case_images: PMC10704354_01
case_images: PMC10704354_02
case_images: One 3D model of the SAND domain in this study based on the homology study of the solution structure of the human Sp100b SAND domain by heteronuclear NMR (PDBe 1h5p). The amino acid substitution is in green.
case_images: fneur-14-1251467-g001.jpg
case_images: PMC10704354_02_fneur-14-1251467-g001.jpg
case_images: fig1
case_images: Based on the homology study of the solution structure of the human Sp100b and the SAND domain by heteronuclear NMR (PDBe 1h5p), the PDB structure of the SAND domain was modeled by phyre2 server software and modified by UCSF chimera software (Figure 1).
case_images: Sanger sequencing showing a heterozygous variant in DEAF1: the patient has a heterozygous pathogenic variant c.782G>C in exon 5, which is not present in either of the parents, suggesting the de novo occurrence of the variation.
case_images: fneur-14-1251467-g002.jpg
case_images: PMC10704354_02_fneur-14-1251467-g002.jpg
case_images: fig2
case_images: Arg261Pro) in the fifth exon of DEAF1 gene, which was confirmed by Sanger sequencing (Figure 2).