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. 2019 Apr 5;7:55. doi: 10.3389/fped.2019.00055

Figure 1.

Figure 1

Gene Map of IL2RG gene showing novel variants for patients A and B. (A) IL2RG cDNA map with sites of variants (indicated by arrows) found in patients A and B with X-linked SCID. Patient A has a novel hemizygous missense variant: c.G175C in exon 2 (p.E59Q), which was designated a variant of unknown significance. Patient B has a novel variant in a non-coding region of IL2RG: a deletion within the 3′ UTR (AA *307 *308). (B) Chromatogram of Sanger sequencing of the 3′ UTR of the IL2RG gene for patient B, his mother and a healthy control (HC). Sequencing reveals patient B and his mother (a carrier) have a 2 base pair deletion within the polyA signal sequence: AATAAA is changed to AATA, as indicated by the blue rectangles.