Germline SDHD mutation in familial phaeochromocytoma

Dewi Astuti, F Douglas, TW Lennard, Irene Aligianis, Emma Woodward, DG Evans, C Eng, Farida Latif, Eamonn Maher

    Research output: Contribution to journalArticle

    223 Citations (Scopus)


    The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds 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 phaeochromocytoma tumours. Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas even if a personal or family history of head and neck paraganglioma is absent.
    Original languageEnglish
    Pages (from-to)1181-1182
    Number of pages2
    Publication statusPublished - 14 Apr 2001


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