case_images: PMC11794251_01
case_images: (A) Axial T2-weighted image of the proband at 10 months shows marked brain atrophy, particularly in the white matter. (B) Axial T1-weighted image of the proband at 10 months displays delayed myelination. (C) Sagittal T1-weighted image of the proband at 10 months demonstrates thinning of the corpus callosum. (D) At the follow-up examination at two years of age, the proband exhibited mild facial dysmorphism characterized by downward slanting palpebral fissures, hypertelorism, esotropia, and a tented upper lip vermilion.
case_images: fped-12-1488095-g001.jpg
case_images: PMC11794251_01_fped-12-1488095-g001.jpg
case_images: F1
case_images: Brain MRI revealed marked brain atrophy, especially in the white matter, thinning of the corpus callosum, and delayed myelination (Figures 1A-C).
case_images: Sanger sequencing identified the hemizygous pathogenic variant (c.247C>T, p.Gln83Ter) in BCAP31 in the male proband (arrow), and the variant was also found heterozygously in the mother and twin sister, who had a milder phenotype.
case_images: fped-12-1488095-g002.jpg
case_images: PMC11794251_01_fped-12-1488095-g002.jpg
case_images: F2
case_images: WGS and subsequent Sanger sequencing identified a hemizygous pathogenic variant in BCAP31: c.247C>T (p.Gln83Ter) (Figure 2).
case_images: PMC11794251_02