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Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene
Author(s) -
MuñozMuñoz J,
CuadradoGrande N,
MorenoCarralero MI,
HoyosSanabria B,
ManubesGuarch A,
González AF,
TejadaPalacios P,
delCastilloRueda A,
MoránJiménez MJ
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01934.x
Subject(s) - medicine , university hospital , humanities , family medicine , art
To the Editor : Hereditary hyperferritinemia cataract syndrome (HHCS) (MIM 600886) is caused by mutations in the iron responsive element (IRE) on the 5′ untranslated region of the L-ferritin gene (FTL). The IRE binds to cytoplasmic iron regulatory proteins forming a complex that controls the FTL mRNA translation depending on the iron status; mutations in the IRE disturb this binding, leading to an increase in FTL production regardless of the serum iron concentration (1). The ferritin in HHCS patients is accumulated in the crystalline where formation of FTL crystal deposits causes cataracts (2, 3). Cataracts are usually bilateral with onset at an early age and slow progression. The morphology has a characteristic appearance with scattered small opacities in the anterior and posterior cortexes extending to the lens periphery and also observed in the nucleus (4–7). Thirty-two mutations have been described so far in the IRE of the FTL in the bulge and in the highly conserved hexanucleotide loop of the secondary structure of IRE (6). Most patients with HHCS display the mutations: c.-168G>C/T/A (32G>C/T/A), c.-161C>G/T/A (39C>G/T/A) and c.-160A>G (40A>G). In this work, we present three families and a case of spontaneous mutation with HHCS due to the allelic variants: c.-171C>G (29C>G), c.-168G>T (32G>T), c.-167C>T (33C>T) and c.-161delC (39delC) in the IRE region of the FTL, (Table 1).