Germline mutations in the RET, VHL, SDHB and SDHD genes are important causes of phaeochromocytoma susceptibility and phaeochromocytoma may also rarely (<1%) complicate neurofibromatosis type 1 (reviewed by Maher and Eng 2002, Eng et al, 2003). The gene discussed is SDHB; the disease is pheochromocytoma.