Journal
FRONTIERS IN NEUROSCIENCE
Volume 16, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fnins.2022.980000
Keywords
RNA-seq; de novo; missense variant; SETBP1; clinical diagnosis
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A novel de novo variation of the SETBP1 gene, located in the SKI domain, was identified in a patient with facial dysmorphism, intellectual disability, and delayed motor development. RNA sequencing revealed aberrant expression and splicing of genes involved in DNA/protein binding, expression regulation, and the cell cycle, providing insights into the pathogenesis of SETBP1.
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.
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