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. 2021 Sep 17;11:18545. doi: 10.1038/s41598-021-98090-w

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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(A) PIGG Exon 12. Products ~ 506 bp were amplified from a Emm+ control sample and the family of Proband 1 (left) and Sanger sequencing (right) confirmed the homozygous 2-bp deletion in the Emm− brothers, the wild type sequence of the spouse, and heterozygosity for the daughter and son. (B) Amplification of PIGG Exons 1 through 13. Amplified products covering the 13 Exons are shown. Exons 1 & 2 and 7 & 8 were designed to be amplified as a single product. Exons 2–3 did not amplify in the sample from the Japanese Proband 2 and Exons 7–9 did not amplify in that from the European Proband 3. (C) Proband 2 deletion breakpoints. Amplification of Exons 1–4 in the sample from the Japanese Proband 2 indicate an approximate 6.0 kb deletion in PIGG compared to the control (left). Targeted NGS indicated a breakpoint spanning the region of Exons 2 and 3 compared to control (middle). Analysis of paired split reads aligned to both the left and right side of the deletion [g.5982_11944del, p.(Ala53Glyfs*2)] showed reads spanning the breakpoint in Intron 1 and Intron 3 (representative reads shown), and Sanger sequencing confirmed the breakpoint sequence (right). (D) Proband 3 deletion breakpoints. Amplification spanning Exons 6–10 in a sample from the European Proband 3 indicates an approximate 6.3 kb deletion in PIGG compared to the control (left). Targeted NGS indicated a breakpoint spanning the region of Exons 7 through 9 (middle). Analysis of the paired split reads aligned to both the left and right side of the deletion [g.24216_30561del, p.(Asp372Alafs*18)]] showed reads spanning the breakpoint in Intron 6 and Intron 9 (representative reads shown), and Sanger sequencing confirmed the breakpoint sequence (right).