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A Point Mutation in the Bulge of the Iron-Responsive Element of the L
Ferritin Gene in Two Families With the Hereditary
Hyperferritinemia-Cataract Syndrome
M.E. Martin,
S. Fargion,
P. Brissot,
B. Pellat, and
C. Beaumont
From the Génétique et Pathologie Moléculaires de
l'Hématopoièse, INSERM U409, Faculté Xavier Bichat,
Paris, France; Ospedale Maggiore di Milano, IRCCS, Milano, Italy;
Clinique des Maladies du Foie. C.H.R.U. Pontchaillou et INSERM U49,
Rennes; and Maladies de l'Appareil Digestif, La Varenne Saint Hilaire,
France.
The molecular basis for the recently described hereditary
hyperferritinemia-cataract syndrome is the presence of a mutation in
the iron-responsive element (IRE) of the L ferritin gene, located on
chromosome 19q13.3-13.4. Two mutations have been reported so far,
altering adjacent nucleotides in the IRE loop, in a region that has
been extensively studied in vitro and shown to mediate high affinity
interaction with the iron-responsive protein. In this report, we
describe two families with a new mutation in the bulge of the IRE stem,
and we show that this mutation alters the protein-binding affinity of
the IRE in vitro to the same extent as the loop mutation. In
addition, we present evidence that some variability in the age of onset
of cataract can be associated with this genetic syndrome, probably
because of additional genetic or environmental factors that modulate
the penetrance of the L ferritin defect in the lens. We confirm that
the patients do not have increased iron stores despite the persistence
of elevated serum ferritin levels and that, accordingly, they do not
tolerate well venesection therapy. Further studies will be necessary to elucidate the mechanism responsible for the onset of cataract.
Blood, Vol. 91 No. 1 (January 1), 1998:
pp. 319-323
© 1998 by The American Society of Hematology.
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