Germline SDHD mutation in familial phaeochromocytoma

The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and nec k paraganglioma, which is caused by a mutation in the gene encoding succina te dehydrogenase complex subunit D (SDHD), we investigated this gene in kin dreds with familial phaeochromocytoma. A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic p haeochromocytoma tumours. Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas eve n if a personal or family history of head and neck paraganglioma is absent.