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. 2022 Jul 5;29(4):254–260. doi: 10.4078/jrd.21.0046

Fig. 3.

Fig. 3

Results for genetic analysis. (A) The patient's pedigree. Compound heterozygous variants of ADA2 gene were inherited from her father (c753G>A, p.Pro251Pro) and mother (c.1069G>A, p.Ala357Thr), which lead to abnormal splicing and missense mutation, respectively (B). The patient has compound heterozygote variant exon 4 (c753G>A , p.Pro251Pro) and exon 7 (c.1069G>A, p.Ala357Thr). Integrative genomics viewer (IGV) for analysis of whole genome sequencing showed that these variants were inherited from her parents. (C) IGV for analysis of RNA sequencing showed retained intron, which was produced by non-decayed adenine. (D) Sashimi plot on IGV for RNA sequencing analysis showed mRNA splicing on patient and healthy control. Retained intron was observed on intron 4 in this patient. (E) Allele from her father has adenine on 753th nucleotide of the patient on DNA analysis. However, in RNA sequencing analysis, about 33% of adenine was decayed by nonsense-mediated mRNA decay (NMD) to reduce errors in gene expression and remnant 22% of adenine processes mRNA on RNA sequencing called retained intron.