150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. Out of 30 patients with familial presentation, 13 were clinically diagnosed as VHL syndrome. A 28 year old Asian Indian male presented with unilateral pheochromocytoma. Using PCR and Sanger sequencing through peripheral blood, genetic testing confirmed a non-familial missense mutation at c.509T>C of the VHL gene. Family history is unknown.

Medical records of 31 Asian Indian genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 30 year old male (Patient 23) presented with unilateral pheochromocytoma (30Y). Genetic testing (PCR and Sanger sequencing) confirmed a missense mutation at c.509T>C of the VHL gene. He has a negative family history.