case_images: PMC10948553_01
case_images: PMC10948553_02
case_images: The validation for c.2584C>T(p.Gln862Ter) by Sanger.
case_images: fimmu-15-1351076-g001.jpg
case_images: PMC10948553_02_fimmu-15-1351076-g001.jpg
case_images: f1
case_images: Sanger sequencing for proband and his parents. Sanger data from the parents showed that the patient's healthy father was heterozygous for the variant and his mother did not carry the variant (Figure 1).
case_images: The result of UPD. Homozygous variants on chromosome 4 were>90%. VAF, Variant Allel Frequency.
case_images: fimmu-15-1351076-g002.jpg
case_images: PMC10948553_02_fimmu-15-1351076-g002.jpg
case_images: f2
case_images: CNVkit analysis revealed no deletion regions in chromosome 4 (Figure 2). Collectively, these results indicate that the homozygous state of the c.2584C>T(p.Gln862Ter) in LRBA variant was due to a UPD4.