case_images: PMC11408229_01
case_images: Sanger sequencing chromatograms of mutation c.49dupG (p.E17Gfs*10) in TLK2 gene, and the position is indicated by an arrow. The proband and his father were heterozygous of the mutated gene, while his mother and grandparents were normal.
case_images: fgene-15-1419027-g001.jpg
case_images: PMC11408229_01_fgene-15-1419027-g001.jpg
case_images: F1
case_images: E17Gfs*10) was identified in the TLK2 gene of the proband, which may cause loss of gene function, and his father was also found to carry this de novo variant (Figure 1). However, the grandparents and mother of this proband did not have the variant (Figure 1).
case_images: (A) Pedigrees of the two individuals issued from the Chinese families. The black arrow indicates the proband. The affected individuals with the homozygous TLK2 variant were indicated with a half-black square. Empty circles or squares indicated other non-carriers. (B) Exon models of TLK2 gene showing the location of the variant (c.49dupG, p. E17Gfs*10) in Exon 2. (C) Multi-species conservation alignment of TLK2 homologs. The red arrow indicates the site of the variant.
case_images: fgene-15-1419027-g002.jpg
case_images: PMC11408229_01_fgene-15-1419027-g002.jpg
case_images: F2
case_images: This mutation had not been reported in the literature and ClinVar database. (Figure 2).