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Exon distribution of FH missense mutations

Overview of the exon distribution of FH missense, renal cell cancer–associated, and exclusively fumarase deficiency–related mutations. Mutations in red have been identified in cases of renal cell cancer (of either type II papillary or collecting duct morphology). Variants in yellow have been found exclusively in cases of fumarate hydratase deficiency. The accompanying table lists the numbers of missense variants per exon. (Source: Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008;9:20. Creative Commons Attribution License.)

Associated Disorders

  • Dystonia
  • Infantile spasms