Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
نویسندگان
چکیده
This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataracthyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chro-
منابع مشابه
Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series
INTRODUCTION Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, w...
متن کاملThe lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin.
BACKGROUND/AIM Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS. METHODS L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens n...
متن کاملMolecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
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. Differe...
متن کاملHereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene.
Sir, Hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin levels and early-onset of cataracts.1 Molecular studies have shown the presence of mutations in the iron responsive element (IRE) sequence of the L-ferritin gene which compromise the iron-dependent regulation of mRNA translation leading to constitutive L-ferritin syn...
متن کاملHereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
Iron availability regulates ferritin synthesis posttranscriptionally by the interaction between iron-regulatory proteins (IRPs) and an iron responsive element (IRE), a stem-loop sequence located on the 5' untranslated region of ferritin mRNA. IRPs recognize IREs as a sequence/structure motif, blocking ferritin translation. Recently, we and others independently described families with a combinat...
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عنوان ژورنال:
- Journal of medical genetics
دوره 32 10 شماره
صفحات -
تاریخ انتشار 1995