ArticleJournal of medical genetics1997
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 54 citations in OpenAlex.
- Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening.Genes · 2022Review
- Maternal Iron Status in Pregnancy and Long-Term Health Outcomes in the Offspring.Journal of pediatric genetics · 2015Review
- Exploring the relationship between maternal iron status and offspring's blood pressure and adiposity: a Mendelian randomization study.Clinical epidemiology · 2012Article
- The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.Haematologica · 2010Article
- A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.BMC medical genetics · 2008Article
- Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.Metabolic brain disease · 2006Article
- A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.BMC medical genetics · 2006Article
- Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.Human genetics · 2004Article
- The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.Journal of medical genetics · 2004Article
- Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.Journal of medical genetics · 2001Article
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- Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.Journal of medical genetics · 1998Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
A candidate gene for hereditary haemochromatosis, HLA-H, has recently been presented. Two missense mutations in the HLA-H gene sequence are predicted to account for nearly 90% of all cases of the disease. The aim of this study was to correlate the presence of these missense mutations with the expressivity of the disease, as assessed by standard biochemical evaluation of serum iron parameters. Detection of the known mutations in haemochromatosis, Cys282Tyr and His63Asp, was undertaken in a large pedigree showing variable expression of the disease in successive generations. In three sibs with overt disease (one male, two female, aged 50 to 53 years), homozygosity for the predominant G to A transition (Cys282Tyr) in HLA-H was detected. However, homozygosity for this mutation was also detected in an asymptomatic male sib, aged 50, harbouring an identical genotype. The finding of an asymptomatic homozygous Cys282Tyr subject, haplo-identical to affected sibs, indicates that clinical expression of symptomatic disease is variable, even in middle aged Cys282Tyr homozygotes. This has profound implications for the future use of genetic screening for haemochromatosis.
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