A case report of spontaneous mutation (C33 > U) in the iron-responsive element of l-ferritin causing hyperferritinemia-cataract syndrome

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 1, 2010, Pages 22-27

  Cao, Wei ^a   McMahon, Mary ^a   Wang, Bo ^b   O'Connor, Rosemary ^a   Clarkson, Michael ^c  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b OHIO STATE UNIVERSITY   (United States)

^c University College Cork   (Ireland)

Author keywords

ELISA; Hereditary hyperferritinemia cataract syndrome; Iron regulatory proteins; Iron responsive element; RNA

Indexed keywords

FERRITIN; GENOMIC DNA; GLUCOCORTICOID; HYBRID PROTEIN; IRON REGULATORY PROTEIN 1; IRON REGULATORY PROTEIN 2; MESSENGER RNA; RNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HISTORY; FEMALE; FERRITIN BLOOD LEVEL; GENETIC ASSOCIATION; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HETEROZYGOTE; HUMAN; IRON RESPONSIVE ELEMENT; MOLECULAR CLONING; MOLECULAR INTERACTION; MONONUCLEAR CELL; MUTATIONAL ANALYSIS; NEGATIVE FEEDBACK; NEPHRITIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN RNA BINDING; PROTEIN SECONDARY STRUCTURE; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPONTANEOUS MUTATION; TRANSCRIPTION REGULATION;

CATARACT; CELL LINE; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; FEEDBACK, PHYSIOLOGICAL; FEMALE; FERRITINS; HETEROZYGOTE; HUMANS; IMMUNOGLOBULIN FC FRAGMENTS; IMMUNOGLOBULIN G; IRON; IRON REGULATORY PROTEIN 1; IRON REGULATORY PROTEIN 2; MIDDLE AGED; MODELS, MOLECULAR; PEDIGREE; POINT MUTATION; RECOMBINANT FUSION PROTEINS; RESPONSE ELEMENTS; RNA, MESSENGER; RNA-BINDING PROTEINS; SYNDROME;

EID: 72649106437     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.09.003     Document Type: Article

References (17)

1. Beaumont C., et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat. Genet. 11 (1995) 444-446
2. Cazzola M., et al. A novel deletion of the l-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. Br. J. Haematol. 116 (2002) 667-670
3. Burdon K.P., et al. A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. Hum. Mutat. 28 (2007) 742
4. Cazzola M., 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
5. Mumford A.D., Vulliamy T., Lindsay J., and Watson A. Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the l-ferritin iron-responsive element. Blood 91 (1998) 367-368
6. Volz K. The functional duality of iron regulatory protein 1. Curr. Opin. Struct. Biol. 18 (2008) 106-111
7. Samaniego F., Chin J., Iwai K., Rouault T.A., and Klausner R.D. Molecular characterization of a second iron-responsive element binding protein, iron regulatory protein 2. Structure, function, and post-translational regulation. J. Biol. Chem. 269 (1994) 30904-30910
8. Rouault T.A. The role of iron regulatory proteins in mammalian iron homeostasis and disease. Nat. Chem. Biol. 2 (2006) 406-414
9. Cazzola M., and Skoda R.C. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 95 (2000) 3280-3288
10. W.E. Walden, et al., Structure of dual function iron regulatory protein 1 complexed with ferritin IRE-RNA, Science 314 (5807) (2006) 1903-1908.
11. Hentze M.W., and Kuhn L.C. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc. Natl. Acad. Sci. U. S. A. 93 (1996) 8175-8182
12. Henderson B.R., Menotti E., Bonnard C., and Kuhn L.C. Optimal sequence and structure of iron-responsive elements. Selection of RNA stem-loops with high affinity for iron regulatory factor. J. Biol. Chem. 269 (1994) 17481-17489
13. Ismail A.R., Lachlan K.L., Mumford A.D., Temple I.K., and Hodgkins P.R. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. Eur. J. Ophthalmol. 16 (2006) 153-160
14. Allerson C.R., Cazzola M., and Rouault T.A. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. J. Biol. Chem. 274 (1999) 26439-26447
15. Balas A., Aviles M.J., Garcia-Sanchez F., and Vicario J.L. Description of a new mutation in the l-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. Blood 93 (1999) 4020-4021
16. Brooks D.G., et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Investig. Ophthalmol. Vis. Sci. 43 (2002) 1121-1126
17. Hetet G., Devaux I., Soufir N., Grandchamp B., and Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 102 (2003) 1904-1910