Abstract | BACKGROUND: DESCRIPTION: The FH mutation database is a part of the TCA cycle gene mutation database (formerly the succinate dehydrogenase gene mutation database) and is based on the Leiden Open (source) Variation Database (LOVD) system. The variants included in the database were derived from the published literature and annotated to conform to current mutation nomenclature. The FH database applies HGVS nomenclature guidelines, and will assist researchers in applying these guidelines when directly submitting new sequence variants online. Since the first molecular characterization of an FH mutation by Bourgeron et al in 1994, a series of reports of both FH deficiency patients and patients with MCUL/HLRRC have described 107 variants, of which 93 are thought to be pathogenic. The most common type of mutation is missense (57%), followed by frameshifts & nonsense (27%), and diverse deletions, insertions and duplications. Here we introduce an online database detailing all reported FH sequence variants. CONCLUSION: The FH mutation database strives to systematically unify all current genetic knowledge of FH variants. We believe that this knowledge will assist clinical geneticists and treating physicians when advising patients and their families, will provide a rapid and convenient resource for research scientists, and may eventually assist in gaining novel insights into FH and its related clinical syndromes.
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Authors | Jean-Pierre Bayley, Virpi Launonen, Ian P M Tomlinson |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 9
Pg. 20
(Mar 25 2008)
ISSN: 1471-2350 [Electronic] England |
PMID | 18366737
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Carcinoma, Renal Cell
(enzymology, genetics)
- Databases, Nucleic Acid
- Female
- Fumarate Hydratase
(deficiency, genetics)
- Genes, Tumor Suppressor
- Germ-Line Mutation
- Humans
- Kidney Neoplasms
(enzymology, genetics)
- Leiomyomatosis
(enzymology, genetics)
- Metabolism, Inborn Errors
(genetics)
- Skin Neoplasms
(enzymology, genetics)
- Uterine Neoplasms
(enzymology, genetics)
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