[From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].
Hereditary paragangliomas are rare benign tumours arising from neuroectodermal tissue in the head and neck region. In families with paraganglioma, occasionally adrenal and extra-adrenal pheochromocytomas are found. Paragangliomas, adrenal and extra-adrenal pheochromocytomas may be caused by mutations in the SDHB, SDHC and SDHD genes encoding different subunits of mitochondrial respiratory chain complex II. Most paraganglioma cases in the Netherlands are caused by SDHD mutations. Presymptomatic DNA diagnosis is available for families with paragangliomas caused by SDHD mutations.
Taschner
P E M
PE
Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden, Centrum voor Humane en Klinische Genetica. p.taschner@lumc.nl
Bröcker-Vriends
A H J T
AH
van der Mey
A G L
AG
D004252:DNA Mutational Analysis; D004579:Electron Transport; D042963:Electron Transport Complex II; D005820:Genetic Testing; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics*; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics*
D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase