PMC7490291_01
Clinical photographs of the proband showed microcephaly without craniofrontonasal dysmorphism at age of 4 months (A,B) and at age of 2 years (C,D). Skull X-ray of the proband revealed no craniosynostosis (E-H).
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F1
Physical examination demonstrated a well-nourished girl with microcephaly at age of 2 years and without CFN dysplasia (Figures 1A-D). Skull X-ray revealed no gross abnormality in cranial vault and no craniosynostosis (Figures 1E-H). Her ears, feet, and hands were normal in shape and size (Supplementary Figure 1). Skeletal surveillance including spine, both hands, and foot was done, and results were normal (Supplementary Figure 1).
(A) Sanger sequencing confirmed this heterozygous c.943C>T (p.Pro315Ser) in the EFNB1 occurring in a dominant de novo manner, as a consequence of phenotypic and genotypic wild type in both parents. (B) Sequence alignment of the conserved cytoplasmic domain of the EFNB1 protein in multiple species. Protein sequence of the Pro315Ser residue is highly conserved across species compared. It is highlighted in the red box.
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F2
Brain magnetic resonance imaging revealed schizencephaly and dysgenesis of corpus callosum (Supplementary Figure 2). Electroencephalography (EEG) observed continuous high-amplitude spikes and slow waves on both temporoparietal areas (Supplementary Figure 2).