Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

• Main Authors: Fang Liu (Author), Barbara Calhoun (Author), Md. Suhail Alam (Author), Miaomiao Sun (Author), Xuechun Wang (Author), Chao Zhang (Author), Kasturi Haldar (Author), Xin Lu (Author)
• Format: Book
• Published: BMC, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expected to be phenotypically silent and their role in...