case_images: PMC9932026_01
case_images: Hyperpigmentation lesions on lower limbs.
case_images: fgene-14-1107460-g001.jpg
case_images: PMC9932026_01_fgene-14-1107460-g001.jpg
case_images: F1
case_images: She has numerous pigmented lesions on her brown-colored skin (Figure 1).
case_images: MRI:massive cortical and subcortical atrophy frontal section.
case_images: fgene-14-1107460-g002.jpg
case_images: PMC9932026_01_fgene-14-1107460-g002.jpg
case_images: F2
case_images: Brain MRI demonstrated massive cortico-subcortical atrophy (Figures 2, 3 ).
case_images: MRI:massive cortical and subcortical atrophy Sagittal section.
case_images: fgene-14-1107460-g003.jpg
case_images: PMC9932026_01_fgene-14-1107460-g003.jpg
case_images: F3
case_images: Brain MRI demonstrated massive cortico-subcortical atrophy (Figures 2, 3 ).
case_images: Genetic examination and family study of the ERCC4 gene. (A) Proband's WES results and (B) results of family study performed by NGS-based amplicon deep sequencing. Integrative Genomics Viewer screenshots are presented.
case_images: fgene-14-1107460-g004.jpg
case_images: PMC9932026_01_fgene-14-1107460-g004.jpg
case_images: F4
case_images: Moreover, in the proband, a heterozygous non-sense variant in the SPTB gene (hg38 chr14:064786837-C>T; NM_001355436.2:c.3128G>A (p.Trp1043Ter), rs1594775390) was identified (Figure 4).