Liu, F., Calhoun, B., Alam, S, Sun, M., Wang, X., Zhang, C, Haldar, K and Lu X. Case report: a synonymous VHL mutation (c.414A>G, p.Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing. Medical Genetics, Vo. 21, Article number:42 (2020). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045488/
Congratulations to a unique collaboration between the Kiergan family and CRND researchers that reported on an ultra-rare mutation seen in the genome that is not predicted to change the encoded amino acid in the VHL protein. But the mutation acts by causing an error in RNA (the intermediate between DNA and protein) showing that this mutation whose significance was previously unknown, is truly pathogenic.
Molecular research of the lead primary author Dr. Fang Liu (postdoctoral fellow) was integrated with clinical natural history studies by CRND Outreach Coordinator Barbara Calhoun, MSN, RN, PNP and also supported by others in Lu and Haldar labs (Dept. Biological Sciences). We are grateful to the Kiergan family for generously providing medical records, medical images and skin biopsies for the research. VHL syndrome is a rare disease that results in abnormal growth of tumors that can develop in the central nervous system and elsewhere.