VHL (c.342T>C)
A 17 year old female presented with high blood pressure and bilateral adrenal pheochromocytoma. The patient's father had bilateral pheochromocytoma at age 13, and two of the patient's siblings also presented with bilateral pheochromocytoma. Analysis of germline variants (testing for multiple pheochromocytoma-implicated genes including RET/NF1/SDHB/SDHC/SDHD/TMEM127/MAX) revealed that a synonymous VHL mutation c.342T>C was present in the patient and her two affected siblings. Two unaffected family members did not have the mutation. Investigators hypothesize that since the mutation occurs 2 nucleotides into exon 2 it may have effects on VHL gene splicing. The patient's grandfather died of unknown renal disease at age 50. A germline mutation in the FH gene (c.556-4A>G) was also found in the proband, but not in any other family members.