| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6392 |
Name | SDHD |
Synonymous | succinate dehydrogenase complex, subunit D, integral membrane protein;SDHD;succinate dehydrogenase complex, subunit D, integral membrane protein |
Definition | succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial|succinate-ubiquinone oxidoreductase cytochrome b small subunit|succinate-ubiquinone reductase membrane anchor subunit |
Position | 11q23 |
Gene type | protein-coding |
Title | Abstract |
| brain cancer | OBJECTIVE: Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of the study was to investigate which SDHD mutations are associated with malignant PGL. DESIGN: Case histories; collaborative study between referral centres in France, the USA, and the Netherlands. PATIENTS: Six unrelated patients with metastatic PGLs of either sympathetic or parasympathetic origin. MEASUREMENTS: Assessment of SDHD mutations underlying malignant PGL. RESULTS: Germline SDHD mutations underlying metastatic PGL were G148D, Y114X, L85X, W43X, D92Y, and IVS2+5G-->A. CONCLUSION: Our findings indicate that malignant SDHD-related PGL is associated with several mutations besides D92Y. |