Details

Autor(en) / Beteiligte

• Astuti, Dewi
• Douglas, Fiona
• Lennard, Thomas WJ
• Aligianis, Irene A
• Woodward, Emma R
• Evans, D Gareth R
• Eng, Charis
• Latif, Farida
• Maher, Eamonn R

Titel

Germline SDHD mutation in familial phaeochromocytoma

Ist Teil von

• The Lancet (British edition), 2001-04, Vol.357 (9263), p.1181-1182

Ort / Verlag

London: Elsevier Ltd

Erscheinungsjahr

2001

Quelle

EBSCOhost Business Source Ultimate

Beschreibungen/Notizen

• 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 frame shift 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.