Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.
نویسندگان
چکیده
ogy of cytomegalovirus infections during pregnancy and infancy. Scand J Infect Dis 10:165, 1987 11. Ahlfors K, Ivarsson S-A, Johnsson T, Svensson I: Congenital and acquired cytomegalovirus infections. Acta Paediatr Scand 67:321, 1978 12. Stuart-Harris C: The epidemiology and clinical presentation of herpes virus infections. J Antimicrob Chemother 12:1, 1983 13. Lamy ME, Favart AM, Cornue C, Mendez M, Segas M, Bortonboy G: Study of Epstein-Barr virus (EBV) antibodies. Acta Clin Belg 37:281, 1982 14. Stollmann B, Fonatsch C, Havers W: Persistent Ebstein-Barr virus infection associated with monosomy 7 or chromosome 3 abnormality in childhood myeloproliferative disorders. Br J Haematol 60:183, 1985
منابع مشابه
Hereditary 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...
متن کاملClinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome.
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a novel genetic disorder characterized by elevated serum ferritin and early onset cataract formation. The excessive ferritin production in HHCS patients arises from aberrant regulation of L-ferritin translation caused by mutations within the iron-responsive element (IRE) of the L-ferritin transcript. IREs serve as binding sites for iron r...
متن کاملThe Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families
Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C3...
متن کاملHyperferritinemia 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 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 کاملA point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome.
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 affinit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Blood
دوره 91 1 شماره
صفحات -
تاریخ انتشار 1998