PMC9490368_01
PMC9490368_02
Curves of standard deviations (SD) during the growth of head circumference (A), weight (B), and length (C) for the proband. The color curves were the referenced growth curves for Chinese girls, and the black triangles were the growth status of the proband at different ages.
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F1
The growth curves of head circumference, weight and length for the proband are shown in Figure 1.
Axial (A), sagittal (B), and coronal (C) brain magnetic resonance images of the proband.
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F2
The brain magnetic resonance imaging (MRI) presented with cerebellar hypoplasia and bilateral enlarged brain ventricles (Figure 2).
Identification of the novel CASK mutation. (A) results of Sanger sequencing. The proband was heterozygous status with c.755T>C mutation, but her parents were wild-type status. (B) functional domains of CASK. p.Leu252Pro mutation was in the CaMK domain of CASK. (C) conservation of the p.Leu252Pro mutation site in different species.
fgene-13-856636-g003.jpg
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F3
A novel heterozygote nonsynonymous mutation, NM_003688.3:exon8:c.755T>C:p.Leu252Pro in the CASK gene (gene position: chrX: 41660515) was identified in the proband (Figure 3), and the amino acid changed from leucine to proline.