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

• Published in: Frontiers in neuroscience 2022-09, Vol.16, p.980000-980000
• Main Authors: Liu, Li, Feng, Xiaoshu, Liu, Sihan, Zhou, Yanqiu, Dong, Xiaojing, Yao, Hong, Tan, Bo
• Format: Article
• Language: English
• Subjects: clinical diagnosis; de novo; missense variant; Neuroscience; RNA-seq; SETBP1
• ISSN: 1662-453X; 1662-4548; 1662-453X
• DOI: 10.3389/fnins.2022.980000

SET binding protein 1 (SETBP1) is essential for human development, and pathogenic germline variants in SETBP1 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 de novo variation of the SETBP1 (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 SETBP1 . 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 SETBP1 in vivo .