Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.

SET binding protein 1 (SETBP1) is essential for human development, and pathogenic germline variants in lead to a recognizable developmental syndrome and variable clinical features. In this study, we assessed a patient with facial dysmorphism, intellectual disability and delayed motor development. Whole genome sequencing identified a novel variation of the (c.2631C > A; p. S877R) gene, which is located in the SKI domain, as a likely pathogenic variant for the proband's phenotype. RNA sequencing was performed to investigate the potential molecular mechanism of the novel variation in . In total, 77 and 38 genes were identified with aberrant expression and splicing, respectively. Moreover, the biological functions of these genes were involved in DNA/protein binding, expression regulation, and the cell cycle, which may advance our understanding of the pathogenesis of .