Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of the FH gene cause fumarase deficiency and hereditary leiomyomatosis and hereditary renal cancer often concurs.
Fumarat hydratase is a key enzyme in Krebs cycle, which is respinsible for metabolism of tricarboxylic acids. The conversion of fumarate to malate is catalyzed.<br>Heterozygous mutations cause skin leiomyomatosis and these patients are of hight risk for renal-cell cancers.<br>Homozygous mutations are associated with early cerebral demage and growth failure.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Alam NA et al. (2005) Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 
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| 2. |
Pollard PJ et al. (2003) The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.
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| 3. |
Kiuru M et al. (2004) Hereditary leiomyomatosis and renal cell cancer (HLRCC).
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| 4. |
Alam NA et al. (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.
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| 5. |
None (2005) Multiple cutaneous and uterine leiomyomatosis (Reed's syndrome).
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| 6. |
NCBI article NCBI 2271
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| 7. |
OMIM.ORG article Omim 136850
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| 8. |
Orphanet article Orphanet ID 121823
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| 9. |
Wikipedia article Wikipedia EN (Fumarase)
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