Figure 1).
Brain magnetic resonance imaging (MRI): (A) sagittal, (B) coronal, and (C) OAx planes.
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F2
The second brain MRI at 16 months revealed that the corpus callosum was slightly thin, and the lateral ventricle was plump, and we observed high-plaque signal intensity in the left frontal lobe (Figure 2).
Genetic testing of the patient and analysis of aberrant splicing. (A) Schematic diagram of primer design. (B) Schematic diagram of expected polymerase chain reaction (PCR) product. (C) Electrophoretogram of PCR product from the patient's and control's blood samples. (D) Sequence of aberrant splicing product with intron 5 retention (red arrow indicates the mutation site).
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F3
We designed the PCR primers as follows: F, 5'-ATCACTGCAGGTTTTGAGCC-3'; R, 5'-ACGCAGACAATGACAACCAC-3'; amplification produced an abnormal cDNA fragment, proving the presence of an alternative splice product with retention of the fifth intron (Figure 3).