PMC8413065_01
Sanger sequencing confirmed the homozygosity of the patient and heterozygosity of his parents for c.8698 G > T, p.E2900X in the VPS13B gene.
CRII2021-3143609.001.jpg
PMC8413065_01_CRII2021-3143609.001.jpg
fig1
We detected a homozygous nonsense variant (c.8698 G > T, p.E2900X) in exon 48 of the VPS13 B gene and confirmed the homozygosity of the patient and heterozygosity of his parents for the variant using Sanger sequencing (Figure 1).