Figure 1.
Panel A: A pedigree diagram showing the inheritance of WDR75 gene variants in a family. The diagram includes symbols for a male child, his parents, and the variants c.137C to T and c.1777G to T. Panel B: Chromatograms from Sanger sequencing of genomic DNA (gDNA) for the patient, mother, and father, showing the presence of WDR75 variants p.T46I and p.E593 stop. Panel C: A schematic representation of the WDR75 protein, highlighting the locations of the T46I and E593 stop variants and the WD40 domains. Panel D: An alignment of the WDR75 protein sequence with orthologs from yeast, mouse, zebrafish, and Xenopus, indicating the location of the human WDR75 p.T46I variant. Panel E: Chromatograms from Sanger sequencing of reverse transcription PCR (RT-PCR) products with and without cycloheximide (CHX) treatment, showing the c.137C to T and c.1777G to T variants in the patient.
Identification of compound-heterozygous variants in the WDR75 gene in an immunodeficient patient with syndromic features. (A–E) Pedigree indicating carrier status of WDR75 variants (A). Sanger sequencing from gDNA (B). Schematic presentation of the WDR75 protein indicating the location of WDR75 variants and WD40 repeats (C). Alignment of WDR75 with orthologs; arrowhead indicates the location of the human WDR75 p.T46I variant (D). Sanger sequencing of RT-PCR products with/without CHX treatment (100 µg/ml for 2 h) (E).