PMC9582536_01
Clinical features and sequence analysis. (A) Brain MR images. Abnormal signals of the cornu occipitale. (a) T1WI hypodensities and the smaller right brain volume; (b) T2WI hyperintensity and the widening of the extracerebral space; (c) increased FLAIR signals; (d) right-skewed midfacial hypoplasia. (B) Pedigree of the family and Sanger sequencing analysis. (C) CT images with 3D reconstruction. (a-b) Frontal seam and right coronal seam, (c) right apex seam, (d) left apex seam. The abnormal seam fusions are indicated by the red arrow, and the normal seam is indicated by the black arrow.
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F1
He was observed with plagiocephaly, his birth head circumference is 33.2 cm (-0.99 SD) (Supplementary Figure 1). Brain MRI at the age of 13 months showed widening of the extracerebral interval, dysmyelination of the bilateral periventricular white matter, abnormal signals of the cornu occipitale and a reduced right-brain cerebral volume (Figure 1A and Table 1). Skull radiographs and three-dimensional computed tomography (3D-CT) showed craniosynostosis of the frontal and right-coronal suture fusion, and skull asymmetry was observed, with the eye axis deviating to the right side (Figures 1A,C).
The pathogenic variant of BCL11B and the in silico prediction results. (A) The localization of variants reported in the literature and the variant in our patient. The variant in bold red font is that of the patient in this report. (B) Structures of BCL11BWT analyzed by the AlphaFold network and BCL11BG783Afs*24 predicted by SWISS-MODEL. The ZnF1-ZnF6 domains are marked in the corresponding colors of the schematic representations. (C) Sequence alignment across species with amino acid residues was performed, and our patient's mutated sequence is shown in bold red font.
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F2
His immunophenotyping analysis results are shown in Supplementary Table 1 and Supplementary Figure 2.