PMC9207545_01
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MRI Axial T1/T2 MRI images at 4 years old showed mild atrophy of the frontal cortex and thinning of the corpus callosum. Myelination was complete. No structural abnormalities such as cortical dysplasia were observed.
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Brain MRI at 4 years old showed mild atrophy of the frontal cortex and thinning of the corpus callosum, but no cerebellar atrophy (Fig. 1).
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PMC9207545_05
A de novo 1.3-Mb duplication at 2q24.3 in the patient detected by WES-based programs. (A) Results of CNV analyses by XHMM and Nord's method. For the XHMM, the X axis shows the genomic position and the Y axis indicates the Z score for each target. For the Nord's method data, the X-axis shows arrays of targeted genes with different colors, with their proportional physical length, and the Y-axis shows log2 ratios for each targeted base in the genes tested. The blue thick bars represent calls for copy number gains in each method. (B) Results of qPCR analysis. The X-axis shows respective samples and the Y-axis shows the relative copy number. Target genes for qPCR are shown to the right of the bar graphs. A normal control and family members were used for the qPCR. CNV, copy number variation; Nord's method, program based on relative depth of coverage ratios developed by Nord et al.; qPCR, quantitative polymerase chain reaction; WES, whole-exome sequencing; XHMM, eXome Hidden Markov Model. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)
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Instead, a 2q24.3 microduplication that included SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A was detected in the patient (Fig. 2A). Quantitative PCR revealed an increased copy number of 1.3 Mb at 2q24.3 (Fig. 2B).