VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.
In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were more frequently found in families with pheochromocytoma (PC). Deletions, nonsense, and frameshift mutations were more frequently found in families without PC. Large deletions and mutations predicted to cause truncated protein were associated with lower risk of PC. The mutation D121Mfs*38 (c.361delG) was referred to in the paper by c.574delG due to a difference in transcript sequence. This FS mutation found in a VHL family without PC (family ID 147).