Molecular basis for the recently described hereditary hyperferritinemia- cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") [see comments]

Abstract excerpt

Recently, we described a new genetic disorder (the "hereditary hyperferritinemia-cataract syndrome") clinically characterized by the combination of elevated serum ferritin and congenital bilateral nuclear cataract, both cotransmitted as an autosomal dominant trait. In affected subjects, hyperferritinemia (ranging from 950 to 2,259 micrograms/L) is typically not related to iron overload. Differently from subjects...

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