Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome

Acta Haematologica

Volumn 122, Issue 4, 2009, Pages 223-225

  Messa, E ^a   Pellegrino, R M ^a   Palmieri, A ^a   Carturan, S ^a   Cilloni, D ^a   Saglio, G ^a   Roetto, A ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN;

ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FEMALE; GENETIC DISORDER; HUMAN; HYPERFERRITINEMIA CATARACT SYNDROME; IRON RESPONSIVE ELEMENT; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

APOFERRITINS; BASE SEQUENCE; BINDING SITES; CATARACT; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FERRITINS; GENES, DOMINANT; HUMANS; IRON-REGULATORY PROTEINS; ITALY; MALE; NUCLEIC ACID CONFORMATION; PEDIGREE; POINT MUTATION; PROMOTER REGIONS, GENETIC; SYNDROME;

EID: 70350550032     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000253031     Document Type: Article

References (10)

1. Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C: Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis 2002; 29: 532-535.
2. Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M: A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90: 931-934.
3. Bonneau D, Winter-Fuseau I, Loiseau MN, Amati P, Berthier M, Oriot D, Beaumont C: Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet 1995; 32: 778-779.
4. Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P: 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.
5. Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, Bonneau D: Mutation in the iron responsive element in the L -ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995; 11: 444-446.
6. Rouault TA: The role of iron regulatory proteins in mammalian iron homeostasis and disease. Nat Chem Biol 2006; 2: 406-414.
7. Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C: Recurrent mutations in the iron regulatory element of L -ferritin in hereditary hyperferritinemia- cataract syndrome. Haematologica 1999; 84: 489-492.
8. Girelli D, Bozzini C, Zecchina G, Tinazzi E, Bosio S, Piperno A, Ramenghi U, Peters J, Levi S, Camaschella C, Corrocher R: Clinical, biochemical and molecular findings in a series of families with hereditary hyperferrinaemia- cataract syndrome. Br J Haematol 2001; 115: 334-340.
9. Papanikolaou G, Chandrinou H, Bouzas E, Contopoulos-Ioannidis D, Kalotychou V, Prentzas K, Lilakos K, Asproudis I, Palaiologou D, Premetis E, Papassotiriou I, Sakellaropoulos N: Hereditary hyperferrinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 1 G mutation of L -ferritin IRE. Blood Cells Mol Dis 2006; 36: 33-40.
10. Lachan KL, Temple IK, Mumford AD: Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. Eur J Hum Genet 2004; 12: 790-796.