case_images: PMC9411981_01
case_images: Genetic information of the patient. (A) Sanger sequencing showed a heterozygous maternally inherited variants (c.1031_1032delGA) and a heterozygous paternally inherited variant (c.754-12C>G) in TCN2 gene in patient. (B) Pedigree analysis of this family. (C) Reverse transcription and Sanger sequencing of exon 3-7 of TCN2 mRNA revealed an 11-base (TCTATCACCAG) insertion in the intron 5 and a 2-bp deletion (r.1031_1032delGA) in the exon 7.
case_images: fgene-13-951007-g001.jpg
case_images: PMC9411981_01_fgene-13-951007-g001.jpg
case_images: F1
case_images: A pair of compound-heterozygous variants, c.754-12C>G (intron 5) and c.1031_1032delGA (p.R344Tfs*20) (exon 7), in TCN2 gene (NM_000355.3) were identified and subsequently validated by Sanger sequencing (Figure 1B). Reverse transcription PCR and Sanger sequencing of exon 3-7 of TCN2 mRNA revealed a 11-bp insertion (TCTATCACCAG) in the 5th intron (Figure 1C), supporting the prediction that variant c.754-12C>G affects mRNA splicing.
case_images: PMC9411981_02