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

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

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...

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Bibliographic Details
Main Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Medical Genetics
Subjects:
von Hippel-Lindau disease
Hemangioblastoma
Pheochromocytoma
Synonymous mutation
Silent mutation
Alternative splicing
Online Access:http://link.springer.com/article/10.1186/s12881-020-0976-7

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http://link.springer.com/article/10.1186/s12881-020-0976-7

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