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. 2023 Jun 7;6(8):e202302025. doi: 10.26508/lsa.202302025

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© 2023 Ohori et al.

This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).

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Figure S1. — (A) Dot plot of a tandem duplication allele within intron 1 of ZNF292 in patient 1. The red line shows the alignment between the reference sequence and chromosome 6 with a 3.2-kb tandem duplication (chr6: 87,201,507–87,204,665) within intron 1 of ZNF292. The vertical stripes depict annotations in the reference genome with different colors: transposable elements (blue, reverse strand; pink, forward strand), tandem repeats (purple), protein-coding sequences (dark green), and exons (green). There is a 3.2-kb duplication at the breakpoints, and the blue line shows the extent of the duplication in the genome. The direction of the black arrow indicates the direction of the gene. (B) Breakpoint PCR using genomic DNA of the patient and her parents confirmed that the ZNF292 tandem duplication was inherited from the father of patient 1. The PCR product was 466 bp in size. Control, an unrelated healthy control; NC, negative control (no DNA); Red arrow, breakpoint PCR product containing tandem duplication in patient 1 and her father.

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