Hereditary hyperferritinemia-cataract syndrome: A novel mutation in the iron-responsive element of the L-ferritin gene in a French family [2]

American Journal of Medicine

Volumn 117, Issue 2, 2004, Pages 138-139

  Garderet, Laurent ^a   Hermelin, Brigitte ^a   Gorin, Norbert Claude ^a   Rosmorduc, Olivier ^a  

^a HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; DNA DETERMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HUMAN; HYPERFERRITINEMIA; IRON BLOOD LEVEL; IRON RESPONSIVE ELEMENT; LABORATORY TEST; LETTER; MEDICAL EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

EID: 3242713925     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjmed.2004.02.033     Document Type: Letter

References (7)

1. Beaumont C., Leneuve P., Devaux I., et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract. Nat Genet. 11:1995;444-446
2. Cazzzola M., Bergamaschi G., Tonon L., et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood. 90:1997;814-821
3. Girelli D, Corrocher R, Bisceglia, et al. 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»). Blood.1995; 86:4050-4053
4. Bettany A.J.E., Eisenstein R.S., Munro H.N. Mutagenesis of iron-regulatory element further defines a role for RNA secondary structure in the regulation of ferritin and transferrin receptor expression. J Biol Chem. 267:1992;16531-16537
5. Jaffrey S.R., Haile D.J., Klausner R.D., Harford J.B. The interaction between the iron-responsive element and its cognate RNA is highly dependent upon both RNA sequence and structure. Nucleic Acids Res. 21:1993;4627-4631
6. Cicilano R., Zecchina G., Roetto A., et al. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. Haematologica. 84:1999;489-492
7. Hetet G., Devaux I., Soufir N., et al. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc 11A3) mutations. Blood. 102:2003;1904-1910