PMC9556843_01
Electroencephalography (EEG) and Cranial magnetic resonance imaging (MRI) result of proband with mosaic mutation in PCDH19 gene (c.840C>A, p. Tyr280*). (A) The analysis of electroencephalography (EEG) exhibited that sharp waves and sharp slow complex waves in the bilateral parietal, occipital, and posterior temporal regions were distributed locally with normal background during the interictal period. (B-D) Punctate white matter lesions appeared with slightly long T1 and T2 signals, as well as slightly high signal on FLAIR in the periventricular white matter and slightly plump bilateral ventricles.
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F1
The analysis of electroencephalography (EEG) exhibited that sharp waves and sharp slow complex waves in the bilateral parietal, occipital, and posterior temporal regions were distributed locally with normal background during the interictal period (see Figure 1A). By cranial magnetic resonance imaging (MRI), punctate white matter lesions appeared with slightly long T1 and T2 signals, and slightly high signals on fluid-attenuated inversion recovery (FLAIR) in the periventricular white matter and slightly plump bilateral ventricles (see Figures 1B-D).
The novel de novo mosaic mutation in PCDH19 gene in proband confirmed by Sanger sequence. The variant was identified in proband but absent in parents. The proportion of mosaic mutation (c.840C>A, p. Tyr280*) in PCDH19 gene was 27.9% in, buccal mucosal cells, 48.3% in exfoliated cells in urine and 42.4% in peripheral blood of proband.
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F2
The heterozygous variant was confirmed by the Sanger sequence (see Figure 2).