Source:http://linkedlifedata.com/resource/pubmed/id/12730114
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
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| pubmed:dateCreated |
2003-8-21
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| pubmed:abstractText |
Unexplained hyperferritinemia is a common clinical finding, even in asymptomatic persons. When early onset bilateral cataracts are also present, the hereditary hyperferritinemia-cataract syndrome (HHCS), because of heterozygous point mutation in the L ferritin iron-responsive element (IRE) sequence, can be suspected. We sequenced the L ferritin exon 1 in 52 DNA samples from patients referred to us for molecular diagnosis of HHCS. We identified 24 samples with a point mutation/deletion in the IRE. For the 28 samples in which no IRE mutation was present, we also genotyped HFE mutations and sequenced both H ferritin and ferroportin genes. We found an increased frequency of His63Asp heterozygotes (12 of 28) but no H ferritin mutations. We identified 3 new ferroportin mutations, producing, respectively, Asp157Gly, Gln182His, and Gly323Val amino acid replacements, suggesting that these patients have dominant type 4 hemochromatosis. This study demonstrates that both L ferritin IRE and ferroportin mutations can account for isolated hyperferritinemia. The presence of cataract does not permit the unambiguous identification of patients with HHCS, although the existence of a family history of cataract was only encountered in these patients. This raises the intriguing possibility that lens ferritin accumulation might be a factor contributing to age-related cataract in the general population. Additional causes of isolated hyperferritinemia remain to be identified.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
AIM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Apoferritins,
http://linkedlifedata.com/resource/pubmed/chemical/Cation Transport Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Ferritins,
http://linkedlifedata.com/resource/pubmed/chemical/Iron,
http://linkedlifedata.com/resource/pubmed/chemical/Iron Regulatory Protein 1,
http://linkedlifedata.com/resource/pubmed/chemical/metal transporting protein 1
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| pubmed:status |
MEDLINE
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| pubmed:month |
Sep
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| pubmed:issn |
0006-4971
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:day |
1
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| pubmed:volume |
102
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1904-10
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:12730114-Adolescent,
pubmed-meshheading:12730114-Adult,
pubmed-meshheading:12730114-Amino Acid Sequence,
pubmed-meshheading:12730114-Apoferritins,
pubmed-meshheading:12730114-Cataract,
pubmed-meshheading:12730114-Cation Transport Proteins,
pubmed-meshheading:12730114-Child,
pubmed-meshheading:12730114-Child, Preschool,
pubmed-meshheading:12730114-Female,
pubmed-meshheading:12730114-Ferritins,
pubmed-meshheading:12730114-Gene Deletion,
pubmed-meshheading:12730114-Humans,
pubmed-meshheading:12730114-Iron,
pubmed-meshheading:12730114-Iron Metabolism Disorders,
pubmed-meshheading:12730114-Iron Regulatory Protein 1,
pubmed-meshheading:12730114-Male,
pubmed-meshheading:12730114-Middle Aged,
pubmed-meshheading:12730114-Molecular Sequence Data,
pubmed-meshheading:12730114-Point Mutation
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| pubmed:year |
2003
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| pubmed:articleTitle |
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
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| pubmed:affiliation |
INSERM U409, Faculte Xavier Bichat, 16 rue Henri Huchard, BP 416, 75870 Paris cedex 18, France.
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| pubmed:publicationType |
Journal Article
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