H125Y – previously unreported – was associated with the presence of a right pneumogastric nerve PGL diagnosed at 49 years.
112 unrelated patients with pheochromocytoma or paraganglioma were screened for mutations in the VHL gene, as well as the SDHx related genes (SDHD, SDHB, SDHC). Mutation analysis was performed on patient blood samples: DNA was extracted using a DNA purification kit (Gentra), exon-intron boundaries of the VHL gene were amplified by PCR, mutation screening was performed by single strand conformation polymorphism (SSCP) and heteroduplex analysis, or by denaturing high performance liquid chromatography (dHPLC) analysis (WAVE 3500 HT system (Transgenomic, Inc., Omaha, NE, USA)) with confirmatory sequencing on CEQ2000 capillary sequencer (Beckman Coulter). Two patients without features suggestive of VHL syndrome were found to have germline VHL mutations. The second patient was associated with the presence of a right pneumogastric nerve paraganglioma diagnosed at 49 years, and was found to have a germline p.His125Tyr mutation. Only the amino acid change was given in the paper, the nucleotide change was not specified in the paper, inferred change is c.373G>A (H125Y).