References
- Craig J, Clark J, McLeod J, et al. Hereditary hyperferritinemia-cataract syndrome. Arch Ophthalmol. 2004;121:1753–1761. DOI: https://doi.org/10.1001/archopht.121.12.1753.
- Luscieti S, Tolle G, Jaranda J, et al. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet J Rare Dis. 2013;8:30. DOI: https://doi.org/10.1186/1750-1172-8-30.
- Ismail A, Lachlan K, Mumford A, et al. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. Eur J Ophthalmol. 2006;16:153–160. DOI: https://doi.org/10.1177/112067210601600125.
- Mumford A, Vulliamy T, Lindsay J, et al. Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element [7]. Blood. 1998;91:367–368. DOI: https://doi.org/10.1182/blood.V91.1.367.367_367_368.
- 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. DOI: https://doi.org/10.1182/blood.V90.2.814.814_814_821.
- Chang-Godinich A, Ades S, Schenkein D, et al. Lens changes in hereditary hyperferritinemia-cataract syndrome. Am J Ophthalmol. 2001;132:786–788. DOI: https://doi.org/10.1016/S0002-9394(01)01106-0.
- Cosentino I, Zeri F, Swann P, et al. Hyperferritinemia-cataract syndrome: long-term ophthalmic observations in an Italian family. Ophthalmic Genet. 2016;37:1–5. DOI: https://doi.org/10.3109/13816810.2015.1059460.
- Lachlan K, Temple I, Mumford A. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. Eur J Human Genet. 2004;12:790–796. DOI: https://doi.org/10.1038/sj.ejhg.5201252.
- Angelika M, Capanna R, Chiarelli F. A girl with persistent hyperferritinaemia. Lancet. 2005;365:1744. DOI: https://doi.org/10.1016/S0140-6736(05)66549-X.
- Arnold J, Mumford A, Lindsay J, et al. Hyperferritinemia in the absence of iron overload. Gut. 1997;41:408–410. DOI: https://doi.org/10.1136/gut.41.3.408.
- 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.
- Balas A, Aviles M, García-Sánchez 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;93:4020–4021. DOI: https://doi.org/10.1182/blood.V93.11.4020.
- Barton J, Beutler E, Gelbart T. Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. Blood. 1999;92:4480. DOI: https://doi.org/10.1182/blood.V92.11.4480.423a57b_4480_4481.
- 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. Nat Genet. 1995;11:444–446. DOI: https://doi.org/10.1038/ng1295-444.
- Bosio S, Campanella A, Gramaglia E, et al. C29g in the iron-responsive element of L-ferritin: a new mutation associated with hyperferritinemia-cataract. Blood Cells Mol Dis. 2004;33:31–34. DOI: https://doi.org/10.1016/j.bcmd.2004.04.010.
- Bowes O, Baxter K, Elsey T, et al. Hereditary hyperferritinaemia cataract syndrome. Lancet. 2014;383:1520. DOI: https://doi.org/10.1016/S0140-6736(14)60484-0.
- Burdon KP, Sharma S, Chen CS, et al. A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. Hum Mutat. 2007;28:742. DOI: https://doi.org/10.1002/humu.9501.
- 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. Br J Haematol. 2000;108:480–482. DOI: https://doi.org/10.1046/j.1365-2141.2000.01920.x.
- Campagnoli MF, Pimazzoni R, Bosio S, et al. Onset of cataract in early infancy associated with a 32G–>C transition in the iron responsive element of L-ferritin. Eur J Pediatr. 2002;161:499–502. DOI: https://doi.org/10.1007/s00431-002-1019-4.
- Castiglioni E, Soriani N, Girelli D, et al. High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene. Clin Chem Lab Med. 2010;48:1415–1418. DOI: https://doi.org/10.1515/CCLM.2010.281.
- 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. Br J Haematol. 2002;116:667–670. DOI: https://doi.org/10.1046/j.0007-1048.2001.03310.x.
- 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.
- 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. Clin Chem. 2001;47:491–497. DOI: https://doi.org/10.1093/clinchem/47.3.491.
- Cremonesi L, Paroni R, Foglieni B, et al. Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations. Br J Haematol. 2003;121:173–179. DOI: https://doi.org/10.1046/j.1365-2141.2003.04253.x.
- del Castillo A, Ruano M. Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL)gene associated with the mutation H63D in the HFE gene. Med Clín. 2007;129:414–417.
- Ferrante M, Geubel A, Fevery J, et al. Hereditary hyperferritinaemia-cataract syndrome: A challenging diagnosis for the hepatogastroenterologist. Eur J Gastroenterol Hepatol. 2005;17:1247–1253. DOI: https://doi.org/10.1097/00042737-200511000-00016.
- Ferro E, Capra A, Zirilli G, et al. FTL c.-168G > C mutation in hereditary hyperferritinemia cataract syndrome: a new Italian family. Pediatr Develop Pathol. 2018;21. DOI: https://doi.org/10.1177/1093526618755200.
- Feys J, Nodarian M, Aygalenq P, et al. Hereditary hyperferritinemia syndrome and cataract. J Fr Ophtalmol. 2001;24:847–850.
- Fritsche-Polanz R, Wallner M, Cohen G, et al. Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C -> T-positive hereditary hyperferritinaemia-cataract syndrome. Eur J Clin Investig. 2004;34:701–708. DOI: https://doi.org/10.1111/j.1365-2362.2004.01408.x.
- Garderet L, Hermelin B, Gorin N, et al. Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family. Am J Med. 2004;117:138–139. DOI: https://doi.org/10.1016/j.amjmed.2004.02.033.
- Giansily M, Beaumont C, Desveaux C, et al. Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome. Br J Haematol. 2001;112:51–54. DOI: https://doi.org/10.1046/j.1365-2141.2001.02513.x.
- 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.
- Gonzalez-Huerta L, Ramirez-Sanchez V, Rivera-Vega M, et al. A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity. Br J Haematol. 2008;143:596–598. DOI: https://doi.org/10.1111/j.1365-2141.2008.07345.x.
- 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 (SLC11A3) mutations. Blood. 2003;102:1904–1910. DOI: https://doi.org/10.1182/blood-2003-02-0439.
- Ladero J, Balas A, García-Sánchez F, et al. Hereditary hyperferritinemia-cataract syndrome. Study of a new family in Spain. Rev Esp Enferm Dig. 2004;96:507-9–510-1. DOI: https://doi.org/10.4321/S1130-01082004000700008.
- Lenzhofer M, Schroedl F, Trost A, et al. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. Optom Vis Sci. 2015;92. DOI: https://doi.org/10.1097/OPX.0000000000000544.
- Maccora K, Souzeau E, Ruddle J, et al. Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis. Clin Exp Ophthalmol. 2018;46. DOI: https://doi.org/10.1111/ceo.13318.
- Martín D, Bravo A, Balas A. Hereditary hyperferritinemia and cataract syndrome: a de novo mutation. An Pediatr. 2008;68:408–410.
- Martin M, 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 hereditary hyperferritinaemia–cataract syndrome. Blood. 1998;91:319–323. DOI: https://doi.org/10.1182/blood.V91.1.319.
- Mattila R-M, Sainio A, Järveläinen M, et al. A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome. Acta Ophthalmol. 2017;96. DOI: https://doi.org/10.1111/aos.13492.
- Meneses F, Schnabel B, Silva I, et al. Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family. Clin Genet. 2011;79:189–192. DOI: https://doi.org/10.1111/j.1399-0004.2010.01517.x.
- Mumford AD, Cree I, Arnold J, et al. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. Br J Ophthalmol. 2000;84:697–700. DOI: https://doi.org/10.1136/bjo.84.7.697.
- Papanikolaou G, Chandrinou H, Bouzas E, et al. Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE. Blood Cells Mol Dis. 2006;36:33–40. DOI: https://doi.org/10.1016/j.bcmd.2005.10.003.
- Perez de Nanclares G, Castaño L, Martul P, et al. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family. J Pediatr Endocrinol Metab. 2001;14:295–300. DOI: https://doi.org/10.1515/JPEM.2001.14.3.295.
- Perruccio K, Arcioni F, Cerri C, et al. The hereditary hyperferritinemia-cataract syndrome in 2 Italian families. Case Rep Pediatr. 2013;2013:806034. DOI: https://doi.org/10.1155/2013/806034.
- Phillips J, Warby C, Kushner J. Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. Am J Med Genet Part A. 2005;134A:77–79. DOI: https://doi.org/10.1002/ajmg.a.30425.
- Rochow N, Bachmaier N, Tost F, et al. The case of a 1-year -old girl with hereditary hyperferritinemia cataract syndrome. Pediatr Hematol Oncol. 2009;26:136–141. DOI: https://doi.org/10.1080/08880010902754842.
- Rüfer A, Howell J, Lange A, et al. Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family. Eur J Haematol. 2011;87:274–278. DOI: https://doi.org/10.1111/j.1600-0609.2011.01607.x.
- Serra M, Longo F, Roetto A, et al. A child with hyperferritinemia: case report. Ital J Pediatr. 2011;37:20. DOI: https://doi.org/10.1186/1824-7288-37-20.
- Shekunov J, de Groen PC, Lindor NM, et al. Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. J Am Assoc Pediatr Ophthalmol Strabismus. 2011;15:356–361. DOI: https://doi.org/10.1016/j.jaapos.2011.03.020.
- Simsek S, Nanayakkara P, Keek J, et al. Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation. Neth J Med. 2003;61:291–295.
- Vanita V, Hejtmancik J, Hennies H, et al. Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis. 2006;12:93–99.
- Volkmann M, Richter R, Herrmann T, et al. Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families. Clin Chem Lab Med. 2019;57; DOI: https://doi.org/10.1515/cclm-2018-1354.
- Volkmann M, Schiff J, Hör M, et al. Pair of siblings of Italian ethnicity with hyperferritinemia and cataract. Internist (Berl). 2000;41:381–384.
- Xu M, Zhao X, Sun F, et al. A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China. Ann Hematol. 2020. DOI: https://doi.org/10.1007/s00277-020-04085-4.
- Yazar S, Franchina M, Craig J, et al. Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. Ophthalmic Genet. 2016;38:1–4. DOI: https://doi.org/10.3109/13816810.2016.1164195.
- Yin D, Kulhalli V, Walker A. Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. Hepatology. 2014;59. DOI: https://doi.org/10.1002/hep.26681.
- Brooks D, Manova-Todorova K, Farmer J, et al. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Investig Ophthalmol Vis Sci. 2002;43:1121–1126.
- Nos F, Hernandez G, Ferrer-Cortès X, et al. Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease—report of new cases. Int J Mol Sci. 2021;22:5451. DOI: https://doi.org/10.3390/ijms22115451.
- Van de Sompele S, Pécheux L, Couso J, et al. Functional characterization of a novel non-coding mutation “ghent + 49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. Sci Rep. 2017;7(1):18025. DOI: https://doi.org/10.1038/s41598-017-18326-6.
- Ferrari F, Foglieni B, Arosio P, et al. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. Hum Mutat. 2006;27:201–208. DOI: https://doi.org/10.1002/humu.20294.
- Faniello MC, Di Sanzo M, Quaresima B, et al. Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region. Clin Biochem. 2009;42:911–914.
- Durupt S, Durieu I, Salles B, et al. A potential etiology of elevated ferritin: hyperferritinemia-cataract syndrome. Rev Med Interne. 2001;22:83–85.
- García Erce JA, Cortés T, Cremonesi L, et al. Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. two new Spanish families and a new mutation (A37T: “zaragoza”). Med Clin. 2006;127:55–58.
- Garber I, Pudek M. A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome. Ann Clin Biochem. 2014;51:710–713.
- Cadenas B, Fita-Torró J, Bermúdez-Cortés M, et al. L-Ferritin: One gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia-report of New cases. Pharmaceuticals. 2019;12:17.
- Muñoz-Muñoz J, Cuadrado-Grande N, Moreno-Carralero MI, et al. Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene. Clin Genet. 2013;83:491–493.