The hereditary hyperferritinemia-cataract syndrome: A family study

European Journal of Pediatrics

Volumn 169, Issue 12, 2010, Pages 1553-1555

  Álvarez Coca González, Javier ^a   Moreno Carralero, María Isabel ^b   Martínez Pérez, Jorge ^a   Méndez, Manuel ^b   García Ros, Marta ^a   Morán Jiménez, María Josefa ^b  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Cataracts; Hyperferritinemia

Indexed keywords

FERRITIN; GENOMIC DNA;

ALLELE; ARTICLE; CASE REPORT; CATARACT; CHILD; DNA EXTRACTION; GENE; GENETIC ANALYSIS; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; L FERRITIN GENE; MALE; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME;

AGE FACTORS; APOFERRITINS; CATARACT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; DIAGNOSIS, DIFFERENTIAL; FAMILY; HUMANS; IRON; IRON METABOLISM DISORDERS; IRON-REGULATORY PROTEINS; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 78649327137     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1251-2     Document Type: Article

References (15)

1. P Aguilar-Martinez JF Schved P Brissot 2005 The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities Am J Gastroenterol 100 1185 1194 1:CAS:528:DC%2BD2MXkvVSmsLk%3D 10.1111/j.1572-0241.2005.40998.x 15842597 (Pubitemid 40769060)
2. A Balas MJ Aviles F Garcia-Sanchez, et al. 1999 Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family Blood 93 4020 4021 1:CAS:528:DyaK1MXjsVOntLk%3D 10383191
3. JC Barton SA Lafreniere C Leiendecker-Foster, et al. 2009 HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants Am J Hematol 84 710 714 1:CAS:528: DC%2BD1MXhsFWltr7N 10.1002/ajh.21524 19787796
4. F Bertola D Veneri S Bosio, et al. 2004 Hyperferritinaemia without iron overload: pathogenic and therapeutic implications Curr Drug Targets Immune Endocr Metabol Disord 4 93 105 1:CAS:528:DC%2BD2cXkslCmsL4%3D 10.2174/1568008043339893 15180450
5. W Cao M McMahon B Wang, et al. 2010 A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome Blood Cells Mol Dis 44 22 27 1:CAS:528:DC%2BD1MXhs1WjtrzE 10.1016/j.bcmd.2009.09.003 19800271
6. M Cazzola 2005 Role of ferritin and ferroportin genes in unexplained hyperferritinaemia Best Pract Res Clin Haematol 18 251 263 1:CAS:528: DC%2BD2MXhvVSmtb8%3D 10.1016/j.beha.2004.08.025 15737888 (Pubitemid 40298368)
7. M Cazzola G Bergamaschi L Tonon, et al. 1997 Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA Blood 90 814 821 1:CAS:528:DyaK2sXksF2jtL4%3D 9226182
8. JE Craig JB Clark JL McLeod, et al. 2003 Hereditary hyperferritinemia- cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations Arch Ophthalmol 121 1753 1761 10.1001/archopht.121.12. 1753 14662596 (Pubitemid 37517443)
9. M Ferrante AP Geubel J Fevery, et al. 2005 Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist Eur J Gastroenterol Hepatol 17 1247 1253 10.1097/00042737-200511000-00016 16215440 (Pubitemid 41527445)
10. JA Garcia Erce T Cortes L Cremonesi, et al. 2006 Hyperferritinemia- cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza") Med Clín 127 55 58 10.1157/13089990 (Pubitemid 44086028)
11. D Girelli C Bozzini G Zecchina, et al. 2001 Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia- cataract syndrome Br J Haematol 115 334 340 1:CAS:528:DC%2BD3MXptVyqs70%3D 10.1046/j.1365-2141.2001.03116.x 11703332 (Pubitemid 34203499)
12. L Gonzalez-Huerta V Ramirez-Sanchez M Rivera-Vega, et al. 2008 A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity Br J Haematol 143 596 598 1:CAS:528:DC%2BD1MXms1Wr 18710380
13. M Goralska BL Holley MC McGahan 2003 Identification of a mechanism by which lens epithelial cells limit accumulation of overexpressed ferritin H-chain J Biol Chem 278 42920 42926 1:CAS:528:DC%2BD3sXosFSkt78%3D 10.1074/jbc. M305827200 12920121 (Pubitemid 37345903)
14. C Kannengiesser AM Jouanolle G Hetet, et al. 2009 A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload Haematologica 94 335 339 1:CAS:528:DC%2BD1MXptlShsbY%3D 10.3324/haematol.2008.000125 19176363
15. AD Mumford IA Cree JD Arnold, et al. 2000 The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin Br J Ophthalmol 84 697 700 1:STN:280:DC%2BD3cvotVGqtA%3D%3D 10.1136/bjo.84.7.697 10873976 (Pubitemid 30438543)