Searchable abstracts of presentations at key conferences in endocrinology

ea0015p186 | Endocrine tumours and neoplasia | SFEBES2008

A succinate dehydrogenase B (SDHB) founder mutation

Hughes Katherine , McDougall Lindsay , Bradshaw Nicola , Perry Colin , Lindsay Robert , McConachie Michelle , Davidson D Fraser , Murday Victoria , Connell John M C

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...