Hereditary hyperferritinaemia/cataract syndrome

Best Practice and Research: Clinical Haematology

Volumn 15, Issue 2, 2002, Pages 385-398

  Cazzola, Mario ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Cataract; Ferritin; Iron; Lens; mRNA translation

Indexed keywords

CIS ACTING ELEMENT; FERRITIN; MESSENGER RNA; RNA BINDING PROTEIN; TRANSFERRIN RECEPTOR; IRON; PROTEIN IRON REGULATORY PROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AMINO ACID SEQUENCE; CELL LEVEL; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; FEMALE; GENE DELETION; GENETIC DISORDER; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HUMAN; INHIBITION KINETICS; IRON BALANCE; IRON RESPONSIVE ELEMENT; MALE; MAMMAL CELL; NEWBORN; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN SYNTHESIS; REVIEW; RNA TRANSLATION; SCHOOL CHILD; TRANSLATION INITIATION; UNTRANSLATED REGION; BLOOD; CATARACT; FAMILY HEALTH; GENETICS; IRON METABOLISM DISORDER; METABOLISM; MUTATION; REGULATORY SEQUENCE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD CELL COUNT; CLINICAL FEATURE; FERRITIN BLOOD LEVEL; GENE SEQUENCE; GENE STRUCTURE; HEREDITARY HYPERFERRITINEMIA CARATACT SYNDROME; HYPERFERRITINEMIA; IRON BINDING CAPACITY; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON METABOLISM; LIVER BIOPSY; PATHOGENESIS; PHLEBOTOMY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SYNDROME; THERMODYNAMICS; TRANSFERRIN BLOOD LEVEL; TRANSLATION REGULATION;

CATARACT; FAMILY HEALTH; FERRITINS; HUMANS; IRON METABOLISM DISORDERS; MUTATION; REGULATORY SEQUENCES, NUCLEIC ACID;

EID: 0036430202     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1521-6926(02)90204-5     Document Type: Review

References (46)

1. Lewin B. Genes VI. Oxford: Oxford University Press, 1997.
2. Cazzola M & Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000; 95: 3280-3288.
3. Klausner RD, Rouault TA & Harford JB. Regulating the fate of mRNA: the control of cellular iron metabolism. Cell 1993; 72: 19-28.
4. Harrison PM & Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochimica et Biophysica Acta 1996; 1275: 161-203.
5. Worwood M. Ferritin. Blood Reviews 1990; 4: 259-269.
6. Santambrogio P, Cozzi A, Levi S & Arosio P. Human serum ferritin G-peptide is recognized by anti-L ferritin subunit antibodies and concanavalin-A. British Journal of Haematology 1987; 65: 235-237.
7. Lipschitz DA, Cook JD & Finch CA. A clinical evaluation of serum ferritin as an index of iron stores. New England Journal of Medicine 1974; 290: 1213-1216.
8. Theil EC. Iron regulatory elements (IREs): a family of mRNA non-coding sequences. Biochemical Journal 1994; 304: 1-11.
9. Butt J, Kim HY, Basilion JP et al. Differences in the RNA binding sites of iron regulatory proteins and potential target diversity. Proceedings of the National Academy of Sciences of the U.S.A. 1996; 93: 4345-4349.
10. Girelli D, Olivieri O, De Franceschi L et al. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. British Journal of Haematology 1995; 90: 931-934.
11. Bonneau D, Winter-Fuseau I, Loiseau M-N et al. Bilateral cataract and high serum ferritin: a new dominant genetic disorder? Journal of Medical Genetics 1995; 32: 778-779.
12. Beaumont C, Leneuve P, Devaux I et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nature Genetics 1995; 11: 444-446.
13. Girelli D, Corrocher R, Bisceglia L 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.
14. Aguilar-Martinez P, Biron C, Masmejean C et al. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. Blood 1996; 88: 1895 (Letter).
15. Cazzola 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 1997; 90: 814-821.
16. Girelli D, Corrocher R, Bisceglia L et al. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood 1997; 90: 2084-2088.
17. Merkt JD. Hereditares Hyperferritinämie-Katarakt-Syndrom. Deutsche Medizinische Wochenschrift 1997; 122: 504-506.
18. Arnold JD, Mumford AD, Lindsay JO et al. Hyperferritinaemia in the absence of iron overload. Gut 1997; 41: 408-410.
19. Martin ME, Fargion S, Brissot P et al. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91: 319-323.
20. Mumford AD, Vulliamy T, Lindsay J & Watson A. Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. Blood 1998; 91: 367-368.
21. Barton JC, Beutler E & Gelbart T. Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. Blood 1998; 92: 4480 (Letter).
22. Cicilano M, Zecchina G, Roetto A et al. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. Haematologica 1999; 84: 489-492.
23. Arosio C, Fossati L, Viganò M et al. Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. Haematologica 1999; 84: 560-561.
24. Balas A, Avile MJ, Garcia-Sanchez F et al. Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family. Blood 1999; 93: 4020-4121.
25. Kato GJ & Casella F. L-ferritin-Baltimore-I: a novel mutation in the iron responsive element (C32G) as a cause of the hyperferritinemia-cataract syndrome. Blood 1999; 94: 407a (abstract).
26. Camaschella C, Zecchina G, Lockitch G et al. A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins. British Journal of Haematolology 2000; 108: 480-482.
27. Perez de Nanclares G, Castano L, Martul P et al. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family. Journal of Pediatric Endocrinolology and Metabolism 2001; 14: 295-300.
28. Chang-Godinich A, Ades S, Schenkein D et al. Lens changes in hereditary hyperferritinemia-cataract syndrome. American Journal of Ophthalmology 2001; 132: 786-788.
29. Girelli D, Bozzini C, Zecchina G et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. British Journal of Hoematolology 2001; 115: 334-340.
30. Jaffrey SR, Haile DJ, Klausner RD & Harford JB. The interaction between the iron-responsive element binding protein and its cognate RNA is highly dependent upon both RNA sequence and structure. Nucleic Acids Research 1993; 21: 4627-4631.
31. Allerson CR, Cazzola M & Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. Journal of Biological Chemistry 1999; 274: 26439-26447.
32. Mumford AD, Cree IA, Arnold JD et al. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. British Journal of Ophthalmology 2000; 84: 697-700.
33. Cheng Q, Gonzalez P & Zigler JS. Jr. High level of ferritin light chain mRNA in lens. Biochemical and Biophysical Research Communications 2000; 270: 349-355.
34. Levi S, Girelli D, Perrone F et al. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. Blood 1998; 91: 4180-4187.
35. Brooks DG, Manova-Todorova K, Farmer J et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Investigative Ophthalmology & Visual Science 200 2; 43: 1121-1126.
36. Rosochova J, Kapetanios A, Pournaras C et al. Hereditary hyperferritinaemia cataract syndrome: does it exist in Switzerland? Schweizerische Medizinische Wochenschrift 2000; 130: 324-328.
37. Giansily M, Beaumont C, Desveaux C et al. Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome. British Journal of Haematology 2001; 112: 51-54.
38. Cremonesi L, Fumagalli A, Soriani N et al. Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G. Clinical Chemistry 2001; 47: 491-497.
39. Pietrangelo A, Montosi G, Totaro A et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. New England Journal of Medicine 1999; 341: 725-732.
40. Moirand R, Mortaji AM, Loreal O et al. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997; 349: 95-97.
41. Levi S, Yewdall SJ, Harrison PM, Santambrogio P, Cozzi A, Rovida E, Albertini A & Arosio P. Evidence that H- and L-chains have co-operative roles in the iron-uptake mechanism of human ferritin. Biochemical Journal 1992; 288: 591-596.
42. Ferreira C, Bucchini D, Martin ME et al. Early embryonic lethality of H ferritin gene deletion in mice. Journal of Biological Chemistry 2000; 275: 3021-3024.
43. Epsztejn S, Glickstein H, Picard V et al. H-ferritin subunit overexpression in erythroid cells reduces the oxidative stress response and induces multidrug resistance properties. Blood 1999; 94: 3593-3603.
44. Ferreira C, Santambrogio P, Martin ME et al. H ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload. Blood 2001; 98: 525-532.
45. Kato J, Fujikawa K, Kanda M et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. American Journal of Human Genetics 2001; 69: 191-197.
46. Cazzola M, Foglieni B, Bergamaschi G et al. A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia/cataract syndrome. British Journal of Haematology 2002; 116: 667-670.