case_images: PMC11221946_01
case_images: Sanger sequencing of the proband showing the two distinct identified variants. (a) Sanger sequencing of the sample, revealing the presence of the hemizygosis mutation c.1151C > T at the specific point indicated by the red rectangle. (b) The graph represents the Sanger sequencing of the heterozygous c.923G > A indicated by the red and blue rectangles. The identified variants are visualized by Integrative Genomics Viewer (IGV) software. Ref Seq (reference sequencing) used for variants annotation are NM_032656.4 for DHX37 and NM_005491.4 for MAMLD1 genes.
case_images: CRIPE2024-4896940.001.jpg
case_images: PMC11221946_01_CRIPE2024-4896940.001.jpg
case_images: fig1
case_images: The patient had a known variant in the DHX37 gene in combination with another known variant in the MAMLD1 gene (Figure 1).