PMC10106626_01
Brain magnetic resonance imaging of the patient. FLAIR sequences (A-E) reveal high signal changes in the periventricular white matter and mild brain atrophy. T2-weighted (F) sequence shows that the corpus callosum is normal.
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F1
Brain magnetic resonance imaging (MRI) showed a mild brain atrophy with periventricular white matter hyperintensities on fluid-attenuated inversion recovery (FLAIR) sequences (Figure 1).
Sequencing chromatogram of the patient. The lower case letters represent the nucleotide sequence of intron regions while capital letters represent the nucleotide sequence of exon 10.
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F2
We confirmed the location of gene deletion by Sanger sequencing, identifying homozygous deletions in the chr7:4785904-4786677 region involving exon 10 of the AP5Z1 gene, NM_014855.3, c.1133-345_1311 + 249del, p.G378Vfs*93X (Figure 2).
Pedigree of the family (A). The deletion involving exon 10 of the AP5Z1 gene was verified by fluorescence quantitative polymerase chain reaction (B). The squares indicate males, the circles indicate females. The pedigree chart shows that the patient's father (I-1) and mother (I-2) were cousins and deceased. The proband (II-5) is indicated by a black arrow. The patient's first brother (II-2) and second brother (II-4) were characterized by heterozygous mutations. The patient's sister refused to be tested.
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F3
The results showed that relative to two copies of healthy people, the patient had 0 copies, his brothers had a single copy (Figure 3).