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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]
D Girelli, R Corrocher, L Bisceglia, O Olivieri, L De Franceschi, L Zelante and P Gasparini
Institute of Medical Pathology, University of Verona, Italy.
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 with
hereditary hemochromatosis, they have normal to low levels of serum iron
and percent of transferrin saturation and absence of iron overload in
parenchymal organs. When unnecessary phlebotomies are performed, they
rapidly develop iron-deficient anemia, with persistently elevated levels of
serum ferritin. By RNA-single-strand conformation polymorphism screening of
the L-subunit ferritin gene on chromosome 19, we were able to identify in
affected subjects a mutation in the 5' untranslated region. This mutation
involves the five nucleotides sequence [CAGUG] of the iron-responsive
element (IRE), which is critical for the posttranscriptional regulation of
ferritin synthesis by means of IRE-binding protein (IRE-BP). Thus, it is
very likely to provide the molecular basis for the iron-insensitive
upregulation of ferritin synthesis in affected subjects.
Volume 86,
Issue 11,
pp. 4050-4053,
12/01/1995
Copyright © 1995 by The American Society of Hematology
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